ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADH1Cprovided by HGNC
Official Full Name: alcohol dehydrogenase 1C (class I), gamma polypeptideprovided by HGNC
Primary source: HGNC:HGNC:251
See related: Ensembl:ENSG00000248144 MIM:103730; AllianceGenome:HGNC:251
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADH3
Summary: This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]
Expression: Biased expression in liver (RPKM 388.0), duodenum (RPKM 230.6) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (99336497..99352746, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (102651250..102667501, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100257654..100273903, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA LINC01339 Hinders the Development of Wilms' Tumor via MiR-135b-3p/ADH1C Axis.
Title: LncRNA LINC01339 Hinders the Development of Wilms' Tumor via MiR-135b-3p/ADH1C Axis.
ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.
Title: ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.
Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast Vietnam.
Title: Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast Vietnam.
INVESTIGATION OF ALCOHOL DEHYDROGENASE (ADH3) GENE POLYMOPHISM IN PATIENTS WITH CHRONIC ALCOHOLIC PANCRATITIS IN AZERBAIJAN POPULATION.
Title: INVESTIGATION OF ALCOHOL DEHYDROGENASE (ADH3) GENE POLYMOPHISM IN PATIENTS WITH CHRONIC ALCOHOLIC PANCRATITIS IN AZERBAIJAN POPULATION.
Single Nucleotide Polymorphisms of ADH1B, ADH1C and ALDH2 Genes in 235 People Living in Thai Nguyen Province of Vietnam.
Title: Single Nucleotide Polymorphisms of ADH1B, ADH1C and ALDH2 Genes in 235 People Living in Thai Nguyen Province of Vietnam.
ADH1C Facilitates Cisplatin Resistance of Lung Adenocarcinoma Cells.
Title: ADH1C Facilitates Cisplatin Resistance of Lung Adenocarcinoma Cells.
The role of alcohol dehydrogenase 1C in regulating inflammatory responses in ulcerative colitis.
Title: The role of alcohol dehydrogenase 1C in regulating inflammatory responses in ulcerative colitis.
Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population.
Title: Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population.
Single-nucleotide polymorphism in ADH1C gene is associated with susceptibility to Multiple Head and Neck Cancers.
Title: Alcohol-metabolizing Enzymes' Gene Polymorphisms and Susceptibility to Multiple Head and Neck Cancers.
These findings indicated that ADH1C and SPP1 might be novel promising biomarkers for predicting lung adenocarcinoma prognosis.
Title: Genome-wide analysis reveals alcohol dehydrogenase 1C and secreted phosphoprotein 1 for prognostic biomarkers in lung adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (118)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alcohol dependence MedGen: C0001973 OMIM: 103780 GeneReviews: Not available	not available
Parkinson disease, late-onset MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview, Gaucher Disease	not available

EBI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481896

D4S460 (e-PCR)
- UniSTS:57204

GDB:170160 (e-PCR)
- UniSTS:154769

GDB:170161 (e-PCR)
- UniSTS:154770

GDB:187387 (e-PCR)
- UniSTS:155548

G44346 (e-PCR)
- UniSTS:95133

SHGC-35417 (e-PCR)
- UniSTS:72095

SHGC-59546 (e-PCR)
- UniSTS:71911

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alcohol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables alcohol dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in retinoic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinol metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: alcohol dehydrogenase 1C

Names: ADH, gamma subunit; alcohol dehydrogenase 3 (class I), gamma polypeptide; aldehyde reductase

NP_000660.1

EC 1.1.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011718.1 RefSeqGene

Range

5015..21264

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000669.5 → NP_000660.1 alcohol dehydrogenase 1C

See identical proteins and their annotated locations for NP_000660.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

BC074786, CD014078, DA562068

Consensus CDS

CCDS54780.1

UniProtKB/Swiss-Prot

P00326, Q4PJ18, Q5WRV0, Q6LBW4, Q6NWV0, Q6NZA7

UniProtKB/TrEMBL

E9PCG0, F5HB16

Related

ENSP00000426083.1, ENST00000515683.6

Conserved Domains (1) summary

cd08299
Location:3 → 375

alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RNA

NR_133005.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC097530, CD014078