ME1 (malic enzyme 1) - Rat Genome Database

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Gene: ME1 (malic enzyme 1) Homo sapiens
Analyze
Symbol: ME1
Name: malic enzyme 1
RGD ID: 736133
HGNC Page HGNC:6983
Description: Enables several functions, including malate dehydrogenase (decarboxylating) (NADP+) activity; metal ion binding activity; and oxaloacetate decarboxylase activity. Involved in several processes, including malate metabolic process; nicotinamide nucleotide metabolic process; and protein homotetramerization. Part of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HUMNDME; malate dehydrogenase; malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+)); malic enzyme 1, NADP(+)-dependent, cytosolic; malic enzyme 1, soluble; Malic enzyme, cytoplasmic; MES; NADP-dependent malic enzyme; NADP-ME; pyruvic-malic carboxylase
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
GRCh38683,210,402 - 83,431,051 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl683,210,402 - 83,431,051 (-)EnsemblGRCh38hg38GRCh38
GRCh37683,920,121 - 84,140,770 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36683,976,827 - 84,197,498 (-)NCBINCBI36Build 36hg18NCBI36
Build 34683,977,975 - 84,197,499NCBI
Celera684,353,414 - 84,574,177 (-)NCBICelera
Cytogenetic Map6q14.2NCBI
HuRef681,148,328 - 81,370,879 (-)NCBIHuRef
CHM1_1684,017,801 - 84,238,482 (-)NCBICHM1_1
T2T-CHM13v2.0684,433,644 - 84,654,257 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(E)-cinnamyl alcohol  (EXP)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis,11-trans-octadecadienoic acid  (ISO)
Actein  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-hexylcinnamaldehyde  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
Augmentin  (EXP)
azoxystrobin  (EXP)
Bandrowski's base  (EXP)
benazepril  (ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzoic acid  (EXP)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
buspirone  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
cannabidiol  (EXP)
captan  (ISO)
carbamazepine  (EXP,ISO)
carbon nanotube  (ISO)
celastrol  (EXP)
chloroacetaldehyde  (EXP)
chloroethene  (ISO)
chlorohydrocarbon  (ISO)
cinnamyl alcohol  (EXP)
cisplatin  (EXP)
clavulanic acid  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cyclosporin A  (EXP,ISO)
daidzein  (EXP)
DDE  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (EXP,ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diethyl maleate  (ISO)
dioxygen  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
equol  (EXP)
ethanol  (ISO)
eugenol  (EXP)
felbamate  (ISO)
fenofibrate  (ISO)
fenpyroximate  (EXP)
finasteride  (ISO)
fipronil  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gedunin  (EXP)
genistein  (EXP)
glafenine  (ISO)
glutathione  (ISO)
hexadecanoic acid  (ISO)
hexane  (EXP)
hydrogen peroxide  (EXP)
hydrogen sulfide  (ISO)
hypochlorous acid  (ISO)
ibuprofen  (ISO)
ifosfamide  (EXP)
indinavir  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
isoeugenol  (EXP)
isoflavones  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ethionine  (ISO)
lamivudine  (ISO)
lead diacetate  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (EXP,ISO)
melatonin  (ISO)
menadione  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
Mesaconitine  (ISO)
metformin  (EXP,ISO)
methoxychlor  (ISO)
methyl salicylate  (EXP)
methylmercury chloride  (EXP,ISO)
methylseleninic acid  (EXP)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nelfinavir  (ISO)
nickel sulfate  (EXP)
nicotine  (ISO)
ochratoxin A  (EXP,ISO)
omeprazole  (ISO)
oxfendazole  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phytoestrogen  (EXP)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
potassium bromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
propan-2-ol  (EXP)
pyrazinecarboxamide  (ISO)
pyrimidifen  (EXP)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
rac-lactic acid  (EXP)
Rebamipide  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
