AQP1 (aquaporin 1 (Colton blood group)) - Rat Genome Database

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Gene: AQP1 (aquaporin 1 (Colton blood group)) Homo sapiens
Analyze
Symbol: AQP1
Name: aquaporin 1 (Colton blood group)
RGD ID: 70369
HGNC Page HGNC:633
Description: Enables several functions, including carbon dioxide transmembrane transporter activity; channel activity; and nitric oxide transmembrane transporter activity. Involved in several processes, including body fluid secretion; cellular response to osmotic stress; and water transport. Located in several cellular components, including basolateral plasma membrane; brush border membrane; and extracellular exosome. Part of ankyrin-1 complex. Biomarker of brain edema; central pontine myelinolysis; and intracranial hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AQP-1; AQP-CHIP; aquaporin 1; aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group); aquaporin 1, Colton blood group antigen; aquaporin 1aquaporin 1 (Colton blood group); aquaporin-1; aquaporin-CHIP; channel-like integral membrane protein of 28 kDa; channel-like integral membrane protein, 28-kDa; CHIP28; CO; Colton blood group; Colton blood group antigen; MGC26324; urine water channel; water channel protein for red blood cells and kidney proximal tubule
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,911,853 - 30,925,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,911,853 - 30,925,517 (+)EnsemblGRCh38hg38GRCh38
GRCh37730,951,468 - 30,965,131 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,917,993 - 30,931,656 (+)NCBINCBI36Build 36hg18NCBI36
Build 34730,724,707 - 30,738,371NCBI
Celera730,940,621 - 30,954,337 (+)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef730,833,637 - 30,847,351 (+)NCBIHuRef
CHM1_1730,951,350 - 30,965,064 (+)NCBICHM1_1
T2T-CHM13v2.0731,049,501 - 31,063,163 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2731,000,921 - 31,014,637 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-naringenin  (EXP)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-methoxy-17beta-estradiol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acetazolamide  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
adenine  (ISO)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
allopurinol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
Azoxymethane  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
Calphostin C  (EXP)
cannabidiol  (EXP)
capsaicin  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
chlorogenic acid  (EXP)
chlorpyrifos  (ISO)
ciglitazone  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cytarabine  (EXP)
D-glucose  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diiodine  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP,ISO)
diprotium oxide  (EXP,ISO)
diquat  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
etoposide  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folpet  (ISO)
gallic acid  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
GW 4064  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
indometacin  (ISO)
iodide salt  (ISO)
kojic acid  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP,ISO)
lycopene  (ISO)
mercaptoethanol  (EXP)
mercury atom  (EXP,ISO)
mercury dichloride  (EXP,ISO)
mercury(0)  (EXP,ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nitrofen  (ISO)
nitrogen dioxide  (EXP)
ochratoxin A  (ISO)
Osajin  (EXP)
oxaliplatin  (ISO)
oxybenzone  (ISO)
ozone  (EXP,ISO)
p-chloromercuribenzenesulfonic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
peptidoglycan  (EXP)
perchlorate  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
Pomiferin  (EXP)
potassium chloride  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
prostaglandin E2  (ISO)
puerarin  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
roflumilast  (EXP)
Rosavin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tebuconazole  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraethylammonium  (EXP)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
thiourea  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
triclosan  (EXP)
Triptolide  (ISO)
tungsten  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
water  (EXP,ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ammonium transmembrane transport  (IDA)
camera-type eye morphogenesis  (IEA,ISO)
carbon dioxide transmembrane transport  (IBA,IDA)
carbon dioxide transport  (IDA)
cell migration  (IEA,ISO)
cell volume homeostasis  (IMP)
cellular homeostasis  (IDA)
cellular hyperosmotic response  (IMP)
cellular response to cAMP  (IDA,IEP)
cellular response to copper ion  (IDA)
cellular response to dexamethasone stimulus  (IDA)
cellular response to hydrogen peroxide  (IDA)
cellular response to hypoxia  (IDA)
cellular response to mechanical stimulus  (IDA)
cellular response to mercury ion  (IDA)
cellular response to nitric oxide  (IDA)
cellular response to retinoic acid  (IDA)
cellular response to salt stress  (IDA)
cellular response to UV  (IDA)
cerebrospinal fluid secretion  (IEP)
cGMP-mediated signaling  (IDA)
corticotropin secretion  (IEA,ISO)
defense response to Gram-negative bacterium  (IEA,IMP)
establishment of localization in cell  (IEA,ISO)
establishment or maintenance of actin cytoskeleton polarity  (IMP)
fibroblast migration  (IEA,ISO)
glomerular filtration  (IEA,ISO)
glycerol transmembrane transport  (IDA)
hydrogen peroxide transmembrane transport  (IEA)
hyperosmotic response  (IBA,ISO)
intracellular water homeostasis  (IDA)
lateral ventricle development  (IEA,IEP)
lipid digestion  (IEA,ISO)
metanephric descending thin limb development  (IEA)
metanephric glomerulus vasculature development  (IEA)
metanephric proximal convoluted tubule segment 2 development  (IEA)
metanephric proximal straight tubule development  (IEA)
metanephric proximal tubule development  (ISO)
monoatomic cation transmembrane transport  (IEA)
multicellular organismal-level water homeostasis  (IEA,IEP,ISO)
negative regulation of apoptotic process  (IDA)
nitric oxide transport  (IDA)
odontogenesis  (IEP)
pancreatic juice secretion  (IEP)
positive regulation of angiogenesis  (IMP)
positive regulation of epithelial cell migration  (ISO)
positive regulation of fibroblast migration  (IEA,ISO)
positive regulation of fibroblast proliferation  (IDA)
positive regulation of lamellipodium assembly  (ISO)
positive regulation of saliva secretion  (IMP)
potassium ion transmembrane transport  (IEA)
potassium ion transport  (IEA,ISS)
renal water absorption  (IEA,ISO)
renal water homeostasis  (TAS)
renal water transport  (IBA,IDA)
response to estrogen  (ISO)
response to hormone  (ISO)
secretion by cell  (IEA,ISO)
secretory granule organization  (IEA,ISO)
sensory perception of pain  (IEA,ISO)
transepithelial water transport  (IDA)
transmembrane transport  (IEA)
water transport  (IDA,IEA,IMP,ISO)
wound healing  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. Banales JM, etal., Am J Pathol. 2008 Dec;173(6):1637-46. Epub 2008 Nov 6.
