AMBP (alpha-1-microglobulin/bikunin precursor) - Rat Genome Database

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Gene: AMBP (alpha-1-microglobulin/bikunin precursor) Homo sapiens
Analyze
Symbol: AMBP
Name: alpha-1-microglobulin/bikunin precursor
RGD ID: 735479
HGNC Page HGNC:453
Description: Enables several functions, including IgA binding activity; chondroitin sulfate binding activity; and collagen fibril binding activity. Involved in several processes, including cellular oxidant detoxification; cytochrome c metabolic process; and hemoglobin metabolic process. Located in extracellular space; matrix side of mitochondrial inner membrane; and plasma membrane. Implicated in acute kidney failure and adult respiratory distress syndrome. Biomarker of asthma; calcium oxalate nephrolithiasis; kidney failure; and pyelonephritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A1M; alpha 1 microglobulin/bikunin; alpha-1-microglobulin/bikunin; bikunin; complex-forming glycoprotein heterogeneous in charge; EDC1; growth-inhibiting protein 19; HCP; HI30; IATIL; inter-alpha-trypsin inhibitor light chain; ITI; ITIL; ITILC; protein HC; trypstatin; uristatin; uronic-acid-rich protein; UTI
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
GRCh389114,060,127 - 114,078,300 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,060,127 - 114,078,328 (-)EnsemblGRCh38hg38GRCh38
GRCh379116,822,407 - 116,840,580 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,862,228 - 115,880,536 (-)NCBINCBI36Build 36hg18NCBI36
Build 349113,901,963 - 113,920,269NCBI
Celera987,469,703 - 87,488,044 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,428,731 - 86,447,071 (-)NCBIHuRef
CHM1_19116,968,857 - 116,987,201 (-)NCBICHM1_1
T2T-CHM13v2.09126,258,798 - 126,276,960 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
8-anilinonaphthalene-1-sulfonic acid  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benazepril  (EXP)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcium silicate  (ISO)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
cisplatin  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DAUDA  (EXP)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
ferroheme b  (EXP)
fulvestrant  (EXP)
furan  (ISO)
graphite  (ISO)
heme b  (EXP)
histamine  (ISO)
hydroquinone  (EXP)
ibuprofen  (EXP)
leukotriene C4  (ISO)
lipopolysaccharide  (EXP)
losartan  (EXP)
mercury dibromide  (EXP)
metformin  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
reactive oxygen species  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
XL147  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Urine protein markers distinguish stone-forming from non-stone-forming relatives of calcium stone formers. Bergsland KJ, etal., Am J Physiol Renal Physiol. 2006 Sep;291(3):F530-6. Epub 2006 Apr 18.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Oxalate-inducible AMBP gene and its regulatory mechanism in renal tubular epithelial cells. Grewal JS, etal., Biochem J. 2005 May 1;387(Pt 3):609-16.
4. Effect of Ulinastatin, a human urinary trypsin inhibitor, on the oleic acid-induced acute lung injury in rats via the inhibition of activated leukocytes. Ito K, etal., Injury. 2005 Mar;36(3):387-94.
5. Urinary excretion of low molecular weight proteins in patients with pure monoclonal light chain proteinuria. Madalena L, etal., J Nephrol. 2007 Nov-Dec;20(6):683-8.
6. Protective effect of human ulinastatin against gentamicin-induced acute renal failure in rats. Nakakuki M, etal., Can J Physiol Pharmacol. 1996 Jan;74(1):104-11.
7. [Evaluation of inflammatory and renal injury markers in youngest children with pyelonephritis]. Puczko-Michalczuk A, etal., Pol Merkur Lekarski. 2008 Dec;25(150):451-4.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Significant elevation of urinary trypsin inhibitor in patients with brain contusion--a preliminary report. Sakai K, etal., J Clin Neurosci. 2003 Nov;10(6):677-9.
11. Alpha-1 microglobulin as a new inflammatory marker in newly diagnosed hypertensive patients. Vyssoulis GP, etal., Am J Hypertens. 2007 Sep;20(9):1016-21.
