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

    Gene ID: 6718, updated on 17-Jun-2019

    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
    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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (138076459..138118305)
    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 RN7SK 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 Apr 4 07:08:55 2018

    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
    not available

    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 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
     

    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_001190906.2NP_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, ENST00000411726.6
      Conserved Domains (1) summary
      COG0656
      Location:9268
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    2. NM_001190907.2NP_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, ENST00000432161.5
      Conserved Domains (1) summary
      COG0656
      Location:9288
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    3. NM_005989.4NP_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, Z28339
      Consensus CDS
      CCDS5846.1
      UniProtKB/Swiss-Prot
      P51857
      Related
      ENSP00000242375.3, ENST00000242375.8
      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

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      138076459..138118305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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