2. Human neuronal changes in brain edema and increased intracranial pressure. Faragó N, etal., Acta Neuropathol Commun. 2016 Aug 4;4(1):78. doi: 10.1186/s40478-016-0356-x.
3. Altered expression of aquaporins 1 and 4 coincides with neurodegenerative events in retinas of spontaneously diabetic Torii rats. Fukuda M, etal., Exp Eye Res. 2010 Jan;90(1):17-25. Epub 2009 Sep 11.
4. Differential expressions of aquaporin subtypes in astroglia in the hippocampus of chronic epileptic rats. Kim JE, etal., Neuroscience. 2009 Oct 20;163(3):781-9. Epub 2009 Jul 18.
5. Aquaporins in the kidney. Kwon TH, etal., Handb Exp Pharmacol. 2009;(190):95-132. doi: 10.1007/978-3-540-79885-9_5.
6. Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels. Ma T, etal., J Biol Chem 1998 Feb 20;273(8):4296-9.
7. Aquaporin expression in blood-retinal barrier cells during experimental autoimmune uveitis. Motulsky E, etal., Mol Vis. 2010 Apr 3;16:602-10.
8. Aquaporin 1 - a novel player in spinal cord injury. Nesic O, etal., J Neurochem. 2008 May;105(3):628-40. Epub 2008 Jan 28.
9. Expression of aquaporin 1 and 4 in a congenital hydrocephalus rat model. Paul L, etal., Neurosurgery. 2011 Feb;68(2):462-73.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. Evidence of aquaporin involvement in human central pontine myelinolysis. Popescu BF, etal., Acta Neuropathol Commun. 2013 Jul 25;1(1):40. doi: 10.1186/2051-5960-1-40.
13. High-salt loading exacerbates increased retinal content of aquaporins AQP1 and AQP4 in rats with diabetic retinopathy. Qin Y, etal., Exp Eye Res. 2009 Nov;89(5):741-7. Epub 2009 Jul 9.
14. Effects of intravitreal triamcinolone acetonide on retinal gene expression in a rat model of central retinal vein occlusion. Rehak M, etal., Graefes Arch Clin Exp Ophthalmol. 2011 Aug;249(8):1175-83. Epub 2011 Apr 13.
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. [Changes of VEGF and AQPs gene and protein expression in rat brain tissue during hypoxic encephaledema]. Tian YM, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2011 Feb;27(1):7-11.
18. Expression of aquaporins 1 and 4 in the brain of spontaneously hypertensive rats. Tomassoni D, etal., Brain Res. 2010 Apr 14;1325:155-63. Epub 2010 Feb 12.
19. 2-Methoxyestradiol inhibits the up-regulation of AQP4 and AQP1 expression after spinal cord injury. Wang YF, etal., Brain Res. 2011 Jan 25;1370:220-6. Epub 2010 Nov 16.
Additional References at PubMed
PMID:1373524   PMID:1510932   PMID:1722319   PMID:2007592   PMID:3049610   PMID:3166547   PMID:7491270   PMID:7504987   PMID:7507481   PMID:7514605   PMID:7517253   PMID:7517546  
PMID:7518771   PMID:7521540   PMID:7521882   PMID:7521883   PMID:7530250   PMID:7532004   PMID:7540589   PMID:7544358   PMID:7677994   PMID:7693713   PMID:8340403   PMID:8408657  
PMID:8576117   PMID:8584435   PMID:8703970   PMID:9013443   PMID:9096382   PMID:9177353   PMID:9321919   PMID:9369468   PMID:9405233   PMID:9733774   PMID:9806845   PMID:9829975  
PMID:10318966   PMID:10510269   PMID:10559675   PMID:10564231   PMID:10839360   PMID:10872456   PMID:10873606   PMID:11001937   PMID:11034202   PMID:11076974   PMID:11097616   PMID:11171962  
PMID:11408278   PMID:11463012   PMID:11532455   PMID:11573934   PMID:11743202   PMID:11773634   PMID:11780053   PMID:11884383   PMID:11909995   PMID:11914159   PMID:11922632   PMID:12002613  
PMID:12027013   PMID:12051745   PMID:12084581   PMID:12137754   PMID:12172703   PMID:12237771   PMID:12399631   PMID:12477932   PMID:12498798   PMID:12522663   PMID:12690205   PMID:12745312  
PMID:12766090   PMID:12781664   PMID:12801959   PMID:12853948   PMID:14514735   PMID:14521551   PMID:14561230   PMID:14592814   PMID:14630322   PMID:14675051   PMID:14701836   PMID:14753493  
PMID:14753494   PMID:15024704   PMID:15135660   PMID:15326289   PMID:15489334   PMID:15502805   PMID:15563082   PMID:15667881   PMID:15727941   PMID:15783300   PMID:15809704   PMID:15815633  
PMID:15847654   PMID:15948717   PMID:16133142   PMID:16189514   PMID:16300893   PMID:16344560   PMID:16481371   PMID:16515633   PMID:16534779   PMID:16565507   PMID:16574458   PMID:16596446  
PMID:16682607   PMID:16698771   PMID:16711029   PMID:16814974   PMID:16871401   PMID:17012249   PMID:17077939   PMID:17178220   PMID:17219999   PMID:17273788   PMID:17408468   PMID:17409744  
PMID:17511167   PMID:17545093   PMID:17549682   PMID:17632520   PMID:17636236   PMID:17645239   PMID:17854859   PMID:17890385   PMID:17894331   PMID:17898873   PMID:18052958   PMID:18067501  
PMID:18080132   PMID:18202181   PMID:18247144   PMID:18275976   PMID:18280225   PMID:18282122   PMID:18313673   PMID:18349152   PMID:18392839   PMID:18470935   PMID:18501347   PMID:18509662  
PMID:18510579   PMID:18511455   PMID:18538351   PMID:18544259   PMID:18563339   PMID:18575775   PMID:18617525   PMID:18665841   PMID:18762715   PMID:18841368   PMID:19056867   PMID:19060904  
PMID:19080511   PMID:19253825   PMID:19268465   PMID:19273840   PMID:19306058   PMID:19424603   PMID:19447967   PMID:19472194   PMID:19522191   PMID:19545896   PMID:19584911   PMID:19619954  
PMID:19670620   PMID:19726340   PMID:19772916   PMID:19787701   PMID:19913121   PMID:20063900   PMID:20101282   PMID:20137115   PMID:20149606   PMID:20360993   PMID:20409716   PMID:20424473  
PMID:20431033   PMID:20461409   PMID:20578142   PMID:20628061   PMID:20628086   PMID:20739606   PMID:20795314   PMID:20806077   PMID:20828513   PMID:20965731   PMID:20969805   PMID:21063116  
PMID:21107133   PMID:21118806   PMID:21215257   PMID:21237499   PMID:21244858   PMID:21251984   PMID:21252246   PMID:21271497   PMID:21360438   PMID:21373963   PMID:21395179   PMID:21516116  
PMID:21538271   PMID:21551254   PMID:21612401   PMID:21760919   PMID:21784068   PMID:21793635   PMID:21839760   PMID:21873635   PMID:21896312   PMID:22006723   PMID:22093331   PMID:22269467  