12. Increased serum concentration of urinary trypsin inhibitor with asthma exacerbation. Yasui K, etal., Eur Respir J. 2003 Nov;22(5):739-42.
Additional References at PubMed
PMID:72071   PMID:1385302   PMID:1694784   PMID:1696200   PMID:1697852   PMID:1700638   PMID:1708673   PMID:1714898   PMID:1898736   PMID:2408638   PMID:2413856   PMID:2419908  
PMID:2428011   PMID:2430261   PMID:2465147   PMID:2472935   PMID:2482577   PMID:3663330   PMID:3890890   PMID:6164372   PMID:6171497   PMID:6196366   PMID:6198962   PMID:7506257  
PMID:7513643   PMID:7519849   PMID:7528952   PMID:7533162   PMID:7535251   PMID:7682553   PMID:9183005   PMID:9472382   PMID:9566199   PMID:9570066   PMID:9671439   PMID:10097787  
PMID:10447938   PMID:10480954   PMID:10631976   PMID:10727951   PMID:10878892   PMID:11036097   PMID:11058759   PMID:11807786   PMID:11877257   PMID:11883904   PMID:12477932   PMID:12817471  
PMID:14516400   PMID:14597629   PMID:14718574   PMID:15037615   PMID:15452109   PMID:15489334   PMID:15498571   PMID:15653696   PMID:15683711   PMID:16140784   PMID:16364318   PMID:16407257  
PMID:16502470   PMID:16712791   PMID:16873769   PMID:16916777   PMID:17087727   PMID:17115277   PMID:17146627   PMID:17207965   PMID:17320766   PMID:17584166   PMID:17633530   PMID:17766242  
PMID:17998887   PMID:18226914   PMID:18448433   PMID:18624398   PMID:18649735   PMID:19056867   PMID:19636634   PMID:19879940   PMID:19913121   PMID:19914646   PMID:20463016   PMID:20602574  
PMID:20628086   PMID:20954860   PMID:21067798   PMID:21332340   PMID:21873635   PMID:21988832   PMID:22096585   PMID:22516433   PMID:22595828   PMID:22684072   PMID:23157686   PMID:23324582  
PMID:23376485   PMID:23414180   PMID:23533145   PMID:23642167   PMID:23801333   PMID:23841057   PMID:23919851   PMID:24012674   PMID:24135868   PMID:24211404   PMID:24698819   PMID:24980765  
PMID:25037231   PMID:25301953   PMID:25370597   PMID:25416956   PMID:25555815   PMID:25561734   PMID:26202000   PMID:26208400   PMID:26497278   PMID:26681130   PMID:26728454   PMID:27155336  
PMID:27559042   PMID:28675934   PMID:30272341   PMID:31189914   PMID:31233368   PMID:31240132   PMID:31281843   PMID:31952546   PMID:32092412   PMID:32915914   PMID:33008134   PMID:33607500  
PMID:34206377   PMID:35944360   PMID:36244648   PMID:37343697   PMID:37827155   PMID:37861555  


Genomics

Comparative Map Data
AMBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389114,060,127 - 114,078,300 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,060,127 - 114,078,328 (-)EnsemblGRCh38hg38GRCh38
GRCh379116,822,407 - 116,840,580 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,862,228 - 115,880,536 (-)NCBINCBI36Build 36hg18NCBI36
Build 349113,901,963 - 113,920,269NCBI
Celera987,469,703 - 87,488,044 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,428,731 - 86,447,071 (-)NCBIHuRef
CHM1_19116,968,857 - 116,987,201 (-)NCBICHM1_1
T2T-CHM13v2.09126,258,798 - 126,276,960 (-)NCBIT2T-CHM13v2.0
Ambp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39463,061,512 - 63,072,409 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl463,061,512 - 63,073,036 (-)EnsemblGRCm39 Ensembl
GRCm38463,143,275 - 63,154,172 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl463,143,275 - 63,154,799 (-)EnsemblGRCm38mm10GRCm38
MGSCv37462,804,313 - 62,815,176 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36462,629,640 - 62,640,503 (-)NCBIMGSCv36mm8
Celera461,799,977 - 61,810,839 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.96NCBI
Ambp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8581,583,621 - 81,593,938 (-)NCBIGRCr8
