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

Gene ID: 1109, updated on 8-Jul-2021

Summary

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 MIM:600451
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]
Expression
Restricted expression toward liver (RPKM 165.8) See more
Orthologs
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Genomic context

See AKR1C4 in Genome Data Viewer
Location:
10p15.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (5196837..5218949)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5238800..5260912)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene Sharpr-MPRA regulatory region 1972 Neighboring gene aldo-keto reductase family 1 member C8, pseudogene Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 2561 Neighboring gene Sharpr-MPRA regulatory region 4527 Neighboring gene aldo-keto reductase family 1 member C7, pseudogene

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

Associated conditions

Description Tests
46,XY sex reversal 8
MedGen: C1839840 OMIM: 614279 GeneReviews: Not available
not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22581

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
 
enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
 
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables D-threo-aldose 1-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables alditol:NADP+ 1-oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
 
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables androsterone dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables androsterone dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables bile acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables bile acid transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
enables chlordecone reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables dihydrotestosterone 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
enables ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
enables retinal dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables testosterone 17-beta-dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
 
enables testosterone dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in androgen metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in bile acid and bile salt transport TAS
Traceable Author Statement
more info
PubMed 
involved_in bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in daunorubicin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in doxorubicin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
 
involved_in progesterone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in prostaglandin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retinoid metabolic process TAS
Traceable Author Statement
more info
 
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 

General protein information

Preferred Names
aldo-keto reductase family 1 member C4
Names
3-alpha-HSD1
3alpha-hydroxysteroid 3-dehydrogenase
chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
dihydrodiol dehydrogenase isozyme DD4
type I 3-alpha-hydroxysteroid dehydrogenase
NP_001809.4

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

  1. NG_031872.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001818.5NP_001809.4  aldo-keto reductase family 1 member C4

    Status: REVIEWED

    Source sequence(s)
    AL355303
    Consensus CDS
    CCDS7064.1
    Related
    ENSP00000263126.1, ENST00000263126.3
    Conserved Domains (1) summary
    cd19108
    Location:6306
    AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    5196837..5218949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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