PMID:22310126   PMID:22334691   PMID:22348807   PMID:22372348   PMID:22396660   PMID:22472942   PMID:22901156   PMID:22901921   PMID:22964306   PMID:23029347   PMID:23029502   PMID:23219802  
PMID:23220481   PMID:23268390   PMID:23276695   PMID:23313295   PMID:23317544   PMID:23332061   PMID:23361277   PMID:23376485   PMID:23393355   PMID:23450058   PMID:23533145   PMID:23549977  
PMID:23928039   PMID:23949237   PMID:23974882   PMID:24014128   PMID:24028651   PMID:24086369   PMID:24169407   PMID:24333057   PMID:24493792   PMID:24623722   PMID:24688444   PMID:24777974  
PMID:24803718   PMID:24918928   PMID:25252847   PMID:25299207   PMID:25416956   PMID:25495276   PMID:25582271   PMID:25609088   PMID:25721378   PMID:25910212   PMID:25987071   PMID:26074259  
PMID:26115524   PMID:26151179   PMID:26176849   PMID:26178576   PMID:26181025   PMID:26261083   PMID:26549133   PMID:26707370   PMID:26717516   PMID:26773069   PMID:26786101   PMID:26812884  
PMID:26823734   PMID:26838488   PMID:26848795   PMID:26919570   PMID:26923194   PMID:26972451   PMID:27143047   PMID:27157540   PMID:27295912   PMID:27465156   PMID:27497833   PMID:27817002  
PMID:27835672   PMID:28072927   PMID:28129470   PMID:28409279   PMID:28596233   PMID:28708257   PMID:28766180   PMID:28827734   PMID:29087027   PMID:29104239   PMID:29257313   PMID:29258764  
PMID:29495596   PMID:29538612   PMID:29554889   PMID:29650961   PMID:29769447   PMID:29916035   PMID:30021355   PMID:30270117   PMID:30378011   PMID:30467901   PMID:30531392   PMID:30739527  
PMID:30840592   PMID:31039249   PMID:31254364   PMID:31261369   PMID:31305898   PMID:31311397   PMID:31377196   PMID:31521632   PMID:31676353   PMID:31752329   PMID:31903985   PMID:31912092  
PMID:32052937   PMID:32167542   PMID:32242084   PMID:32253832   PMID:32296183   PMID:32304816   PMID:32687728   PMID:32814878   PMID:32891005   PMID:32900356   PMID:32936667   PMID:33028705  
PMID:33125833   PMID:33462668   PMID:33542263   PMID:33558238   PMID:33961781   PMID:34391691   PMID:34415479   PMID:34435473   PMID:34597351   PMID:34627746   PMID:34650163   PMID:34670044  
PMID:34686053   PMID:34737423   PMID:34800429   PMID:34830416   PMID:34929457   PMID:35024730   PMID:35151337   PMID:35166938   PMID:35458572   PMID:35835865   PMID:36142499   PMID:36642562  
PMID:36803413   PMID:36830582   PMID:36949045   PMID:37904849   PMID:37975746   PMID:38015518   PMID:38334883   PMID:38372093   PMID:38375595   PMID:38653736   PMID:39125626   PMID:39127771  
PMID:39180980   PMID:39279492  


Genomics

Comparative Map Data
AQP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,911,853 - 30,925,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,911,853 - 30,925,517 (+)EnsemblGRCh38hg38GRCh38
GRCh37730,951,468 - 30,965,131 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,917,993 - 30,931,656 (+)NCBINCBI36Build 36hg18NCBI36
Build 34730,724,707 - 30,738,371NCBI
Celera730,940,621 - 30,954,337 (+)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef730,833,637 - 30,847,351 (+)NCBIHuRef
CHM1_1730,951,350 - 30,965,064 (+)NCBICHM1_1
T2T-CHM13v2.0731,049,501 - 31,063,163 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2731,000,921 - 31,014,637 (+)NCBI
Aqp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39655,313,284 - 55,325,540 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl655,313,417 - 55,325,540 (+)EnsemblGRCm39 Ensembl
GRCm38655,336,299 - 55,348,555 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl655,336,432 - 55,348,555 (+)EnsemblGRCm38mm10GRCm38
MGSCv37655,286,293 - 55,298,549 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36655,266,010 - 55,278,133 (+)NCBIMGSCv36mm8
Celera655,870,108 - 55,882,362 (+)NCBICelera
Cytogenetic Map6B3NCBI
cM Map627.38NCBI
Aqp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8485,812,784 - 85,824,964 (+)NCBIGRCr8
mRatBN7.2484,482,512 - 84,494,690 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl484,482,512 - 84,494,690 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx489,700,946 - 89,713,083 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0485,476,356 - 85,488,493 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0483,882,115 - 83,894,263 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0485,551,503 - 85,563,683 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl485,551,502 - 85,569,360 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04150,203,461 - 150,215,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4484,098,346 - 84,110,524 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1484,384,810 - 84,396,991 (+)NCBI
Celera479,349,727 - 79,361,905 (+)NCBICelera
Cytogenetic Map4q24NCBI
Aqp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541032,066,196 - 32,078,717 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541032,066,196 - 32,078,661 (+)NCBIChiLan1.0ChiLan1.0
AQP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2635,722,747 - 35,736,555 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1784,047,527 - 84,061,283 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0731,524,933 - 31,538,602 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1731,644,331 - 31,658,141 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl731,644,331 - 31,658,141 (+)Ensemblpanpan1.1panPan2
AQP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11443,592,266 - 43,603,903 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1443,578,721 - 43,605,720 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1443,024,519 - 43,036,159 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01443,532,873 - 43,544,517 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1443,532,714 - 43,546,331 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11443,648,522 - 43,660,154 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01443,325,031 - 43,336,701 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01443,686,308 - 43,697,947 (+)NCBIUU_Cfam_GSD_1.0