mRatBN7.2576,568,094 - 76,578,416 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl576,568,094 - 76,578,331 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx578,967,475 - 78,977,717 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0580,784,609 - 80,794,851 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0580,760,118 - 80,770,360 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0578,975,690 - 78,986,021 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl578,975,678 - 78,985,990 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0583,093,799 - 83,104,019 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4580,119,742 - 80,129,962 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1580,124,854 - 80,135,075 (-)NCBI
Celera575,505,542 - 75,515,762 (-)NCBICelera
Cytogenetic Map5q24NCBI
Ambp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541913,478,552 - 13,492,327 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541913,478,904 - 13,492,329 (+)NCBIChiLan1.0ChiLan1.0
AMBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21125,296,801 - 25,317,823 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1925,299,162 - 25,320,209 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0985,157,680 - 85,176,253 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19113,525,136 - 113,543,680 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9113,525,835 - 113,543,422 (-)Ensemblpanpan1.1panPan2
AMBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11168,338,644 - 68,353,366 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1168,338,389 - 68,351,994 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1166,741,500 - 66,756,216 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01169,461,851 - 69,476,622 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1169,461,782 - 69,475,427 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11167,978,768 - 67,993,416 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01168,009,752 - 68,024,455 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01168,747,753 - 68,762,492 (-)NCBIUU_Cfam_GSD_1.0
Ambp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947183,631,164 - 183,643,649 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364873,399,792 - 3,412,088 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1254,683,891 - 254,703,225 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11254,683,885 - 254,703,220 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21285,710,963 - 285,725,500 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1qNCBI
AMBP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11225,508,516 - 25,526,821 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1225,508,682 - 25,527,016 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603517,294,343 - 17,312,444 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ambp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476021,047,303 - 21,068,076 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476021,047,576 - 21,064,698 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMBP
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001633.3(AMBP):c.876C>T (p.Val292=) single nucleotide variant Malignant melanoma [RCV000068500] Chr9:114061076 [GRCh38]
Chr9:116823356 [GRCh37]
Chr9:115863177 [NCBI36]
Chr9:9q32		 not provided
NM_001633.3(AMBP):c.605G>A (p.Arg202Lys) single nucleotide variant Malignant melanoma [RCV000068501] Chr9:114062757 [GRCh38]
Chr9:116825037 [GRCh37]
Chr9:115864858 [NCBI36]
Chr9:9q32		 not provided
NM_001633.3(AMBP):c.954G>A (p.Gly318=) single nucleotide variant Malignant melanoma [RCV000061864] Chr9:114060998 [GRCh38]
Chr9:116823278 [GRCh37]
Chr9:115863099 [NCBI36]
Chr9:9q32		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32(chr9:116822389-116859863)x3 copy number gain See cases [RCV000446224] Chr9:116822389..116859863 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2		 pathogenic
NM_001633.4(AMBP):c.422A>G (p.His141Arg) single nucleotide variant not specified [RCV004327030] Chr9:114074068 [GRCh38]
Chr9:116836348 [GRCh37]
Chr9:9q32		 likely benign
NM_001633.4(AMBP):c.784G>A (p.Gly262Ser) single nucleotide variant not specified [RCV004295587] Chr9:114061493 [GRCh38]
