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AKR1D1 aldo-keto reductase family 1 member D1 [ Homo sapiens (human) ]

Gene ID: 6718, updated on 12-Aug-2018

Summary

Official Symbol
AKR1D1provided by HGNC
Official Full Name
aldo-keto reductase family 1 member D1provided by HGNC
Primary source
HGNC:HGNC:388
See related
Ensembl:ENSG00000122787 MIM:604741; Vega:OTTHUMG00000155787
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
CBAS2; SRD5B1; 3o5bred
Summary
The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
Expression
Restricted expression toward liver (RPKM 96.8) See more
Orthologs

Genomic context

See AKR1D1 in Genome Data Viewer
Location:
7q33
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (138076432..138118304)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (137761178..137803050)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 regulatory subunit B', gamma pseudogene Neighboring gene Der1-like domain family, member 2 pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 223 Neighboring gene microRNA 4468 Neighboring gene regulator of chromosome condensation 2 pseudogene 3 Neighboring gene uncharacterized LOC107986749

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bile acid synthesis defect, congenital, 2
MedGen: C1856127 OMIM: 235555 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genome-wide association of mood-incongruent psychotic bipolar disorder.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
 
delta4-3-oxosteroid 5beta-reductase activity IEA
Inferred from Electronic Annotation
more info
 
ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid binding TAS
Traceable Author Statement
more info
PubMed 
steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
androgen metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
androgen metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
bile acid catabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
digestion IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
3-oxo-5-beta-steroid 4-dehydrogenase
Names
delta(4)-3-ketosteroid 5-beta-reductase
delta(4)-3-oxosteroid 5-beta-reductase
steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)
NP_001177835.1
NP_001177836.1
NP_005980.1

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.

Genomic

  1. NG_023342.1 RefSeqGene

    Range
    5001..46873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190906.1NP_001177835.1  3-oxo-5-beta-steroid 4-dehydrogenase isoform 2

    See identical proteins and their annotated locations for NP_001177835.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC083867, AK298421, AK298428
    Consensus CDS
    CCDS55170.1
    UniProtKB/Swiss-Prot
    P51857
    Related
    ENSP00000402374.2, OTTHUMP00000208643, ENST00000411726.6, OTTHUMT00000341636
    Conserved Domains (1) summary
    COG0656
    Location:9268
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  2. NM_001190907.1NP_001177836.1  3-oxo-5-beta-steroid 4-dehydrogenase isoform 3

    See identical proteins and their annotated locations for NP_001177836.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC083867, AK298421
    Consensus CDS
    CCDS55169.1
    UniProtKB/Swiss-Prot
    P51857
    Related
    ENSP00000389197.1, OTTHUMP00000208645, ENST00000432161.5, OTTHUMT00000341643
    Conserved Domains (1) summary
    COG0656
    Location:9288
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  3. NM_005989.3NP_005980.1  3-oxo-5-beta-steroid 4-dehydrogenase isoform 1

    See identical proteins and their annotated locations for NP_005980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC083867, AK298421, Z28339
    Consensus CDS
    CCDS5846.1
    UniProtKB/Swiss-Prot
    P51857
    Related
    ENSP00000242375.3, OTTHUMP00000208644, ENST00000242375.7, OTTHUMT00000341637
    Conserved Domains (1) summary
    COG0656
    Location:9309
    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.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    138076432..138118304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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