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

Gene ID: 127, updated on 18-Sep-2024

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; AllianceGenome:HGNC:252
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
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Genomic context

See ADH4 in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99123658..99144297, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102438693..102459340, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100044809..100065448, 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 uncharacterized LOC124900739 Neighboring gene ADH4 promoter Neighboring gene 4E3 enhancer upstream of ADH4 Neighboring gene proliferating cell nuclear antigen pseudogene 1 Neighboring gene proliferating cell nuclear antigen pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD binding IDA
Inferred from Direct Assay
more info
PubMed 
enables NADPH:quinone reductase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 aldose reductase (NADPH) activity IEA
Inferred from Electronic Annotation
more info
 
enables all-trans retinal binding IDA
Inferred from Direct Assay
more info
PubMed 
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables benzaldehyde dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables retinol binding IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in alcohol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in alcohol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular aldehyde metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ethanol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in fatty acid omega-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in formaldehyde catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in quinone metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retinoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retinol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 

General protein information

Preferred Names
all-trans-retinol dehydrogenase [NAD(+)] ADH4
Names
alcohol dehydrogenase 2
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)

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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.

mRNA and Protein(s)

  1. NM_000670.5NP_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)
    AC019131, AP002026
    Consensus CDS
    CCDS34032.1
    UniProtKB/Swiss-Prot
    A8K470, B4DIE7, C9J4A9, P08319, Q8TCD7
    UniProtKB/TrEMBL
    V9HVX7
    Related
    ENSP00000265512.7, ENST00000265512.12
    Conserved Domains (1) summary
    cd08299
    Location:3380
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
  2. NM_001306171.2NP_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)
    AC019131, AP002026
    Consensus CDS
    CCDS77942.1
    UniProtKB/TrEMBL
    V9HVX7
    Related
    ENSP00000424630.1, ENST00000508393.5
    Conserved Domains (1) summary
    cd08299
    Location:25399
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
  3. NM_001306172.2NP_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)
    AC019131, AP002026
    Consensus CDS
    CCDS77942.1
    UniProtKB/TrEMBL
    V9HVX7
    Related
    ENSP00000425416.1, ENST00000505590.5
    Conserved Domains (1) summary
    cd08299
    Location:25399
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    99123658..99144297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    102438693..102459340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)