Chr9:116823773 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.67C>G (p.Pro23Ala) single nucleotide variant not specified [RCV004300144] Chr9:114078143 [GRCh38]
Chr9:116840423 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.56C>T (p.Ala19Val) single nucleotide variant not specified [RCV004312357] Chr9:114078154 [GRCh38]
Chr9:116840434 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_001633.4(AMBP):c.90A>C (p.Gln30His) single nucleotide variant not specified [RCV004308503] Chr9:114078120 [GRCh38]
Chr9:116840400 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q32(chr9:116813039-116867054)x3 copy number gain not provided [RCV000748631] Chr9:116813039..116867054 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q32(chr9:116816780-116870232)x3 copy number gain not provided [RCV000748632] Chr9:116816780..116870232 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32(chr9:116754414-116840509)x1 copy number loss not provided [RCV001006256] Chr9:116754414..116840509 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.556+6T>C single nucleotide variant not provided [RCV000885913] Chr9:114072919 [GRCh38]
Chr9:116835199 [GRCh37]
Chr9:9q32		 benign
NM_001633.4(AMBP):c.884C>T (p.Pro295Leu) single nucleotide variant not specified [RCV004286577] Chr9:114061068 [GRCh38]
Chr9:116823348 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q32(chr9:116642144-117613527)x1 copy number loss not provided [RCV001006255] Chr9:116642144..117613527 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q32-33.1(chr9:116506015-119942279) copy number loss not specified [RCV002052832] Chr9:116506015..119942279 [GRCh37]
Chr9:9q32-33.1		 uncertain significance
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
NC_000009.11:g.(?_116037910)_(116993432_?)dup duplication not provided [RCV003123074] Chr9:116037910..116993432 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001633.4(AMBP):c.1001G>C (p.Arg334Thr) single nucleotide variant not specified [RCV004294734] Chr9:114060951 [GRCh38]
Chr9:116823231 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q32(chr9:116754415-116840509)x1 copy number loss not provided [RCV002472854] Chr9:116754415..116840509 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.978G>T (p.Lys326Asn) single nucleotide variant not specified [RCV004156322] Chr9:114060974 [GRCh38]
Chr9:116823254 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.189G>A (p.Met63Ile) single nucleotide variant not specified [RCV004173057] Chr9:114076669 [GRCh38]
Chr9:116838949 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.590C>T (p.Pro197Leu) single nucleotide variant not specified [RCV004235394] Chr9:114069712 [GRCh38]
Chr9:116831992 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.181G>A (p.Asp61Asn) single nucleotide variant not specified [RCV004122420] Chr9:114076677 [GRCh38]
Chr9:116838957 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.826G>C (p.Glu276Gln) single nucleotide variant not specified [RCV004142638] Chr9:114061451 [GRCh38]
Chr9:116823731 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.554G>A (p.Arg185Gln) single nucleotide variant not specified [RCV004173241] Chr9:114072927 [GRCh38]
Chr9:116835207 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.1022G>A (p.Gly341Asp) single nucleotide variant not specified [RCV004165084] Chr9:114060930 [GRCh38]
Chr9:116823210 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.425A>G (p.His142Arg) single nucleotide variant not specified [RCV004095406] Chr9:114074065 [GRCh38]
Chr9:116836345 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.152C>T (p.Ser51Phe) single nucleotide variant not specified [RCV004252522] Chr9:114076706 [GRCh38]
Chr9:116838986 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.362A>G (p.Tyr121Cys) single nucleotide variant not specified [RCV004259876] Chr9:114074128 [GRCh38]