saquinavir  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
stavudine  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topiramate  (ISO)
trans-isoeugenol  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin D  (EXP)
zidovudine  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (ISS,TAS)
membrane  (IEA)
mitochondrion  (IBA,ISO)
plasma membrane  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Cardiac glutaminolysis: a maladaptive cancer metabolism pathway in the right ventricle in pulmonary hypertension. Piao L, etal., J Mol Med (Berl). 2013 Oct;91(10):1185-97. doi: 10.1007/s00109-013-1064-7. Epub 2013 Jun 21.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1088824   PMID:2015102   PMID:3169368   PMID:4689040   PMID:7496989   PMID:7622060   PMID:7757881   PMID:8125298   PMID:8187880   PMID:8804575   PMID:9174159   PMID:11085912  
PMID:11352855   PMID:11358520   PMID:12121650   PMID:12477932   PMID:14574404   PMID:15489334   PMID:16344560   PMID:16757477   PMID:18029348   PMID:18660489   PMID:19293334   PMID:19416979  
PMID:19464998   PMID:20877624   PMID:21555518   PMID:21873635   PMID:22456781   PMID:22863883   PMID:23114090   PMID:23284632   PMID:23334421   PMID:25753478   PMID:26173780   PMID:26186194  
PMID:26344197   PMID:26381116   PMID:27684187   PMID:27880917   PMID:28475173   PMID:28514442   PMID:28848047   PMID:29601126   PMID:29620192   PMID:29654155   PMID:30021884   PMID:30250042  
PMID:30425310   PMID:30517763   PMID:30575818   PMID:31409639   PMID:31735643   PMID:32296183   PMID:32814769   PMID:32994395   PMID:32998265   PMID:33619771   PMID:33729478   PMID:33751897  
PMID:33961781   PMID:34547241   PMID:34745083   PMID:34965422   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35562734   PMID:35727698   PMID:35831314   PMID:35973989   PMID:36215168  
PMID:36774506   PMID:37410361   PMID:37827155  


Genomics

Comparative Map Data
ME1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38683,210,402 - 83,431,051 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl683,210,402 - 83,431,051 (-)EnsemblGRCh38hg38GRCh38
GRCh37683,920,121 - 84,140,770 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36683,976,827 - 84,197,498 (-)NCBINCBI36Build 36hg18NCBI36
Build 34683,977,975 - 84,197,499NCBI
Celera684,353,414 - 84,574,177 (-)NCBICelera
Cytogenetic Map6q14.2NCBI
HuRef681,148,328 - 81,370,879 (-)NCBIHuRef
CHM1_1684,017,801 - 84,238,482 (-)NCBICHM1_1
T2T-CHM13v2.0684,433,644 - 84,654,257 (-)NCBIT2T-CHM13v2.0
Me1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39986,463,416 - 86,577,967 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl986,463,424 - 86,578,006 (-)EnsemblGRCm39 Ensembl
GRCm38986,581,363 - 86,695,914 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl986,581,371 - 86,695,953 (-)EnsemblGRCm38mm10GRCm38
MGSCv37986,474,970 - 86,589,947 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36987,524,432 - 87,639,643 (-)NCBIMGSCv36mm8
MGSCv36986,378,094 - 86,492,941 (-)NCBIMGSCv36mm8
Celera983,658,088 - 83,772,920 (-)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map946.58NCBI
Me1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8896,429,057 - 96,540,244 (-)NCBIGRCr8
mRatBN7.2887,549,043 - 87,660,251 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl887,549,043 - 87,660,304 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx893,229,577 - 93,340,927 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0891,428,778 - 91,540,131 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0889,270,059 - 89,381,778 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0894,256,830 - 94,368,834 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl894,256,839 - 94,368,834 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0893,769,078 - 93,863,611 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4891,839,845 - 91,955,917 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1891,860,614 - 91,975,372 (-)NCBI
Celera887,151,761 - 87,246,579 (-)NCBICelera