Aqp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511887,935,407 - 87,948,638 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364787,147,027 - 7,160,401 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364787,146,997 - 7,160,369 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AQP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1842,063,485 - 42,076,746 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11842,063,482 - 42,076,741 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
AQP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12127,456,553 - 27,473,196 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2127,456,259 - 27,470,728 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604277,234,082 - 77,247,886 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aqp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624783164,609 - 177,766 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624783164,615 - 177,317 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AQP1
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198098.4(AQP1):c.134C>T (p.Ala45Val) single nucleotide variant COLTON BLOOD GROUP POLYMORPHISM [RCV000019424]|not provided [RCV002054449] Chr7:30912043 [GRCh38]
Chr7:30951658 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.113C>T (p.Pro38Leu) single nucleotide variant Colton-null phenotype [RCV000019425] Chr7:30912022 [GRCh38]
Chr7:30951637 [GRCh37]
Chr7:7p14.3
pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 copy number gain See cases [RCV000051178] Chr7:30420933..34560665 [GRCh38]
Chr7:30460549..34600277 [GRCh37]
Chr7:30427074..34566802 [NCBI36]
Chr7:7p14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_198098.2(AQP1):c.407G>A (p.Gly136Asp) single nucleotide variant Malignant melanoma [RCV000067843] Chr7:30922088 [GRCh38]
Chr7:30961703 [GRCh37]
Chr7:30928228 [NCBI36]
Chr7:7p14.3
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3 copy number gain See cases [RCV000139419] Chr7:30621519..31115117 [GRCh38]
Chr7:30661135..31154731 [GRCh37]
Chr7:30627660..31121256 [NCBI36]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3 copy number gain See cases [RCV000447844] Chr7:30673441..31154672 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3(chr7:30655542-31164655)x4 copy number gain not provided [RCV000746592] Chr7:30655542..31164655 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.180C>T (p.Ile60=) single nucleotide variant AQP1-related disorder [RCV003940371]|not provided [RCV000879158] Chr7:30912089 [GRCh38]
Chr7:30951704 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 copy number gain not provided [RCV001005926] Chr7:28487175..32037495 [GRCh37]
Chr7:7p15.1-14.3
likely pathogenic
NM_198098.4(AQP1):c.385-686G>A single nucleotide variant not provided [RCV001596753] Chr7:30921380 [GRCh38]
Chr7:30960995 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.62C>T (p.Thr21Met) single nucleotide variant not specified [RCV004298771] Chr7:30911971 [GRCh38]
Chr7:30951586 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.549+149G>C single nucleotide variant not provided [RCV001652243] Chr7:30922379 [GRCh38]
Chr7:30961994 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.*56AGGGG[3] microsatellite not provided [RCV001677565] Chr7:30923681..30923682 [GRCh38]
Chr7:30963296..30963297 [GRCh37]
Chr7:7p14.3
benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3 copy number gain not provided [RCV001258937] Chr7:29758030..31318843 [GRCh37]
Chr7:7p14.3
likely pathogenic
NC_000007.13:g.(?_30655492)_(31018859_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV002238224] Chr7:30655492..31018859 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30054351)_(31018859_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001911803] Chr7:30054351..31018859 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1
likely pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic
NM_198098.4(AQP1):c.65C>A (p.Thr22Asn) single nucleotide variant not provided [RCV001867158] Chr7:30911974 [GRCh38]
Chr7:30951589 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.549+12G>A single nucleotide variant not provided [RCV002112247] Chr7:30922242 [GRCh38]
Chr7:30961857 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.550-21_550-18del deletion not provided [RCV002208222] Chr7:30922543..30922546 [GRCh38]
Chr7:30962158..30962161 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.494G>A (p.Gly165Asp) single nucleotide variant not provided [RCV002096902] Chr7:30922175 [GRCh38]
Chr7:30961790 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.631-18C>T single nucleotide variant not provided [RCV002213910] Chr7:30923432 [GRCh38]
Chr7:30963047 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.321C>T (p.Val107=) single nucleotide variant not provided [RCV002213185] Chr7:30912230 [GRCh38]
Chr7:30951845 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.319G>A (p.Val107Ile) single nucleotide variant AQP1-related disorder [RCV003958691]|not provided [RCV002112868] Chr7:30912228 [GRCh38]
Chr7:30951843 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_198098.4(AQP1):c.631-11T>A single nucleotide variant not provided [RCV002216404] Chr7:30923439 [GRCh38]
Chr7:30963054 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.320T>G (p.Val107Gly) single nucleotide variant not provided [RCV002098721] Chr7:30912229 [GRCh38]
Chr7:30951844 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3 copy number gain not provided [RCV002474912] Chr7:30567050..31415774 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.148G>A (p.Val50Met) single nucleotide variant not specified [RCV004212929] Chr7:30912057 [GRCh38]