Chr9:116836408 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.5G>A (p.Arg2Lys) single nucleotide variant not specified [RCV004277471] Chr9:114078205 [GRCh38]
Chr9:116840485 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.220G>A (p.Ala74Thr) single nucleotide variant not specified [RCV004253842] Chr9:114076638 [GRCh38]
Chr9:116838918 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.116G>A (p.Arg39Gln) single nucleotide variant not specified [RCV004323396] Chr9:114078094 [GRCh38]
Chr9:116840374 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.802G>A (p.Gly268Ser) single nucleotide variant not provided [RCV003425760] Chr9:114061475 [GRCh38]
Chr9:116823755 [GRCh37]
Chr9:9q32		 likely benign
NM_001633.4(AMBP):c.854C>T (p.Ala285Val) single nucleotide variant not specified [RCV004340028] Chr9:114061098 [GRCh38]
Chr9:116823378 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.254G>A (p.Arg85His) single nucleotide variant not specified [RCV004358598] Chr9:114076604 [GRCh38]
Chr9:116838884 [GRCh37]
Chr9:9q32		 likely benign
NM_001633.4(AMBP):c.13G>A (p.Gly5Arg) single nucleotide variant not provided [RCV003430210] Chr9:114078197 [GRCh38]
Chr9:116840477 [GRCh37]
Chr9:9q32		 likely benign
NM_001633.4(AMBP):c.1028G>A (p.Gly343Asp) single nucleotide variant not specified [RCV004413985] Chr9:114060270 [GRCh38]
Chr9:116822550 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.421C>T (p.His141Tyr) single nucleotide variant not specified [RCV004414009] Chr9:114074069 [GRCh38]
Chr9:116836349 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.545T>C (p.Met182Thr) single nucleotide variant not specified [RCV004414017] Chr9:114072936 [GRCh38]
Chr9:116835216 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.553C>G (p.Arg185Gly) single nucleotide variant not specified [RCV004414021] Chr9:114072928 [GRCh38]
Chr9:116835208 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.218G>A (p.Gly73Asp) single nucleotide variant not specified [RCV004414004] Chr9:114076640 [GRCh38]
Chr9:116838920 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.706T>G (p.Ser236Ala) single nucleotide variant not specified [RCV004414042] Chr9:114061571 [GRCh38]
Chr9:116823851 [GRCh37]
Chr9:9q32		 likely benign
NM_001633.4(AMBP):c.881G>C (p.Gly294Ala) single nucleotide variant not specified [RCV004414054] Chr9:114061071 [GRCh38]
Chr9:116823351 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.965G>A (p.Gly322Asp) single nucleotide variant not specified [RCV004414064] Chr9:114060987 [GRCh38]
Chr9:116823267 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.863A>C (p.Asn288Thr) single nucleotide variant not specified [RCV004414051] Chr9:114061089 [GRCh38]
Chr9:116823369 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.674C>A (p.Thr225Asn) single nucleotide variant not specified [RCV004636328] Chr9:114062688 [GRCh38]
Chr9:116824968 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.707C>T (p.Ser236Leu) single nucleotide variant not specified [RCV004941196] Chr9:114061570 [GRCh38]
Chr9:116823850 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.878G>A (p.Arg293Gln) single nucleotide variant not specified [RCV004941195] Chr9:114061074 [GRCh38]
Chr9:116823354 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001633.4(AMBP):c.755C>T (p.Thr252Ile) single nucleotide variant not specified [RCV004941197] Chr9:114061522 [GRCh38]
Chr9:116823802 [GRCh37]
Chr9:9q32		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1188
Count of miRNA genes:606
Interacting mature miRNAs:704
Transcripts:ENST00000265132, ENST00000466610, ENST00000540645, ENST00000603230
Prediction methods:Miranda, Rnahybrid, Targetscan
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
597181304GWAS1277378_Hsulfatase-modifying factor 1 measurement QTL GWAS1277378 (human)3e-69sulfatase-modifying factor 1 measurement9114069727114069728Human
597177434GWAS1273508_Hprotein measurement QTL GWAS1273508 (human)5e-25protein measurement9114064799114064800Human