RH 3.4 Map8999.69RGD
Cytogenetic Map8q31NCBI
Me1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541110,938,944 - 11,065,085 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541110,938,580 - 11,084,171 (-)NCBIChiLan1.0ChiLan1.0
ME1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25103,312,102 - 103,524,703 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16101,204,935 - 101,421,593 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0681,107,569 - 81,320,050 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1684,382,732 - 84,595,701 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl684,382,732 - 84,595,701 (-)Ensemblpanpan1.1panPan2
ME1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11243,623,413 - 43,793,590 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1243,624,945 - 43,828,775 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1243,436,816 - 43,632,406 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01244,390,732 - 44,586,598 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1244,390,736 - 44,586,656 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11243,730,159 - 43,925,658 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01243,679,098 - 43,858,889 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01243,840,059 - 44,036,221 (-)NCBIUU_Cfam_GSD_1.0
Me1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494678,899,805 - 79,044,563 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365107,426,347 - 7,571,553 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365107,425,983 - 7,571,090 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ME1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl182,799,684 - 82,991,085 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1182,799,878 - 82,989,895 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2193,051,393 - 93,241,425 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1p12NCBI
ME1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1137,889,211 - 8,112,793 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl137,887,984 - 8,112,533 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040184,102,580 - 184,333,948 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Me1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479911,166,398 - 11,382,662 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ME1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NM_002395.5(ME1):c.760C>T (p.Arg254Cys) single nucleotide variant Malignant melanoma [RCV000067477] Chr6:83253683 [GRCh38]
Chr6:83963402 [GRCh37]
Chr6:84020121 [NCBI36]
Chr6:6q14.2		 not provided
NM_002395.5(ME1):c.572T>C (p.Val191Ala) single nucleotide variant Malignant melanoma [RCV000067478] Chr6:83346201 [GRCh38]
Chr6:84055920 [GRCh37]
Chr6:84112639 [NCBI36]
Chr6:6q14.2		 not provided
GRCh38/hg38 6q14.1-14.2(chr6:78912019-84096427)x1 copy number loss See cases [RCV000137752] Chr6:78912019..84096427 [GRCh38]
Chr6:79621736..84806146 [GRCh37]
Chr6:79678455..84862865 [NCBI36]
Chr6:6q14.1-14.2		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion Immunodeficiency 23 [RCV000210384] Chr6:83145962..84389166 [GRCh37]
Chr6:6q14.1-14.2		 pathogenic
GRCh37/hg19 6q14.1-14.2(chr6:83753213-84004063)x3 copy number gain See cases [RCV000240438] Chr6:83753213..84004063 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84064628-84117542)x1 copy number loss not provided [RCV000488388] Chr6:84064628..84117542 [GRCh37]
Chr6:6q14.2		 likely benign
GRCh37/hg19 6q14.2(chr6:84029282-84124184)x1 copy number loss See cases [RCV000447105] Chr6:84029282..84124184 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84056520-84136451)x1 copy number loss See cases [RCV000446182] Chr6:84056520..84136451 [GRCh37]
Chr6:6q14.2		 likely benign
GRCh37/hg19 6q14.1-14.2(chr6:83788069-84228464)x3 copy number gain See cases [RCV000448401] Chr6:83788069..84228464 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 copy number loss not provided [RCV000682681] Chr6:73674612..84829774 [GRCh37]
