ADH1C (alcohol dehydrogenase 1C (class I), gamma polypeptide) - Rat Genome Database

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Gene: ADH1C (alcohol dehydrogenase 1C (class I), gamma polypeptide) Homo sapiens
Analyze
Symbol: ADH1C
Name: alcohol dehydrogenase 1C (class I), gamma polypeptide
RGD ID: 1344246
HGNC Page HGNC:251
Description: Enables alcohol dehydrogenase (NAD+) activity. Involved in ethanol oxidation. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in alcohol dependence; late onset Parkinson's disease; and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADH, gamma subunit; ADH3; alcohol dehydrogenase 1C; alcohol dehydrogenase 3 (class I), gamma polypeptide; alcohol dehydrogenase subunit gamma; aldehyde reductase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38499,336,497 - 99,352,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl499,336,497 - 99,352,746 (-)EnsemblGRCh38hg38GRCh38
GRCh374100,257,654 - 100,273,903 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364100,476,672 - 100,492,940 (-)NCBINCBI36Build 36hg18NCBI36
Build 344100,614,828 - 100,631,081NCBI
Celera497,554,804 - 97,571,075 (-)NCBICelera
Cytogenetic Map4q23NCBI
HuRef495,995,418 - 96,011,667 (-)NCBIHuRef
CHM1_14100,234,034 - 100,250,392 (-)NCBICHM1_1
T2T-CHM13v2.04102,651,250 - 102,667,501 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4'-hydroxyacetophenone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetone  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allyl alcohol  (ISO)
alpha-hexachlorocyclohexane  (ISO)
amitrole  (ISO)
Aroclor 1254  (ISO)
atazanavir sulfate  (EXP)
benzalkonium chloride  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bosentan  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carnosic acid  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlordecone  (ISO)
cimetidine  (EXP)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crotonaldehyde  (ISO)
cyanamide  (ISO)
cyclosporin A  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl disulfide  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl malate  (ISO)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
disulfiram  (ISO)
endosulfan  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethylene glycol  (EXP)
fenofibrate  (EXP)
fenthion  (ISO)
fluconazole  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
fomepizole  (EXP,ISO)
formaldehyde  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hydrogen peroxide  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
irinotecan  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
methamphetamine  (ISO)
methanol  (EXP)
methimazole  (ISO)
mifepristone  (ISO)
milrinone  (ISO)
Monobutylphthalate  (ISO)
Muconic dialdehyde  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (EXP)
nickel atom  (ISO)
nitrofen  (ISO)
obeticholic acid  (EXP)
ochratoxin A  (ISO)
oleanolic acid  (ISO)
omeprazole  (EXP)
ouabain  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propan-2-ol  (EXP,ISO)
propanal  (EXP)
raloxifene  (ISO)
rifampicin  (EXP)
rotenone  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
senecionine  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
Sunset Yellow FCF  (EXP)
tamoxifen  (ISO)
taraxerone  (ISO)
tartrazine  (EXP)
tauroursodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Impact of alcohol consumption with polymorphisms in alcohol-metabolizing enzymes on pancreatic cancer risk in Japanese. Kanda J, etal., Cancer Sci. 2008 Dec 4.
3. Interactions of alcohol dehydrogenase to p-hydroxyacetophenone-sepharose and p-acetamidophenol-sepharose. Negoro M and Wakabayashi I, Alcohol Clin Exp Res. 2005 Dec;29(12 Suppl):304S-8S.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG 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. Ethanol concentration-dependent alterations in gene expression during acute binge drinking in the HIV-1 transgenic rat. Sarkar S and Chang SL, Alcohol Clin Exp Res. 2013 Jul;37(7):1082-90. doi: 10.1111/acer.12077. Epub 2013 Feb 15.
9. Prospective evaluation of the alcohol dehydrogenase gamma1/gamma2 gene polymorphism and risk of stroke. Zee RY, etal., Stroke. 2004 Feb;35(2):e39-42. Epub 2004 Jan 15.