Chr7:30951672 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.385-10T>A single nucleotide variant not provided [RCV002974894] Chr7:30922056 [GRCh38]
Chr7:30961671 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.219C>T (p.Ala73=) single nucleotide variant not provided [RCV002690306] Chr7:30912128 [GRCh38]
Chr7:30951743 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.772G>A (p.Asp258Asn) single nucleotide variant not specified [RCV004129178] Chr7:30923591 [GRCh38]
Chr7:30963206 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.424G>A (p.Glu142Lys) single nucleotide variant not specified [RCV004086277] Chr7:30922105 [GRCh38]
Chr7:30961720 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.283C>T (p.Leu95Phe) single nucleotide variant not specified [RCV004129842] Chr7:30912192 [GRCh38]
Chr7:30951807 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3
pathogenic
NM_198098.4(AQP1):c.404C>T (p.Ser135Leu) single nucleotide variant not specified [RCV004214566] Chr7:30922085 [GRCh38]
Chr7:30961700 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.631-12C>T single nucleotide variant not provided [RCV002781408] Chr7:30923438 [GRCh38]
Chr7:30963053 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.549+14C>G single nucleotide variant not provided [RCV002711540] Chr7:30922244 [GRCh38]
Chr7:30961859 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.471C>T (p.Thr157=) single nucleotide variant AQP1-related disorder [RCV003963424]|not provided [RCV002922137] Chr7:30922152 [GRCh38]
Chr7:30961767 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.20A>G (p.Lys7Arg) single nucleotide variant not specified [RCV004276080] Chr7:30911929 [GRCh38]
Chr7:30951544 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.307G>C (p.Val103Leu) single nucleotide variant not specified [RCV004349600] Chr7:30912216 [GRCh38]
Chr7:30951831 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.490C>G (p.Leu164Val) single nucleotide variant not specified [RCV004366031] Chr7:30922171 [GRCh38]
Chr7:30961786 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.496G>C (p.Gly166Arg) single nucleotide variant not specified [RCV004354865] Chr7:30922177 [GRCh38]
Chr7:30961792 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.186G>A (p.Thr62=) single nucleotide variant not provided [RCV003878184] Chr7:30912095 [GRCh38]
Chr7:30951710 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.630+19del deletion not provided [RCV003877569] Chr7:30922658 [GRCh38]
Chr7:30962273 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.405G>A (p.Ser135=) single nucleotide variant not provided [RCV003693264] Chr7:30922086 [GRCh38]
Chr7:30961701 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.774C>T (p.Asp258=) single nucleotide variant not provided [RCV003545688] Chr7:30923593 [GRCh38]
Chr7:30963208 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.114G>A (p.Pro38=) single nucleotide variant not provided [RCV003572874] Chr7:30912023 [GRCh38]
Chr7:30951638 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.566_577dup (p.Asn192_Pro193insArgGlyIleAsn) duplication not provided [RCV003671812] Chr7:30922579..30922580 [GRCh38]
Chr7:30962194..30962195 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.582T>A (p.Ala194=) single nucleotide variant not provided [RCV003561637] Chr7:30922596 [GRCh38]
Chr7:30962211 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.140A>G (p.Gln47Arg) single nucleotide variant not provided [RCV003563304] Chr7:30912049 [GRCh38]
Chr7:30951664 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.485G>A (p.Arg162His) single nucleotide variant not provided [RCV003871991] Chr7:30922166 [GRCh38]
Chr7:30961781 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.453A>G (p.Leu151=) single nucleotide variant not provided [RCV003721916] Chr7:30922134 [GRCh38]
Chr7:30961749 [GRCh37]
Chr7:7p14.3
likely benign
GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3 copy number gain not specified [RCV003986699] Chr7:30655068..31166676 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 copy number gain not specified [RCV003986729] Chr7:28940557..31806164 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.456C>T (p.Cys152=) single nucleotide variant AQP1-related disorder [RCV003966456]|not provided [RCV003551762] Chr7:30922137 [GRCh38]
Chr7:30961752 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_198098.4(AQP1):c.29T>G (p.Phe10Cys) single nucleotide variant not specified [RCV004420007] Chr7:30911938 [GRCh38]
Chr7:30951553 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.*282C>T single nucleotide variant AQP1-related disorder [RCV003924497] Chr7:30923911 [GRCh38]
Chr7:30963526 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.185C>T (p.Thr62Met) single nucleotide variant not specified [RCV004420006] Chr7:30912094 [GRCh38]
Chr7:30951709 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.*209G>A single nucleotide variant AQP1-related disorder [RCV003904212] Chr7:30923838 [GRCh38]
Chr7:30963453 [GRCh37]
Chr7:7p14.3
likely benign
NM_198098.4(AQP1):c.*229C>T single nucleotide variant AQP1-related disorder [RCV003934388] Chr7:30923858 [GRCh38]
Chr7:30963473 [GRCh37]
Chr7:7p14.3
benign
NM_198098.4(AQP1):c.476G>A (p.Arg159Gln) single nucleotide variant not specified [RCV004664720] Chr7:30922157 [GRCh38]
Chr7:30961772 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30054351)_(30963244_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV004583590] Chr7:30054351..30963244 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.47C>T (p.Ala16Val) single nucleotide variant not specified [RCV004664722] Chr7:30911956 [GRCh38]