Chr6:6q13-14.2		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_002395.6(ME1):c.1437C>T (p.Leu479=) single nucleotide variant not provided [RCV000965017] Chr6:83223772 [GRCh38]
Chr6:83933491 [GRCh37]
Chr6:6q14.2		 benign
GRCh37/hg19 6q14.1-14.2(chr6:82987696-84007694)x1 copy number loss not provided [RCV000845917] Chr6:82987696..84007694 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3 copy number gain not provided [RCV002473804] Chr6:81087736..84200632 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1 copy number loss not provided [RCV001005823] Chr6:82620262..84201117 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
NC_000006.11:g.(?_83878953)_(84567108_?)dup duplication not provided [RCV001299718] Chr6:83878953..84567108 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6q14.1-14.2(chr6:83888683-83941662) copy number gain not specified [RCV002053590] Chr6:83888683..83941662 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84029282-84124184) copy number loss not specified [RCV002053592] Chr6:84029282..84124184 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1 copy number loss not provided [RCV001829074] Chr6:83141523..88023466 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
GRCh37/hg19 6q14.1-14.2(chr6:83788069-84228464) copy number gain not specified [RCV002053589] Chr6:83788069..84228464 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
GRCh37/hg19 6q14.2(chr6:83970948-84088871)x1 copy number loss not provided [RCV002474681] Chr6:83970948..84088871 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.464G>T (p.Arg155Leu) single nucleotide variant not specified [RCV004212059] Chr6:83346309 [GRCh38]
Chr6:84056028 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.353G>A (p.Arg118Gln) single nucleotide variant not specified [RCV004085489] Chr6:83398376 [GRCh38]
Chr6:84108095 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.967C>T (p.Pro323Ser) single nucleotide variant not specified [RCV004214038] Chr6:83237776 [GRCh38]
Chr6:83947495 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1319C>T (p.Thr440Ile) single nucleotide variant not specified [RCV004247212] Chr6:83223890 [GRCh38]
Chr6:83933609 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1465G>T (p.Val489Leu) single nucleotide variant not specified [RCV004126096] Chr6:83216581 [GRCh38]
Chr6:83926300 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.294G>A (p.Met98Ile) single nucleotide variant not specified [RCV004226203] Chr6:83398435 [GRCh38]
Chr6:84108154 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.342T>G (p.Ser114Arg) single nucleotide variant not specified [RCV004215468] Chr6:83398387 [GRCh38]
Chr6:84108106 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1067A>G (p.His356Arg) single nucleotide variant not specified [RCV004071328] Chr6:83228891 [GRCh38]
Chr6:83938610 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1271C>T (p.Thr424Ile) single nucleotide variant not specified [RCV004167984] Chr6:83227339 [GRCh38]
Chr6:83937058 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1675T>C (p.Trp559Arg) single nucleotide variant not specified [RCV004237698] Chr6:83211968 [GRCh38]
Chr6:83921687 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.285G>C (p.Glu95Asp) single nucleotide variant not specified [RCV004075305] Chr6:83398444 [GRCh38]
Chr6:84108163 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1684G>A (p.Glu562Lys) single nucleotide variant not specified [RCV004280358] Chr6:83211959 [GRCh38]
Chr6:83921678 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1030C>T (p.Arg344Cys) single nucleotide variant not specified [RCV004260038] Chr6:83228928 [GRCh38]
Chr6:83938647 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1198C>T (p.Arg400Trp) single nucleotide variant not specified [RCV004261998] Chr6:83227412 [GRCh38]
Chr6:83937131 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1 copy number loss See cases [RCV003222551] Chr6:82840207..86522229 [GRCh37]