Additional References at PubMed
PMID:9982   PMID:1524834   PMID:1896463   PMID:2169444   PMID:2347582   PMID:2737681   PMID:2935875   PMID:3006456   PMID:3397059   PMID:3758060   PMID:6391921   PMID:6391957  
PMID:7771649   PMID:8201622   PMID:10405330   PMID:10424757   PMID:11045794   PMID:11051375   PMID:11159741   PMID:11207350   PMID:11274460   PMID:11303599   PMID:11696658   PMID:11700261  
PMID:11740346   PMID:11748356   PMID:11752857   PMID:11802217   PMID:11966948   PMID:12173598   PMID:12376487   PMID:12477932   PMID:12500098   PMID:12505800   PMID:12517056   PMID:12554615  
PMID:12631283   PMID:12658118   PMID:12668919   PMID:12710951   PMID:12713190   PMID:12750236   PMID:12782305   PMID:12884000   PMID:12915519   PMID:14608084   PMID:14634838   PMID:14691069  
PMID:14693654   PMID:14732773   PMID:14745297   PMID:15028279   PMID:15138216   PMID:15220553   PMID:15318112   PMID:15327835   PMID:15370874   PMID:15375565   PMID:15489334   PMID:15511718  
PMID:15519646   PMID:15642852   PMID:15643610   PMID:15654505   PMID:15734975   PMID:15767341   PMID:15842377   PMID:15863807   PMID:15897724   PMID:15902904   PMID:15910847   PMID:15941567  
PMID:16018848   PMID:16039674   PMID:16051248   PMID:16086315   PMID:16117582   PMID:16132793   PMID:16184481   PMID:16239350   PMID:16287084   PMID:16344274   PMID:16344560   PMID:16415175  
PMID:16440362   PMID:16600530   PMID:16675441   PMID:16685648   PMID:16712791   PMID:16737450   PMID:16758956   PMID:16801984   PMID:16930209   PMID:17018785   PMID:17071628   PMID:17134660  
PMID:17185388   PMID:17268812   PMID:17285601   PMID:17295732   PMID:17379229   PMID:17421009   PMID:17449906   PMID:17454860   PMID:17517051   PMID:17543846   PMID:17559142   PMID:17563066  
PMID:17629074   PMID:17631643   PMID:17665311   PMID:17885622   PMID:17923853   PMID:18043297   PMID:18254707   PMID:18266839   PMID:18268116   PMID:18331377   PMID:18510611   PMID:18676680  
PMID:18761854   PMID:18773092   PMID:18818748   PMID:18846501   PMID:18936436   PMID:18996923   PMID:19019335   PMID:19038239   PMID:19120062   PMID:19124506   PMID:19170196   PMID:19189524  
PMID:19193628   PMID:19339270   PMID:19343046   PMID:19447389   PMID:19486361   PMID:19527514   PMID:19550411   PMID:19581569   PMID:19618839   PMID:19625176   PMID:19692168   PMID:19812523  
PMID:19861527   PMID:19874574   PMID:19887496   PMID:19898482   PMID:19913121   PMID:19948975   PMID:20031627   PMID:20101753   PMID:20171022   PMID:20180013   PMID:20205700   PMID:20301402  
PMID:20301446   PMID:20350778   PMID:20357489   PMID:20401433   PMID:20437058   PMID:20437850   PMID:20448861   PMID:20453000   PMID:20477767   PMID:20494945   PMID:20568895   PMID:20615890  
PMID:20628086   PMID:20634891   PMID:20700531   PMID:20810466   PMID:21163612   PMID:21303386   PMID:21437268   PMID:21482329   PMID:21705789   PMID:21873635   PMID:21917409   PMID:22004471  
PMID:22048268   PMID:22279680   PMID:22325912   PMID:22353233   PMID:22363810   PMID:22414625   PMID:22476623   PMID:22675424   PMID:22930414   PMID:22931071   PMID:23321361   PMID:23404349  
PMID:23456092   PMID:23468174   PMID:23516558   PMID:23895337   PMID:24217933   PMID:24599561   PMID:24722735   PMID:24735490   PMID:25208201   PMID:25311581   PMID:25372623   PMID:25503943  
PMID:25524923   PMID:25874489   PMID:26042511   PMID:26186194   PMID:26634490   PMID:26835836   PMID:26848198   PMID:26937962   PMID:27071860   PMID:27239845   PMID:28239076   PMID:28514442  
PMID:29058369   PMID:29390059   PMID:29438797   PMID:30052783   PMID:30653870   PMID:30834931   PMID:30842089   PMID:31074035   PMID:31980649   PMID:32107439   PMID:33961781   PMID:34293286  
PMID:35612423   PMID:36580007   PMID:36701787   PMID:37378938   PMID:37510297   PMID:37890508  


Genomics

Comparative Map Data
ADH1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38499,336,497 - 99,352,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl499,336,497 - 99,352,746 (-)EnsemblGRCh38hg38GRCh38