597042320GWAS1138394_Hlifestyle measurement QTL GWAS1138394 (human)7e-09lifestyle measurement9114063048114063052Human
597279999GWAS1376073_H1-aminocyclopropane-1-carboxylic acid meaaurement QTL GWAS1376073 (human)3e-081-aminocyclopropane-1-carboxylic acid meaaurement9114067084114067085Human
597301244GWAS1397318_Hretinol dehydrogenase 16 measurement QTL GWAS1397318 (human)2e-12retinol dehydrogenase 16 measurement9114069727114069728Human
597180927GWAS1277001_Hzinc fingers and homeoboxes protein 3 measurement QTL GWAS1277001 (human)6e-18zinc fingers and homeoboxes protein 3 measurement9114069727114069728Human
597182399GWAS1278473_Htissue factor measurement QTL GWAS1278473 (human)2e-31blood coagulation trait (VT:0002551)9114069727114069728Human
597321458GWAS1417532_Horofacial cleft, sex interaction measurement QTL GWAS1417532 (human)0.000003orofacial cleft, sex interaction measurement9114068039114068040Human
597182193GWAS1278267_Hprotein kinase c gamma type measurement QTL GWAS1278267 (human)4e-19enzyme/coenzyme activity trait (VT:0005584)9114069727114069728Human
406971530GWAS620506_Htrait in response to paliperidone, schizophrenia symptom severity measurement QTL GWAS620506 (human)0.000008trait in response to paliperidone, schizophrenia symptom severity measurement9114075465114075466Human
597300117GWAS1396191_Hhepatocyte nuclear factor 4-alpha measurement QTL GWAS1396191 (human)1e-20hepatocyte nuclear factor 4-alpha measurement9114069727114069728Human
597322223GWAS1418297_Htissue factor measurement QTL GWAS1418297 (human)1e-13blood coagulation trait (VT:0002551)9114069727114069728Human
597170447GWAS1266521_Hcalcipressin-1 measurement QTL GWAS1266521 (human)2e-27calcipressin-1 measurement9114069727114069728Human
597170543GWAS1266617_Hprotein measurement QTL GWAS1266617 (human)5e-16protein measurement9114069727114069728Human
597320994GWAS1417068_Horofacial cleft, sex interaction measurement QTL GWAS1417068 (human)0.0000006orofacial cleft, sex interaction measurement9114068039114068040Human
597139948GWAS1236022_Hlevel of protein AMBP in blood serum QTL GWAS1236022 (human)3e-24level of protein AMBP in blood serum9114069709114069710Human
597170563GWAS1266637_Hsignaling lymphocytic activation molecule measurement QTL GWAS1266637 (human)1e-29signaling lymphocytic activation molecule measurement9114069727114069728Human
597181284GWAS1277358_Hhepatocyte nuclear factor 4-alpha measurement QTL GWAS1277358 (human)5e-153hepatocyte nuclear factor 4-alpha measurement9114069727114069728Human
597301799GWAS1397873_Hsulfatase-modifying factor 1 measurement QTL GWAS1397873 (human)3e-17B-cell lymphoma/leukemia 10 measurement9114069727114069728Human
406971548GWAS620524_Htrait in response to paliperidone, schizophrenia symptom severity measurement QTL GWAS620524 (human)0.000007trait in response to paliperidone, schizophrenia symptom severity measurement9114076463114076464Human
597182758GWAS1278832_Hsoluble calcium-activated nucleotidase 1 measurement QTL GWAS1278832 (human)4e-15soluble calcium-activated nucleotidase 1 measurement9114069727114069728Human
597182918GWAS1278992_Hmalignant T-cell-amplified sequence 1 measurement QTL GWAS1278992 (human)4e-29malignant T-cell-amplified sequence 1 measurement9114069727114069728Human

Markers in Region
STS-M88249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,822,141 - 116,822,373UniSTSGRCh37
Build 369115,861,962 - 115,862,194RGDNCBI36
Celera987,469,437 - 87,469,669RGD
Cytogenetic Map9q32-q33UniSTS
HuRef986,428,465 - 86,428,697UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
AMBP  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,823,247 - 116,823,730UniSTSGRCh37
Build 369115,863,068 - 115,863,551RGDNCBI36
Celera987,470,543 - 87,471,026RGD
HuRef986,429,571 - 86,430,054UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1014 2034 2197 1898 4477 1662 2221 608 1388 462 2040 5837 5203 28 3285 804 1650 1493 156