Chr7:30951571 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.551T>C (p.Ile184Thr) single nucleotide variant not specified [RCV004654001] Chr7:30922565 [GRCh38]
Chr7:30962180 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_198098.4(AQP1):c.707G>T (p.Ser236Ile) single nucleotide variant not specified [RCV004654002] Chr7:30923526 [GRCh38]
Chr7:30963141 [GRCh37]
Chr7:7p14.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3094
Count of miRNA genes:784
Interacting mature miRNAs:925
Transcripts:ENST00000311813, ENST00000409611, ENST00000409899, ENST00000434909, ENST00000441328, ENST00000482461
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596952353GWAS1071872_Hbone density QTL GWAS1071872 (human)1e-14bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)73091592430915925Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human

Markers in Region
WI-9113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,963,506 - 30,963,623UniSTSGRCh37
Build 36730,930,031 - 30,930,148RGDNCBI36
Celera730,952,712 - 30,952,829RGD
Cytogenetic Map7p14UniSTS
HuRef730,845,726 - 30,845,843UniSTS
CRA_TCAGchr7v2731,013,012 - 31,013,129UniSTS
GeneMap99-GB4 RH Map7152.14UniSTS
Whitehead-RH Map785.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
STS-M77829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,963,379 - 30,963,591UniSTSGRCh37
Build 36730,929,904 - 30,930,116RGDNCBI36
Celera730,952,585 - 30,952,797RGD
Cytogenetic Map7p14UniSTS
HuRef730,845,599 - 30,845,811UniSTS
CRA_TCAGchr7v2731,012,885 - 31,013,097UniSTS
GeneMap99-GB4 RH Map7139.75UniSTS
NCBI RH Map7461.8UniSTS
AQP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,951,537 - 30,951,966UniSTSGRCh37
Build 36730,918,062 - 30,918,491RGDNCBI36
Celera730,940,743 - 30,941,172RGD
Cytogenetic Map7p14UniSTS
HuRef730,833,759 - 30,834,188UniSTS
CRA_TCAGchr7v2731,001,043 - 31,001,472UniSTS
GDB:593256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,952,569 - 30,952,654UniSTSGRCh37
Build 36730,919,094 - 30,919,179RGDNCBI36
Celera730,941,775 - 30,941,860RGD
Cytogenetic Map7p14UniSTS
HuRef730,834,791 - 30,834,876UniSTS
CRA_TCAGchr7v2731,002,075 - 31,002,160UniSTS
G68146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,961,626 - 30,962,052UniSTSGRCh37
Build 36730,928,151 - 30,928,577RGDNCBI36
Celera730,950,832 - 30,951,258RGD
Cytogenetic Map7p14UniSTS
HuRef730,843,846 - 30,844,272UniSTS
CRA_TCAGchr7v2731,011,132 - 31,011,558UniSTS
G68147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,962,102 - 30,962,385UniSTSGRCh37
Build 36730,928,627 - 30,928,910RGDNCBI36
Celera730,951,308 - 30,951,591RGD
Cytogenetic Map7p14UniSTS
HuRef730,844,322 - 30,844,605UniSTS
CRA_TCAGchr7v2731,011,608 - 31,011,891UniSTS
G68149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,962,918 - 30,963,434UniSTSGRCh37
Build 36730,929,443 - 30,929,959RGDNCBI36
Celera730,952,124 - 30,952,640RGD
Cytogenetic Map7p14UniSTS
HuRef730,845,138 - 30,845,654UniSTS
CRA_TCAGchr7v2731,012,424 - 31,012,940UniSTS
A007C48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,964,920 - 30,965,077UniSTSGRCh37
Build 36730,931,445 - 30,931,602RGDNCBI36
Celera730,954,126 - 30,954,283RGD
Cytogenetic Map7p14UniSTS
HuRef730,847,140 - 30,847,297UniSTS
CRA_TCAGchr7v2731,014,426 - 31,014,583UniSTS
GeneMap99-GB4 RH Map7140.13UniSTS
D7S2755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,964,868 - 30,964,985UniSTSGRCh37
Build 36730,931,393 - 30,931,510RGDNCBI36
Celera730,954,074 - 30,954,191RGD
Cytogenetic Map7p14UniSTS
HuRef730,847,088 - 30,847,205UniSTS
CRA_TCAGchr7v2731,014,374 - 31,014,491UniSTS
TNG Radiation Hybrid Map714607.0UniSTS
Stanford-G3 RH Map71267.0UniSTS
NCBI RH Map7461.0UniSTS
GeneMap99-G3 RH Map71267.0UniSTS
T03581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,964,838 - 30,965,090UniSTSGRCh37
Build 36730,931,363 - 30,931,615RGDNCBI36
Celera730,954,044 - 30,954,296RGD
Cytogenetic Map7p14UniSTS
HuRef730,847,058 - 30,847,310UniSTS
CRA_TCAGchr7v2731,014,344 - 31,014,596UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2041E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,964,668 - 30,964,797UniSTSGRCh37
Build 36730,931,193 - 30,931,322RGDNCBI36
Celera730,953,874 - 30,954,003RGD
Cytogenetic Map7p14UniSTS
HuRef730,846,888 - 30,847,017UniSTS
CRA_TCAGchr7v2731,014,174 - 31,014,303UniSTS
TNG Radiation Hybrid Map714602.0UniSTS
Stanford-G3 RH Map71279.0UniSTS
GeneMap99-GB4 RH Map7138.93UniSTS
NCBI RH Map7461.8UniSTS
GeneMap99-G3 RH Map71279.0UniSTS
D7S2065E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,964,110 - 30,964,225UniSTSGRCh37
Build 36730,930,635 - 30,930,750RGDNCBI36
Celera730,953,316 - 30,953,431RGD
Cytogenetic Map7p14UniSTS
HuRef730,846,330 - 30,846,445UniSTS
CRA_TCAGchr7v2731,013,616 - 31,013,731UniSTS
TNG Radiation Hybrid Map714593.0UniSTS
Stanford-G3 RH Map71282.0UniSTS
NCBI RH Map7462.9UniSTS
GeneMap99-G3 RH Map71282.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2241 4956 1723 2340 6 621 1799 462 2255 7159 6330 52 3731 1 849 1742 1608 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF480415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ307585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM992149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU122128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY312580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY312581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY953319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI837828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA197236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA712111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN555132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC491381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC491382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC491383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN879397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT540554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT540555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT540556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL690296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U41517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U41518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311813   ⟹   ENSP00000311165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,911,853 - 30,925,516 (+)Ensembl