GRCh374100,257,654 - 100,273,903 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364100,476,672 - 100,492,940 (-)NCBINCBI36Build 36hg18NCBI36
Build 344100,614,828 - 100,631,081NCBI
Celera497,554,804 - 97,571,075 (-)NCBICelera
Cytogenetic Map4q23NCBI
HuRef495,995,418 - 96,011,667 (-)NCBIHuRef
CHM1_14100,234,034 - 100,250,392 (-)NCBICHM1_1
T2T-CHM13v2.04102,651,250 - 102,667,501 (-)NCBIT2T-CHM13v2.0
Adh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393137,983,346 - 137,996,459 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3137,966,752 - 137,996,459 (+)EnsemblGRCm39 Ensembl
GRCm383138,277,585 - 138,290,698 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3138,260,991 - 138,290,698 (+)EnsemblGRCm38mm10GRCm38
MGSCv373137,940,609 - 137,953,655 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363138,215,032 - 138,228,078 (+)NCBIMGSCv36mm8
Celera3144,684,702 - 144,697,775 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map364.16NCBI
Adh1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82229,470,703 - 229,482,291 (+)NCBIGRCr8
mRatBN7.22226,797,303 - 226,808,892 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2226,797,303 - 226,808,892 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2234,543,562 - 234,555,115 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02232,443,298 - 232,454,851 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02227,307,972 - 227,319,527 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02243,550,655 - 243,562,243 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2243,550,627 - 243,687,857 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02262,090,818 - 262,102,977 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42235,799,396 - 235,811,584 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12235,786,135 - 235,797,838 (+)NCBI
Celera2218,954,198 - 218,965,645 (+)NCBICelera
Cytogenetic Map2q44NCBI
Adh1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554968,136,279 - 8,149,496 (+)NCBIChiLan1.0ChiLan1.0
LOC100970753
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2397,415,305 - 97,432,225 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1497,698,981 - 97,715,496 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0491,756,817 - 91,773,056 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14102,418,515 - 102,435,079 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4102,388,575 - 102,435,079 (-)Ensemblpanpan1.1panPan2
ADH1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8121,020,910 - 121,108,190 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18121,089,355 - 121,105,010 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28130,231,025 - 130,242,325 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in ADH1C
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000669.5(ADH1C):c.815G>A (p.Arg272Gln) single nucleotide variant Alcohol dependence [RCV000019810] Chr4:99342808 [GRCh38]
Chr4:100263965 [GRCh37]
Chr4:4q23
protective
NM_000669.5(ADH1C):c.1048A>G (p.Ile350Val) single nucleotide variant Alcohol dependence [RCV000019811] Chr4:99339632 [GRCh38]
Chr4:100260789 [GRCh37]
Chr4:4q23
protective
NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter) single nucleotide variant Parkinson disease, mitochondrial [RCV000019812] Chr4:99347033 [GRCh38]
Chr4:100268190 [GRCh37]
Chr4:4q23
risk factor
GRCh38/hg38 4q23(chr4:97972342-100038125)x3 copy number gain See cases [RCV000051632] Chr4:97972342..100038125 [GRCh38]
Chr4:98893493..100959282 [GRCh37]
Chr4:99112516..101178305 [NCBI36]
Chr4:4q23
uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24
pathogenic
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24
pathogenic
NM_000669.5(ADH1C):c.232= (p.Gly78=) single nucleotide variant not specified [RCV000454760] Chr4:99347033 [GRCh38]
Chr4:100268190 [GRCh37]
Chr4:4q23
benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 copy number loss See cases [RCV000511194] Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000669.5(ADH1C):c.1054C>A (p.Pro352Thr) single nucleotide variant not provided [RCV000959584] Chr4:99339626 [GRCh38]
