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ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide [ Homo sapiens (human) ]

Gene ID: 127, updated on 10-Oct-2019

Summary

Official Symbol
ADH4provided by HGNC
Official Full Name
alcohol dehydrogenase 4 (class II), pi polypeptideprovided by HGNC
Primary source
HGNC:HGNC:252
See related
Ensembl:ENSG00000198099 MIM:103740
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
ADH-2; HEL-S-4
Summary
This gene encodes class II alcohol dehydrogenase 4 pi 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 II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward liver (RPKM 940.8) See more
Orthologs

Genomic context

See ADH4 in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99123657..99144298, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100044832..100065449, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ADH5 promoter Neighboring gene uncharacterized LOC100507053 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide Neighboring gene Sharpr-MPRA regulatory region 12553 Neighboring gene ADH4 promoter Neighboring gene 4E3 enhancer upstream of ADH4 Neighboring gene proliferating cell nuclear antigen pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.
NHGRI GWA Catalog
Genetic determinants influencing human serum metabolome among African Americans.
NHGRI GWA Catalog
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IDA
Inferred from Direct Assay
more info
PubMed 
NADPH:quinone reductase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
S-(hydroxymethyl)glutathione dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alcohol dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
alcohol dehydrogenase activity, zinc-dependent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alcohol dehydrogenase activity, zinc-dependent IDA
Inferred from Direct Assay
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
all-trans retinal binding IDA
Inferred from Direct Assay
more info
PubMed 
benzaldehyde dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
ethanol binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
retinol binding IDA
Inferred from Direct Assay
more info
PubMed 
retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
alcohol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
alcohol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular aldehyde metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ethanol oxidation IDA
Inferred from Direct Assay
more info
PubMed 
ethanol oxidation TAS
Traceable Author Statement
more info
 
fatty acid omega-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
formaldehyde catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
quinone metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
all-trans-retinol dehydrogenase [NAD(+)] ADH4
Names
alcohol dehydrogenase class II pi chain
aldehyde reductase
epididymis secretory protein Li 4
NP_000661.2
NP_001293100.1
NP_001293101.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_000670.4NP_000661.2  all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform 2

    See identical proteins and their annotated locations for NP_000661.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the 5' coding region, which results in use of an alternate start codon compared to variant 1. It encodes isoform 2, which is shorter than and has a novel N-terminus compared to isoform 1.
    Source sequence(s)
    AK290835, AK295556, AV658711, AV659364, BC022319, EU668317, M15943
    Consensus CDS
    CCDS34032.1
    UniProtKB/Swiss-Prot
    P08319
    UniProtKB/TrEMBL
    V9HVX7
    Related
    ENSP00000265512.7, ENST00000265512.11
    Conserved Domains (2) summary
    cd08299
    Location:3380
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
    COG1062
    Location:8380
    FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]
  2. NM_001306171.1NP_001293100.1  all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform 1

    See identical proteins and their annotated locations for NP_001293100.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode isoform 1.
    Source sequence(s)
    AK290835, AK295556, AV658711, AV659353, EU668317
    Consensus CDS
    CCDS77942.1
    UniProtKB/Swiss-Prot
    P08319
    UniProtKB/TrEMBL
    V9HVX7
    Related
    ENSP00000424630.1, ENST00000508393.5
    Conserved Domains (2) summary
    cd08299
    Location:25399
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
    COG1062
    Location:27399
    FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]
  3. NM_001306172.1NP_001293101.1  all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform 1

    See identical proteins and their annotated locations for NP_001293101.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode isoform 1.
    Source sequence(s)
    AK290835, AK295556, AV658711, AV659353, CD014080, EU668317
    Consensus CDS
    CCDS77942.1
    UniProtKB/Swiss-Prot
    P08319
    UniProtKB/TrEMBL
    V9HVX7
    Related
    ENSP00000425416.1, ENST00000505590.5
    Conserved Domains (2) summary
    cd08299
    Location:25399
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
    COG1062
    Location:27399
    FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99123657..99144298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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