Ensembl Acc Id: ENST00000409611   ⟹   ENSP00000387178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,921,490 - 30,923,994 (+)Ensembl
Ensembl Acc Id: ENST00000409899   ⟹   ENSP00000386712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,921,434 - 30,924,021 (+)Ensembl
Ensembl Acc Id: ENST00000441328   ⟹   ENSP00000405698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,912,055 - 30,925,474 (+)Ensembl
Ensembl Acc Id: ENST00000482461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,913,291 - 30,923,662 (+)Ensembl
Ensembl Acc Id: ENST00000651610   ⟹   ENSP00000499196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,922,578 - 30,924,072 (+)Ensembl
Ensembl Acc Id: ENST00000652692   ⟹   ENSP00000498806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,912,122 - 30,925,517 (+)Ensembl
Ensembl Acc Id: ENST00000652696   ⟹   ENSP00000498672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,911,853 - 30,925,501 (+)Ensembl
RefSeq Acc Id: NM_001329872   ⟹   NP_001316801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,911,853 - 30,925,516 (+)NCBI
T2T-CHM13v2.0731,049,501 - 31,063,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198098   ⟹   NP_932766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,911,853 - 30,925,516 (+)NCBI
GRCh37730,951,415 - 30,965,131 (+)ENTREZGENE
Build 36730,917,993 - 30,931,656 (+)NCBI Archive
HuRef730,833,637 - 30,847,351 (+)ENTREZGENE
CHM1_1730,951,350 - 30,965,064 (+)NCBI
T2T-CHM13v2.0731,049,501 - 31,063,163 (+)NCBI
CRA_TCAGchr7v2731,000,921 - 31,014,637 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001316801 (Get FASTA)   NCBI Sequence Viewer  
  NP_932766 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA58425 (Get FASTA)   NCBI Sequence Viewer  
  AAB31193 (Get FASTA)   NCBI Sequence Viewer  
  AAC16481 (Get FASTA)   NCBI Sequence Viewer  
  AAC23788 (Get FASTA)   NCBI Sequence Viewer  
  AAC50648 (Get FASTA)   NCBI Sequence Viewer  
  AAC50649 (Get FASTA)   NCBI Sequence Viewer  
  AAH22486 (Get FASTA)   NCBI Sequence Viewer  
  AAL87136 (Get FASTA)   NCBI Sequence Viewer  
  AAR16185 (Get FASTA)   NCBI Sequence Viewer  
  AAR16186 (Get FASTA)   NCBI Sequence Viewer  
  AAX24129 (Get FASTA)   NCBI Sequence Viewer  
  AHA59261 (Get FASTA)   NCBI Sequence Viewer  
  AHA59262 (Get FASTA)   NCBI Sequence Viewer  
  AHA59263 (Get FASTA)   NCBI Sequence Viewer  
  BAG35539 (Get FASTA)   NCBI Sequence Viewer  
  BAG60376 (Get FASTA)   NCBI Sequence Viewer  
  BAG60567 (Get FASTA)   NCBI Sequence Viewer  
  BAG62614 (Get FASTA)   NCBI Sequence Viewer  
  BAG62897 (Get FASTA)   NCBI Sequence Viewer  
  BAG65455 (Get FASTA)   NCBI Sequence Viewer  
  BAG70089 (Get FASTA)   NCBI Sequence Viewer  
  BAG70216 (Get FASTA)   NCBI Sequence Viewer  
  CAC84072 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51480 (Get FASTA)   NCBI Sequence Viewer  
  CBG76070 (Get FASTA)   NCBI Sequence Viewer  
  CUI25750 (Get FASTA)   NCBI Sequence Viewer  
  EAL24446 (Get FASTA)   NCBI Sequence Viewer  
  EAW93971 (Get FASTA)   NCBI Sequence Viewer  
  EAW93972 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311165
  ENSP00000311165.4
  ENSP00000386712.1
  ENSP00000387178.1
  ENSP00000498672.1
  ENSP00000498806.1
  ENSP00000499196.1
GenBank Protein P29972 (Get FASTA)   NCBI Sequence Viewer  
  QOL09539 (Get FASTA)   NCBI Sequence Viewer  
  QOL09540 (Get FASTA)   NCBI Sequence Viewer  
  QOL09541 (Get FASTA)   NCBI Sequence Viewer  
  UQX14434 (Get FASTA)   NCBI Sequence Viewer  
  UQX14435 (Get FASTA)   NCBI Sequence Viewer  
  UQX14436 (Get FASTA)   NCBI Sequence Viewer  
  UQX14437 (Get FASTA)   NCBI Sequence Viewer  
  UQX14438 (Get FASTA)   NCBI Sequence Viewer  
  UZH24650 (Get FASTA)   NCBI Sequence Viewer  
  UZH24651 (Get FASTA)   NCBI Sequence Viewer  
  UZH24652 (Get FASTA)   NCBI Sequence Viewer  
  UZH24653 (Get FASTA)   NCBI Sequence Viewer  
  UZH24654 (Get FASTA)   NCBI Sequence Viewer  
  UZH24655 (Get FASTA)   NCBI Sequence Viewer  
  UZH24656 (Get FASTA)   NCBI Sequence Viewer  
  UZH24657 (Get FASTA)   NCBI Sequence Viewer  
  UZH24658 (Get FASTA)   NCBI Sequence Viewer  
  UZH24659 (Get FASTA)   NCBI Sequence Viewer  
  UZH24660 (Get FASTA)   NCBI Sequence Viewer  
  UZH24661 (Get FASTA)   NCBI Sequence Viewer  
  UZH24662 (Get FASTA)   NCBI Sequence Viewer  
  UZH24663 (Get FASTA)   NCBI Sequence Viewer  
  UZH24664 (Get FASTA)   NCBI Sequence Viewer  
  UZH24665 (Get FASTA)   NCBI Sequence Viewer  
  UZH24666 (Get FASTA)   NCBI Sequence Viewer  
  UZH24667 (Get FASTA)   NCBI Sequence Viewer  
  UZH24668 (Get FASTA)   NCBI Sequence Viewer  
  UZH24669 (Get FASTA)   NCBI Sequence Viewer  
  UZH24670 (Get FASTA)   NCBI Sequence Viewer  
  UZH24671 (Get FASTA)   NCBI Sequence Viewer  
  UZH24672 (Get FASTA)   NCBI Sequence Viewer  
  UZH24673 (Get FASTA)   NCBI Sequence Viewer  
  UZH24674 (Get FASTA)   NCBI Sequence Viewer  
  UZH24675 (Get FASTA)   NCBI Sequence Viewer  
  UZH24676 (Get FASTA)   NCBI Sequence Viewer  
  UZH24677 (Get FASTA)   NCBI Sequence Viewer  
  UZH24678 (Get FASTA)   NCBI Sequence Viewer  
  UZH24679 (Get FASTA)   NCBI Sequence Viewer  
  UZH24680 (Get FASTA)   NCBI Sequence Viewer  
  UZH24681 (Get FASTA)   NCBI Sequence Viewer  