Chr4:100260783 [GRCh37]
Chr4:4q23
benign
NM_000669.5(ADH1C):c.429C>T (p.Gly143=) single nucleotide variant not provided [RCV000888791] Chr4:99345000 [GRCh38]
Chr4:100266157 [GRCh37]
Chr4:4q23
benign|likely benign
NM_000669.5(ADH1C):c.143G>A (p.Arg48His) single nucleotide variant not provided [RCV000881194] Chr4:99347122 [GRCh38]
Chr4:100268279 [GRCh37]
Chr4:4q23
benign
GRCh37/hg19 4q23(chr4:100239111-100509321)x3 copy number gain not provided [RCV000847681] Chr4:100239111..100509321 [GRCh37]
Chr4:4q23
uncertain significance
GRCh37/hg19 4q23(chr4:100224894-100482676)x3 copy number gain not provided [RCV000849380] Chr4:100224894..100482676 [GRCh37]
Chr4:4q23
uncertain significance
GRCh37/hg19 4q23(chr4:100224894-100482676)x3 copy number gain not provided [RCV000849382] Chr4:100224894..100482676 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.423C>T (p.Phe141=) single nucleotide variant not provided [RCV000905860] Chr4:99345006 [GRCh38]
Chr4:100266163 [GRCh37]
Chr4:4q23
likely benign
NM_000669.5(ADH1C):c.522C>T (p.Gly174=) single nucleotide variant not provided [RCV000956915] Chr4:99344907 [GRCh38]
Chr4:100266064 [GRCh37]
Chr4:4q23
benign|likely benign
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 copy number loss not provided [RCV001259285] Chr4:94692345..101308220 [GRCh37]
Chr4:4q22.2-24
likely pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25
likely pathogenic
NC_000004.11:g.(?_100239320)_(100544005_?)dup duplication not provided [RCV002018710] Chr4:100239320..100544005 [GRCh37]
Chr4:4q23
uncertain significance
NC_000004.11:g.(?_100239320)_(100528137_?)del deletion not provided [RCV003113682] Chr4:100239320..100528137 [GRCh37]
Chr4:4q23
pathogenic
NM_000669.5(ADH1C):c.883G>C (p.Val295Leu) single nucleotide variant Inborn genetic diseases [RCV002818226] Chr4:99340656 [GRCh38]
Chr4:100261813 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.359C>G (p.Pro120Arg) single nucleotide variant Inborn genetic diseases [RCV002950148] Chr4:99345070 [GRCh38]
Chr4:100266227 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.371T>C (p.Leu124Pro) single nucleotide variant Inborn genetic diseases [RCV002930238] Chr4:99345058 [GRCh38]
Chr4:100266215 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.50A>C (p.Glu17Ala) single nucleotide variant Inborn genetic diseases [RCV002874180] Chr4:99347815 [GRCh38]
Chr4:100268972 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.155A>T (p.His52Leu) single nucleotide variant Inborn genetic diseases [RCV002939417] Chr4:99347110 [GRCh38]
Chr4:100268267 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.874A>T (p.Ile292Phe) single nucleotide variant Inborn genetic diseases [RCV002809218] Chr4:99340665 [GRCh38]
Chr4:100261822 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.556A>G (p.Lys186Glu) single nucleotide variant Inborn genetic diseases [RCV002835915] Chr4:99344873 [GRCh38]
Chr4:100266030 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.938G>A (p.Arg313His) single nucleotide variant Inborn genetic diseases [RCV002652784] Chr4:99340601 [GRCh38]
Chr4:100261758 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.623T>C (p.Val208Ala) single nucleotide variant Inborn genetic diseases [RCV002677697] Chr4:99343000 [GRCh38]
Chr4:100264157 [GRCh37]
Chr4:4q23
likely benign
NM_000669.5(ADH1C):c.839T>G (p.Leu280Arg) single nucleotide variant Inborn genetic diseases [RCV003204424] Chr4:99340700 [GRCh38]
Chr4:100261857 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.491C>T (p.Ala164Val) single nucleotide variant Inborn genetic diseases [RCV003204636] Chr4:99344938 [GRCh38]
Chr4:100266095 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.191T>C (p.Val64Ala) single nucleotide variant Inborn genetic diseases [RCV003189090] Chr4:99347074 [GRCh38]
Chr4:100268231 [GRCh37]
Chr4:4q23
likely benign
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23
pathogenic
NM_000669.5(ADH1C):c.217A>G (p.Ile73Val) single nucleotide variant Inborn genetic diseases [RCV003350943] Chr4:99347048 [GRCh38]