Chr6:6q14.1-14.3		 pathogenic
NM_002395.6(ME1):c.1352A>C (p.Gln451Pro) single nucleotide variant not specified [RCV004335649] Chr6:83223857 [GRCh38]
Chr6:83933576 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84011516-84062681)x1 copy number loss not provided [RCV003482925] Chr6:84011516..84062681 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.2(chr6:83982285-84276653)x3 copy number gain not specified [RCV003986660] Chr6:83982285..84276653 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.887C>T (p.Thr296Ile) single nucleotide variant not specified [RCV004421608] Chr6:83239564 [GRCh38]
Chr6:83949283 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1043C>T (p.Thr348Ile) single nucleotide variant not specified [RCV004421600] Chr6:83228915 [GRCh38]
Chr6:83938634 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.996G>C (p.Trp332Cys) single nucleotide variant not specified [RCV004421609] Chr6:83237747 [GRCh38]
Chr6:83947466 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1358A>G (p.Asn453Ser) single nucleotide variant not specified [RCV004421601] Chr6:83223851 [GRCh38]
Chr6:83933570 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1376C>G (p.Pro459Arg) single nucleotide variant not specified [RCV004421602] Chr6:83223833 [GRCh38]
Chr6:83933552 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.1649A>T (p.Asp550Val) single nucleotide variant not specified [RCV004421604] Chr6:83211994 [GRCh38]
Chr6:83921713 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.277G>A (p.Asp93Asn) single nucleotide variant not specified [RCV004421605] Chr6:83398452 [GRCh38]
Chr6:84108171 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.43G>C (p.Gly15Arg) single nucleotide variant not specified [RCV004421606] Chr6:83430912 [GRCh38]
Chr6:84140631 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.635G>A (p.Arg212Gln) single nucleotide variant not specified [RCV004421607] Chr6:83315379 [GRCh38]
Chr6:84025098 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.746A>G (p.Asn249Ser) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557794] Chr6:83253697 [GRCh38]
Chr6:83963416 [GRCh37]
Chr6:6q14.2		 likely benign
NC_000006.11:g.(?_83881756)_(84086643_?)del deletion Immunodeficiency 23 [RCV004578685] Chr6:83881756..84086643 [GRCh37]
Chr6:6q14.1-14.2		 pathogenic
NM_002395.6(ME1):c.1329T>A (p.Asn443Lys) single nucleotide variant not specified [RCV004638038] Chr6:83223880 [GRCh38]
Chr6:83933599 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_002395.6(ME1):c.10G>C (p.Glu4Gln) single nucleotide variant not specified [RCV004628684] Chr6:83430945 [GRCh38]
Chr6:84140664 [GRCh37]
Chr6:6q14.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:695
Count of miRNA genes:381
Interacting mature miRNAs:407
Transcripts:ENST00000369705, ENST00000541327, ENST00000543031
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
406997905GWAS646881_Hbirth weight QTL GWAS646881 (human)1e-08birth weightneonatal body weight (CMO:0002079)68339541783395418Human
407004694GWAS653670_Hplatelet-derived growth factor BB measurement QTL GWAS653670 (human)0.000003platelet-derived growth factor BB measurement68337947283379473Human
407149618GWAS798594_Hdocosahexaenoic acid measurement, diet measurement QTL GWAS798594 (human)0.0000005fatty acid amount (VT:0010046)food intake measurement (CMO:0000772)68324700583247006Human
1298452OSTEAR16_HOsteoarthritis QTL 16 (human)1.850.0016Joint/bone inflammationhip osteoarthritis65725907283259072Human
407149891GWAS798867_Homega-3 polyunsaturated fatty acid measurement, diet measurement QTL GWAS798867 (human)0.0000002omega-3 polyunsaturated fatty acid measurement, diet measurementfood intake measurement (CMO:0000772)68340964283409643Human
406898792GWAS547768_Hintelligence, response to cranial radiation therapy QTL GWAS547768 (human)0.000009intelligence, response to cranial radiation therapy68326540683265407Human
407165821GWAS814797_Hcortical thickness QTL GWAS814797 (human)3e-11cortical thickness68339160883391609Human
