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

    Gene ID: 6718, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See AKR1D1 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (138076459..138118305)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (137761205..137803051)

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Congenital bile acid synthesis defect 2
    MedGen: C1856127 OMIM: 235555 GeneReviews: Not available
    Compare labs
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 delta4-3-oxosteroid 5beta-reductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ketosteroid monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables steroid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables steroid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    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
     

    General protein information

    Preferred Names
    aldo-keto reductase family 1 member D1
    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)

    NEW Try the new Transcript table

    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
      5028..46874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190906.2NP_001177835.1  aldo-keto reductase family 1 member D1 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
      cl00470
      Location:15281
      AKR_SF; Aldo-keto reductase (AKR) superfamily
    2. NM_001190907.2NP_001177836.1  aldo-keto reductase family 1 member D1 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
      cd19109
      Location:15286
      AKR_AKR1D1-3; AKR1D family of aldo-keto reductase (AKR)
    3. NM_005989.4NP_005980.1  aldo-keto reductase family 1 member D1 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
      cd19109
      Location:15322
      AKR_AKR1D1-3; AKR1D 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_000007.14 Reference GRCh38.p13 Primary Assembly

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