Chr4:100268205 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.678C>T (p.Asn226=) single nucleotide variant not provided [RCV003435111] Chr4:99342945 [GRCh38]
Chr4:100264102 [GRCh37]
Chr4:4q23
benign
NM_000669.5(ADH1C):c.1113C>T (p.Thr371=) single nucleotide variant not provided [RCV003435109] Chr4:99336767 [GRCh38]
Chr4:100257924 [GRCh37]
Chr4:4q23
likely benign
NM_000669.5(ADH1C):c.1066A>G (p.Ile356Val) single nucleotide variant Parkinson disease, late-onset [RCV003447859] Chr4:99339614 [GRCh38]
Chr4:100260771 [GRCh37]
Chr4:4q23
uncertain significance
NM_000669.5(ADH1C):c.828+7T>A single nucleotide variant not provided [RCV003439424] Chr4:99342788 [GRCh38]
Chr4:100263945 [GRCh37]
Chr4:4q23
likely benign
NM_000669.5(ADH1C):c.828+6A>T single nucleotide variant not provided [RCV003435110] Chr4:99342789 [GRCh38]
Chr4:100263946 [GRCh37]
Chr4:4q23
likely benign
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1 copy number loss not specified [RCV003986486] Chr4:99355670..107274288 [GRCh37]
Chr4:4q23-24
pathogenic
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1 copy number loss not specified [RCV003986501] Chr4:100172302..107880077 [GRCh37]
Chr4:4q23-25
pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:365
Count of miRNA genes:299
Interacting mature miRNAs:316
Transcripts:ENST00000505942, ENST00000510055, ENST00000511397, ENST00000515683
Prediction methods: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.

Markers in Region
SHGC-59546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,237,080 - 100,237,281UniSTSGRCh37
GRCh374100,266,044 - 100,266,245UniSTSGRCh37
Build 364100,456,103 - 100,456,304RGDNCBI36
Celera497,534,256 - 97,534,457RGD
Celera497,563,195 - 97,563,396UniSTS
Cytogenetic Map4q23UniSTS
HuRef495,974,881 - 95,975,082UniSTS
HuRef496,003,791 - 96,003,992UniSTS
GeneMap99-GB4 RH Map4490.5UniSTS
NCBI RH Map41160.8UniSTS
GDB:170160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,260,732 - 100,260,871UniSTSGRCh37
Build 364100,479,755 - 100,479,894RGDNCBI36
Celera497,557,884 - 97,558,023RGD
Cytogenetic Map4q23UniSTS
HuRef495,998,480 - 95,998,619UniSTS
GDB:170161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,239,275 - 100,239,381UniSTSGRCh37
GRCh374100,268,235 - 100,268,342UniSTSGRCh37
Build 364100,458,298 - 100,458,404RGDNCBI36
Celera497,565,386 - 97,565,493UniSTS
Celera497,536,451 - 97,536,557RGD
Cytogenetic Map4q23UniSTS
HuRef496,005,981 - 96,006,088UniSTS
HuRef495,977,077 - 95,977,183UniSTS
D4S460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,264,343 - 100,264,519UniSTSGRCh37
Build 364100,483,366 - 100,483,542RGDNCBI36
Celera497,561,494 - 97,561,670RGD
Cytogenetic Map4q23UniSTS
HuRef496,002,090 - 96,002,266UniSTS
TNG Radiation Hybrid Map460627.0UniSTS
G44346  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q23UniSTS
GDB:187387  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q23UniSTS
SHGC-35417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,228,775 - 100,228,984UniSTSGRCh37
GRCh374100,257,685 - 100,257,897UniSTSGRCh37
Celera497,525,951 - 97,526,160UniSTS
Celera497,554,840 - 97,555,052UniSTS
Cytogenetic Map4q23UniSTS
HuRef495,966,576 - 95,966,785UniSTS
HuRef495,995,454 - 95,995,666UniSTS
TNG Radiation Hybrid Map460727.0UniSTS
GeneMap99-GB4 RH Map4494.02UniSTS
Whitehead-RH Map4533.9UniSTS
NCBI RH Map41143.3UniSTS
GeneMap99-G3 RH Map45537.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4 79 79 79
Medium 1228 195 409 449 196 329 1559 711 618 109 258 180 122 892 1146
Low 1122 2178 1038 74 436 34 2035 1390 346 171 1022 1186 43 1 312 1382 2
Below cutoff 44 447 175 16 797 17 551 62 2133 108 107 141 4 259 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_133005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC097530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB114902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D11067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA562068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ088981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M37068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000505942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,344,888 - 99,352,744 (-)Ensembl