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY544123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB141734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265132   ⟹   ENSP00000265132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,060,127 - 114,078,300 (-)Ensembl
Ensembl Acc Id: ENST00000466610   ⟹   ENSP00000475149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,060,992 - 114,074,969 (-)Ensembl
Ensembl Acc Id: ENST00000540645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,060,910 - 114,077,608 (-)Ensembl
Ensembl Acc Id: ENST00000603230   ⟹   ENSP00000474859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,061,500 - 114,078,328 (-)Ensembl
RefSeq Acc Id: NM_001633   ⟹   NP_001624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,060,127 - 114,078,300 (-)NCBI
GRCh379116,822,407 - 116,840,752 (-)ENTREZGENE
Build 369115,862,228 - 115,880,536 (-)NCBI Archive
HuRef986,428,731 - 86,447,071 (-)ENTREZGENE
CHM1_19116,968,857 - 116,987,201 (-)NCBI
T2T-CHM13v2.09126,258,798 - 126,276,960 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001624   ⟸   NM_001633
- Peptide Label: preproprotein
- UniProtKB: Q9UC58 (UniProtKB/Swiss-Prot),   Q5TBD7 (UniProtKB/Swiss-Prot),   Q2TU33 (UniProtKB/Swiss-Prot),   P78491 (UniProtKB/Swiss-Prot),   P02759 (UniProtKB/Swiss-Prot),   P00977 (UniProtKB/Swiss-Prot),   Q9UDI8 (UniProtKB/Swiss-Prot),   P02760 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000475149   ⟸   ENST00000466610
Ensembl Acc Id: ENSP00000474859   ⟸   ENST00000603230
Ensembl Acc Id: ENSP00000265132   ⟸   ENST00000265132
Protein Domains
BPTI/Kunitz inhibitor   Lipocalin/cytosolic fatty-acid binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02760-F1-model_v2 AlphaFold P02760 1-352 view protein structure

Promoters
RGD ID:7215943
Promoter ID:EPDNEW_H13718
Type:initiation region
Name:AMBP_1
Description:alpha-1-microglobulin/bikunin precursor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13719  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,078,300 - 114,078,360EPDNEW
RGD ID:7215947
Promoter ID:EPDNEW_H13719
Type:initiation region
Name:AMBP_2
Description:alpha-1-microglobulin/bikunin precursor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,078,454 - 114,078,514EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:453 AgrOrtholog
COSMIC AMBP COSMIC
Ensembl Genes ENSG00000106927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265132 ENTREZGENE
  ENST00000265132.8 UniProtKB/Swiss-Prot
  ENST00000466610.6 UniProtKB/TrEMBL
  ENST00000603230.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106927 GTEx
HGNC ID HGNC:453 ENTREZGENE
Human Proteome Map AMBP Human Proteome Map
InterPro A1-microglobln UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calycin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prtase_inh_Kunz-CS UniProtKB/Swiss-Prot
KEGG Report hsa:259 UniProtKB/Swiss-Prot
NCBI Gene 259 ENTREZGENE
OMIM 176870 OMIM
PANTHER PROTEIN AMBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46676 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24759 PharmGKB
PRINTS A1MCGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BASICPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOCALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BPTI_KUNITZ_1 UniProtKB/Swiss-Prot
  BPTI_KUNITZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOCALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AMBP_HUMAN UniProtKB/Swiss-Prot
  P00977 ENTREZGENE
  P02759 ENTREZGENE
  P02760 ENTREZGENE
  P78491 ENTREZGENE
  Q2TU33 ENTREZGENE
  Q5TBD7 ENTREZGENE
  Q9UC58 ENTREZGENE
  Q9UDI8 ENTREZGENE
  S4R3Y4_HUMAN UniProtKB/TrEMBL
  S4R471_HUMAN UniProtKB/TrEMBL
UniProt Secondary P00977 UniProtKB/Swiss-Prot
  P02759 UniProtKB/Swiss-Prot
  P78491 UniProtKB/Swiss-Prot
  Q2TU33 UniProtKB/Swiss-Prot
  Q5TBD7 UniProtKB/Swiss-Prot
  Q9UC58 UniProtKB/Swiss-Prot
  Q9UDI8 UniProtKB/Swiss-Prot