407150191GWAS799167_Homega-6:omega-3 polyunsaturated fatty acid ratio, diet measurement QTL GWAS799167 (human)0.000009milk omega-6 fatty acid amount (VT:0010323)food intake measurement (CMO:0000772)68325773583257736Human
407360748GWAS1009724_Hsmoking status measurement, pancreatic carcinoma QTL GWAS1009724 (human)0.000002smoking status measurement, pancreatic carcinoma68330208583302086Human
407005327GWAS654303_Hcolor vision disorder QTL GWAS654303 (human)0.000004color vision disorder68328910483289105Human
406913263GWAS562239_Hbipolar disorder QTL GWAS562239 (human)3e-09bipolar disorder68324355783243558Human

Markers in Region
D6S1020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37683,978,404 - 83,978,613UniSTSGRCh37
Build 36684,035,123 - 84,035,332RGDNCBI36
Celera684,411,661 - 84,411,870RGD
Cytogenetic Map6q12UniSTS
HuRef681,206,615 - 81,206,824UniSTS
Marshfield Genetic Map689.23RGD
Marshfield Genetic Map689.23UniSTS
deCODE Assembly Map692.58UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37683,946,874 - 83,947,216UniSTSGRCh37
Build 36684,003,593 - 84,003,935RGDNCBI36
Celera684,380,179 - 84,380,562RGD
Cytogenetic Map6q12UniSTS
HuRef7115,792,475 - 115,793,674UniSTS
HuRef681,175,093 - 81,175,474UniSTS
Marshfield Genetic Map690.43UniSTS
Marshfield Genetic Map690.43RGD
WI-11126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37683,920,137 - 83,920,331UniSTSGRCh37
Build 36683,976,856 - 83,977,050RGDNCBI36
Celera684,353,443 - 84,353,637RGD
Cytogenetic Map6q12UniSTS
HuRef681,148,357 - 81,148,551UniSTS
GeneMap99-GB4 RH Map6370.05UniSTS
Whitehead-RH Map6560.6UniSTS
RH74979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37684,050,637 - 84,050,865UniSTSGRCh37
Build 36684,107,356 - 84,107,584RGDNCBI36
Celera684,483,911 - 84,484,139RGD
Cytogenetic Map6q12UniSTS
HuRef681,280,565 - 81,280,793UniSTS
D6S2105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37683,920,779 - 83,920,915UniSTSGRCh37
Build 36683,977,498 - 83,977,634RGDNCBI36
Celera684,354,085 - 84,354,221RGD
Cytogenetic Map6q12UniSTS
HuRef681,148,999 - 81,149,135UniSTS
GDB:313147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37684,074,339 - 84,074,513UniSTSGRCh37
Build 36684,131,058 - 84,131,232RGDNCBI36
Celera684,507,589 - 84,507,763RGD
Cytogenetic Map6q12UniSTS
HuRef681,304,271 - 81,304,445UniSTS
WI-7362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37683,921,321 - 83,921,599UniSTSGRCh37
Build 36683,978,040 - 83,978,318RGDNCBI36
Celera684,354,628 - 84,354,906RGD
Cytogenetic Map6q12UniSTS
HuRef681,149,542 - 81,149,820UniSTS
GeneMap99-GB4 RH Map6369.41UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S1235E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37683,921,052 - 83,921,232UniSTSGRCh37
Build 36683,977,771 - 83,977,951RGDNCBI36
Celera684,354,358 - 84,354,538RGD
Cytogenetic Map6q12UniSTS
HuRef681,149,272 - 81,149,452UniSTS
GeneMap99-GB4 RH Map6370.05UniSTS


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 2432 2788 2242 4962 1721 2343 5 622 1832 463 2265 7186 6361 51 3725 1 850 1742 1611 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A38056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX376125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA520723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L34035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L34809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000369705   ⟹   ENSP00000358719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl683,210,402 - 83,431,051 (-)Ensembl
RefSeq Acc Id: NM_002395   ⟹   NP_002386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,210,402 - 83,431,051 (-)NCBI
GRCh37683,920,108 - 84,140,938 (-)ENTREZGENE
Build 36683,976,827 - 84,197,498 (-)NCBI Archive
HuRef681,148,328 - 81,370,879 (-)ENTREZGENE
CHM1_1684,017,801 - 84,238,482 (-)NCBI
T2T-CHM13v2.0684,433,644 - 84,654,257 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002386   ⟸   NM_002395