  UZH24682 (Get FASTA)   NCBI Sequence Viewer  
  UZH24683 (Get FASTA)   NCBI Sequence Viewer  
  UZH24684 (Get FASTA)   NCBI Sequence Viewer  
  UZH24685 (Get FASTA)   NCBI Sequence Viewer  
  UZH24686 (Get FASTA)   NCBI Sequence Viewer  
  UZH24687 (Get FASTA)   NCBI Sequence Viewer  
  UZH24688 (Get FASTA)   NCBI Sequence Viewer  
  UZH24689 (Get FASTA)   NCBI Sequence Viewer  
  UZH24690 (Get FASTA)   NCBI Sequence Viewer  
  UZH24691 (Get FASTA)   NCBI Sequence Viewer  
  UZH24692 (Get FASTA)   NCBI Sequence Viewer  
  UZH24693 (Get FASTA)   NCBI Sequence Viewer  
  UZH24694 (Get FASTA)   NCBI Sequence Viewer  
  UZH24695 (Get FASTA)   NCBI Sequence Viewer  
  UZH24696 (Get FASTA)   NCBI Sequence Viewer  
  UZH24697 (Get FASTA)   NCBI Sequence Viewer  
  UZH24698 (Get FASTA)   NCBI Sequence Viewer  
  UZH24699 (Get FASTA)   NCBI Sequence Viewer  
  UZH24700 (Get FASTA)   NCBI Sequence Viewer  
  UZH24701 (Get FASTA)   NCBI Sequence Viewer  
  UZH24702 (Get FASTA)   NCBI Sequence Viewer  
  UZH24703 (Get FASTA)   NCBI Sequence Viewer  
  UZH24704 (Get FASTA)   NCBI Sequence Viewer  
  UZH24705 (Get FASTA)   NCBI Sequence Viewer  
  UZH24706 (Get FASTA)   NCBI Sequence Viewer  
  UZH24707 (Get FASTA)   NCBI Sequence Viewer  
  UZH24708 (Get FASTA)   NCBI Sequence Viewer  
  UZH24709 (Get FASTA)   NCBI Sequence Viewer  
  UZH24710 (Get FASTA)   NCBI Sequence Viewer  
  UZH24711 (Get FASTA)   NCBI Sequence Viewer  
  UZH24712 (Get FASTA)   NCBI Sequence Viewer  
  UZH24713 (Get FASTA)   NCBI Sequence Viewer  
  UZH24714 (Get FASTA)   NCBI Sequence Viewer  
  UZH24715 (Get FASTA)   NCBI Sequence Viewer  
  UZH24716 (Get FASTA)   NCBI Sequence Viewer  
  UZH24717 (Get FASTA)   NCBI Sequence Viewer  
  UZH24718 (Get FASTA)   NCBI Sequence Viewer  
  UZH24719 (Get FASTA)   NCBI Sequence Viewer  
  UZH24720 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_932766   ⟸   NM_198098
- Peptide Label: isoform 1
- UniProtKB: Q8TBI5 (UniProtKB/Swiss-Prot),   F5GY19 (UniProtKB/Swiss-Prot),   E9PC21 (UniProtKB/Swiss-Prot),   E7EM69 (UniProtKB/Swiss-Prot),   B5BU39 (UniProtKB/Swiss-Prot),   Q8TDC1 (UniProtKB/Swiss-Prot),   P29972 (UniProtKB/Swiss-Prot),   A0A024RA31 (UniProtKB/TrEMBL),   A0A0M7BEW0 (UniProtKB/TrEMBL),   B2R6P2 (UniProtKB/TrEMBL),   B4F4P6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316801   ⟸   NM_001329872
- Peptide Label: isoform 5
- UniProtKB: A0A0M7BEW0 (UniProtKB/TrEMBL),   B2R6P2 (UniProtKB/TrEMBL),   B4F4P6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000499196   ⟸   ENST00000651610
Ensembl Acc Id: ENSP00000405698   ⟸   ENST00000441328
Ensembl Acc Id: ENSP00000498806   ⟸   ENST00000652692
Ensembl Acc Id: ENSP00000498672   ⟸   ENST00000652696
Ensembl Acc Id: ENSP00000311165   ⟸   ENST00000311813
Ensembl Acc Id: ENSP00000386712   ⟸   ENST00000409899
Ensembl Acc Id: ENSP00000387178   ⟸   ENST00000409611

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29972-F1-model_v2 AlphaFold P29972 1-269 view protein structure

Promoters
RGD ID:7210307
Promoter ID:EPDNEW_H10900
Type:multiple initiation site
Name:AQP1_1
Description:aquaporin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10901  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,911,853 - 30,911,913EPDNEW
RGD ID:6851320
Promoter ID:EP73458
Type:single initiation site
Name:HS_AQP1
Description:Aquaporin 1 (channel-forming integral protein, 28kDa).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36730,917,993 - 30,918,053EPD
RGD ID:7210309
Promoter ID:EPDNEW_H10901
Type:initiation region
Name:AQP1_2
Description:aquaporin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10900  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,921,384 - 30,921,444EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:633 AgrOrtholog
COSMIC AQP1 COSMIC
Ensembl Genes ENSG00000240583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311813 ENTREZGENE
  ENST00000311813.11 UniProtKB/Swiss-Prot
  ENST00000409611.1 UniProtKB/Swiss-Prot
  ENST00000409899.5 UniProtKB/Swiss-Prot
  ENST00000651610.1 UniProtKB/TrEMBL
  ENST00000652692.1 UniProtKB/TrEMBL
  ENST00000652696.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000240583 GTEx
HGNC ID HGNC:633 ENTREZGENE
Human Proteome Map AQP1 Human Proteome Map
InterPro Aquaporin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aquaporin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aquaporin_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:358 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 358 ENTREZGENE
OMIM 107776 OMIM
PANTHER AQUAPORIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19139 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24918 PharmGKB
PRINTS AQUAPORIN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MINTRINSICP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RA31 ENTREZGENE, UniProtKB/TrEMBL
  A0A0M7BEW0 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C115_HUMAN UniProtKB/TrEMBL
  A0A494C1U4_HUMAN UniProtKB/TrEMBL
  A0A7L9R2Q4_HUMAN UniProtKB/TrEMBL
  AQP1_HUMAN UniProtKB/Swiss-Prot
  B2R6P2 ENTREZGENE, UniProtKB/TrEMBL
  B4F4P6 ENTREZGENE, UniProtKB/TrEMBL
  B5BU39 ENTREZGENE
  E7EM69 ENTREZGENE
  E9PC21 ENTREZGENE
  F5GY19 ENTREZGENE
  P29972 ENTREZGENE
  Q6JSD7_HUMAN UniProtKB/TrEMBL
  Q6JSD8_HUMAN UniProtKB/TrEMBL
  Q8TBI5 ENTREZGENE
  Q8TCV1_HUMAN UniProtKB/TrEMBL
  Q8TDC1 ENTREZGENE
UniProt Secondary B5BU39 UniProtKB/Swiss-Prot
  E7EM69 UniProtKB/Swiss-Prot
  E9PC21 UniProtKB/Swiss-Prot
  F5GY19 UniProtKB/Swiss-Prot
  Q8TBI5 UniProtKB/Swiss-Prot
  Q8TDC1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-01-21 AQP1  aquaporin 1 (Colton blood group)    aquaporin 1  Symbol and/or name change 5135510 APPROVED
2013-09-17 AQP1  aquaporin 1    aquaporin 1 (Colton blood group)  Symbol and/or name change 5135510 APPROVED