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AKR1C4 aldo-keto reductase family 1, member C4 [ Homo sapiens (human) ]

Gene ID: 1109, updated on 8-May-2016
Official Symbol
AKR1C4provided by HGNC
Official Full Name
aldo-keto reductase family 1, member C4provided by HGNC
Primary source
HGNC:HGNC:387
See related
Ensembl:ENSG00000198610 HPRD:07040; MIM:600451; Vega:OTTHUMG00000017591
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
C11; CDR; DD4; CHDR; DD-4; HAKRA; 3-alpha-HSD
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
Orthologs
Location:
10p15.1
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (5196809..5220633)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5238798..5260910)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376377 Neighboring gene aldo-keto reductase family 1, member C8, pseudogene Neighboring gene aldo-keto reductase family 1, member C7, pseudogene Neighboring gene ribosomal protein L26 pseudogene 28

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
46,XY sex reversal 8
MedGen: C1839840 OMIM: 614279 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC22581

Gene Ontology Provided by GOA

Process Evidence Code Pubs
androgen metabolic process TAS
Traceable Author Statement
more info
PubMed 
bile acid and bile salt transport TAS
Traceable Author Statement
more info
PubMed 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
aldo-keto reductase family 1 member C4
Names
3-alpha-HSD1
chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
dihydrodiol dehydrogenase isozyme DD4
type I 3-alpha-hydroxysteroid dehydrogenase
NP_001809.3

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

  1. NG_031872.1 RefSeqGene

    Range
    5001..27113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001818.3NP_001809.3  aldo-keto reductase family 1 member C4

    See identical proteins and their annotated locations for NP_001809.3

    Status: REVIEWED

    Source sequence(s)
    BC020744, D26125
    Consensus CDS
    CCDS7064.1
    UniProtKB/Swiss-Prot
    P17516
    Related
    ENSP00000263126, ENST00000263126
    Conserved Domains (2) summary
    cd06660
    Location:11299
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    COG0667
    Location:17297
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    5196809..5220633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519303.1XP_011517605.1  

    Conserved Domains (2) summary
    cd06660
    Location:11314
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    COG0667
    Location:17312
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    5239346..5261331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)