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AKR1C1 aldo-keto reductase family 1 member C1 [ Homo sapiens (human) ]

Gene ID: 1645, updated on 26-Jul-2021

Summary

Official Symbol
AKR1C1provided by HGNC
Official Full Name
aldo-keto reductase family 1 member C1provided by HGNC
Primary source
HGNC:HGNC:384
See related
Ensembl:ENSG00000187134 MIM:600449
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
C9; DD1; DDH; DDH1; H-37; HBAB; MBAB; HAKRC; DD1/DD2; 2-ALPHA-HSD; 20-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 reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. 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
Biased expression in liver (RPKM 85.2), fat (RPKM 74.3) and 13 other tissues See more
Orthologs
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Genomic context

See AKR1C1 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 (4963415..4983283)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5005607..5025475)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr10.185 Neighboring gene Sharpr-MPRA regulatory region 2775 Neighboring gene aldo-keto reductase family 1 member C2 Neighboring gene uncharacterized LOC101928051 Neighboring gene CRISPRi-validated cis-regulatory element chr10.193

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
The genetic architecture of economic and political preferences.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8954

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
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 3beta-hydroxy-5beta-steroid dehydrogenase 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 alditol:NADP+ 1-oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
PubMed 
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables androsterone dehydrogenase (B-specific) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables androsterone dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables bile acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables bile acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables dihydrotestosterone 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables indanol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ketosteroid monooxygenase activity IDA
Inferred from Direct Assay
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 phenanthrene 9,10-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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(P)] activity IEA
Inferred from Electronic Annotation
more info
 
enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in bile acid and bile salt transport TAS
Traceable Author Statement
more info
PubMed 
involved_in bile acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cholesterol homeostasis TAS
Traceable Author Statement
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 digestion IDA
Inferred from Direct Assay
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 epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intestinal cholesterol absorption TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in progesterone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in progesterone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in prostaglandin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to organophosphorus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in retinal metabolic process IDA
Inferred from Direct Assay
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 
involved_in xenobiotic metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
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 C1
Names
20 alpha-hydroxysteroid dehydrogenase
aldo-keto reductase C
chlordecone reductase homolog HAKRC
dihydrodiol dehydrogenase 1
dihydrodiol dehydrogenase 1/2
dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase
hepatic dihydrodiol dehydrogenase
high-affinity hepatic bile acid-binding protein
indanol dehydrogenase
trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
type II 3-alpha-hydroxysteroid dehydrogenase
NP_001344.2
XP_016871280.1

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_001353.6NP_001344.2  aldo-keto reductase family 1 member C1

    See identical proteins and their annotated locations for NP_001344.2

    Status: REVIEWED

    Source sequence(s)
    AL713867, BC040210, CB119749, M86609
    Consensus CDS
    CCDS7061.1
    UniProtKB/Swiss-Prot
    Q04828
    Related
    ENSP00000370254.4, ENST00000380872.9
    Conserved Domains (1) summary
    cd19108
    Location:6308
    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
    4963415..4983283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015791.2XP_016871280.1  aldo-keto reductase family 1 member C1 isoform X1

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