RefSeq Acc Id: ENST00000510055   ⟹   ENSP00000478439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,342,926 - 99,352,730 (-)Ensembl
RefSeq Acc Id: ENST00000511397   ⟹   ENSP00000478545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,343,011 - 99,352,746 (-)Ensembl
RefSeq Acc Id: ENST00000515683   ⟹   ENSP00000426083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,336,497 - 99,352,746 (-)Ensembl
RefSeq Acc Id: NM_000669   ⟹   NP_000660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,336,497 - 99,352,746 (-)NCBI
GRCh374100,257,649 - 100,273,917 (-)ENTREZGENE
Build 364100,476,672 - 100,492,940 (-)NCBI Archive
HuRef495,995,418 - 96,011,667 (-)ENTREZGENE
CHM1_14100,234,034 - 100,250,677 (-)NCBI
T2T-CHM13v2.04102,651,250 - 102,667,501 (-)NCBI
Sequence:
RefSeq Acc Id: NR_133005
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,336,497 - 99,352,746 (-)NCBI
CHM1_14100,234,034 - 100,250,677 (-)NCBI
T2T-CHM13v2.04102,651,250 - 102,667,501 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000660   ⟸   NM_000669
- UniProtKB: Q6NWV0 (UniProtKB/Swiss-Prot),   Q6LBW4 (UniProtKB/Swiss-Prot),   Q5WRV0 (UniProtKB/Swiss-Prot),   Q4PJ18 (UniProtKB/Swiss-Prot),   Q6NZA7 (UniProtKB/Swiss-Prot),   P00326 (UniProtKB/Swiss-Prot),   E9PCG0 (UniProtKB/TrEMBL),   F5HB16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000478439   ⟸   ENST00000510055
RefSeq Acc Id: ENSP00000478545   ⟸   ENST00000511397
RefSeq Acc Id: ENSP00000426083   ⟸   ENST00000515683
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00326-F1-model_v2 AlphaFold P00326 1-375 view protein structure

Promoters
RGD ID:6868096
Promoter ID:EPDNEW_H7213
Type:multiple initiation site
Name:ADH1C_1
Description:alcohol dehydrogenase 1C , gamma polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,352,746 - 99,352,806EPDNEW
RGD ID:6850504
Promoter ID:EP73043
Type:multiple initiation site
Name:HS_ADH1C
Description:Alcohol dehydrogenase 1C (class I), gamma polypeptide.
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 364100,492,926 - 100,492,986EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:251 AgrOrtholog
COSMIC ADH1C COSMIC
Ensembl Genes ENSG00000248144 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000510055.5 UniProtKB/TrEMBL
  ENST00000511397.3 UniProtKB/TrEMBL
  ENST00000515683 ENTREZGENE
  ENST00000515683.6 UniProtKB/Swiss-Prot
Gene3D-CATH Medium-chain alcohol dehydrogenases, catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000248144 GTEx
HGNC ID HGNC:251 ENTREZGENE
Human Proteome Map ADH1C Human Proteome Map
InterPro ADH-like_C UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_Zn_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroES-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKS_ER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:126 UniProtKB/Swiss-Prot
NCBI Gene 126 ENTREZGENE
OMIM 103730 OMIM
PANTHER ALCOHOL DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALCOHOL DEHYDROGENASE 1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALL-TRANS-RETINOL DEHYDROGENASE [NAD(+)] ADH1B UniProtKB/TrEMBL
Pfam ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_zinc_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADH1C RGD, PharmGKB
PROSITE ADH_ZINC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PKS_ER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WU81_HUMAN UniProtKB/TrEMBL
  A0A087WUC4_HUMAN UniProtKB/TrEMBL
  ADH1G_HUMAN UniProtKB/Swiss-Prot
  E9PCG0 ENTREZGENE
  F5HB16 ENTREZGENE, UniProtKB/TrEMBL
  P00326 ENTREZGENE
  Q4PJ18 ENTREZGENE
  Q5WRV0 ENTREZGENE
  Q6LBW4 ENTREZGENE
  Q6NWV0 ENTREZGENE
  Q6NZA7 ENTREZGENE
UniProt Secondary E9PCG0 UniProtKB/TrEMBL
  Q4PJ18 UniProtKB/Swiss-Prot
  Q5WRV0 UniProtKB/Swiss-Prot
  Q6LBW4 UniProtKB/Swiss-Prot
  Q6NWV0 UniProtKB/Swiss-Prot
  Q6NZA7 UniProtKB/Swiss-Prot