- UniProtKB: Q9H1W3 (UniProtKB/Swiss-Prot),   Q9BWX8 (UniProtKB/Swiss-Prot),   Q5VWA2 (UniProtKB/Swiss-Prot),   Q53F72 (UniProtKB/Swiss-Prot),   Q16855 (UniProtKB/Swiss-Prot),   Q16797 (UniProtKB/Swiss-Prot),   B4DZ70 (UniProtKB/Swiss-Prot),   Q9UIY4 (UniProtKB/Swiss-Prot),   P48163 (UniProtKB/Swiss-Prot),   A8K168 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000358719   ⟸   ENST00000369705
Protein Domains
Cadherin   Malic enzyme N-terminal   Malic enzyme NAD-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48163-F1-model_v2 AlphaFold P48163 1-572 view protein structure

Promoters
RGD ID:7208585
Promoter ID:EPDNEW_H10039
Type:initiation region
Name:ME1_1
Description:malic enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10040  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,431,045 - 83,431,105EPDNEW
RGD ID:7208587
Promoter ID:EPDNEW_H10040
Type:initiation region
Name:ME1_2
Description:malic enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10039  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,431,179 - 83,431,239EPDNEW
RGD ID:6804454
Promoter ID:HG_KWN:54224
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000041350
Position:
Human AssemblyChrPosition (strand)Source
Build 36684,197,411 - 84,198,292 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6983 AgrOrtholog
COSMIC ME1 COSMIC
Ensembl Genes ENSG00000065833 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369705 ENTREZGENE
  ENST00000369705.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.10380 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/TrEMBL
  Malic enzyme, N-terminal domain UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000065833 GTEx
HGNC ID HGNC:6983 ENTREZGENE
Human Proteome Map ME1 Human Proteome Map
InterPro Aminiacid_DH-like_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/TrEMBL
  Malic_enzyme_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malic_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malic_N_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malic_NAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malic_OxRdtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protocadherin/Cadherin-CA UniProtKB/TrEMBL
KEGG Report hsa:4199 UniProtKB/Swiss-Prot
NCBI Gene 4199 ENTREZGENE
OMIM 154250 OMIM
PANTHER CADHERIN-87A UniProtKB/TrEMBL
  MALIC ENZYME-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP-DEPENDENT MALIC ENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTOCADHERIN BETA-16 UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/TrEMBL
  malic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malic_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30723 PharmGKB
PIRSF PIRSF000106 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CADHERIN UniProtKB/TrEMBL
  MALOXRDTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/TrEMBL
  MALIC_ENZYMES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART malic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malic_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00112 UniProtKB/TrEMBL
Superfamily-SCOP Aminoacid dehydrogenase-like, N-terminal domain UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-fold domains UniProtKB/TrEMBL
  SSF49313 UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot
  SSF53223 UniProtKB/Swiss-Prot
UniProt A8K168 ENTREZGENE, UniProtKB/TrEMBL
  B4DZ70 ENTREZGENE
  MAOX_HUMAN UniProtKB/Swiss-Prot
  O15199_HUMAN UniProtKB/TrEMBL
  P48163 ENTREZGENE
  Q16797 ENTREZGENE
  Q16855 ENTREZGENE
  Q53F72 ENTREZGENE
  Q5VWA2 ENTREZGENE
  Q9BWX8 ENTREZGENE
  Q9H1W3 ENTREZGENE
  Q9UIY4 ENTREZGENE
UniProt Secondary B4DZ70 UniProtKB/Swiss-Prot
  Q16797 UniProtKB/Swiss-Prot
  Q16855 UniProtKB/Swiss-Prot
  Q53F72 UniProtKB/Swiss-Prot
  Q5VWA2 UniProtKB/Swiss-Prot
  Q9BWX8 UniProtKB/Swiss-Prot
  Q9H1W3 UniProtKB/Swiss-Prot
  Q9UIY4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 ME1  malic enzyme 1  ME1  malic enzyme 1, NADP(+)-dependent, cytosolic  Symbol and/or name change 5135510 APPROVED