Format

Send to:

Choose Destination

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

Gene ID: 1645, updated on 11-Sep-2019

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

Genomic context

See AKR1C1 in Genome Data Viewer
Location:
10p15.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (4963415..4983283)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5005454..5020158)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member E2 Neighboring gene aldo-keto reductase family 1 member C6, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2775 Neighboring gene uncharacterized LOC101928051 Neighboring gene aldo-keto reductase family 1 member C2 Neighboring gene uncharacterized LOC107984198 Neighboring gene aldo-keto reductase family 1 member C3

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?

Pathways from BioSystems

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
17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
alcohol dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
PubMed 
androsterone dehydrogenase (B-specific) activity IDA
Inferred from Direct Assay
more info
PubMed 
bile acid binding IDA
Inferred from Direct Assay
more info
PubMed 
carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
indanol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ketosteroid monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
phenanthrene 9,10-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bile acid and bile salt transport TAS
Traceable Author Statement
more info
PubMed 
bile acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis TAS
Traceable Author Statement
more info
PubMed 
daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
digestion IDA
Inferred from Direct Assay
more info
PubMed 
doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
intestinal cholesterol absorption TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
progesterone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
response to organophosphorus IEP
Inferred from Expression Pattern
more info
PubMed 
retinal metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xenobiotic metabolic process NAS
Non-traceable Author Statement
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
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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
dihydrodiol dehydrogenase isoform DD1
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)

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
    COG0656
    Location:8305
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Support Center