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    SRD5A3 steroid 5 alpha-reductase 3 [ Homo sapiens (human) ]

    Gene ID: 79644, updated on 22-Apr-2017
    Official Symbol
    SRD5A3provided by HGNC
    Official Full Name
    steroid 5 alpha-reductase 3provided by HGNC
    Primary source
    HGNC:HGNC:25812
    See related
    Ensembl:ENSG00000128039 MIM:611715; Vega:OTTHUMG00000128733
    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
    CDG1P; CDG1Q; KRIZI; SRD5A2L; SRD5A2L1
    Summary
    The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
    Orthologs
    Location:
    4q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (55346114..55373100)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56212388..56239267)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 746, pseudogene Neighboring gene leucine rich repeat containing 34 pseudogene 2 Neighboring gene FCF1 pseudogene 8 Neighboring gene SRD5A3 antisense RNA 1 Neighboring gene uncharacterized LOC105377659 Neighboring gene transmembrane protein 165 Neighboring gene clock circadian regulator

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ13352

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    androgen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    dolichol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dolichol-linked oligosaccharide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dolichyl diphosphate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    polyprenol catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    polyprenol reductase
    Names
    3-oxo-5-alpha-steroid 4-dehydrogenase 3
    S5AR 3
    SR type 3
    probable polyprenol reductase
    NP_078868.1

    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_028230.1 RefSeqGene

      Range
      5001..31880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024592.4NP_078868.1  polyprenol reductase

      See identical proteins and their annotated locations for NP_078868.1

      Status: REVIEWED

      Source sequence(s)
      AC069200, AK023414, CX763068, DB532427
      Consensus CDS
      CCDS3498.1
      UniProtKB/Swiss-Prot
      Q9H8P0
      Related
      ENSP00000264228.4, OTTHUMP00000158927, ENST00000264228.8, OTTHUMT00000250644
      Conserved Domains (1) summary
      cl21511
      Location:69318
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      55346114..55373100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265766.3XP_005265823.1  polyprenol reductase isoform X2

      Conserved Domains (1) summary
      cl21511
      Location:69273
      PEMT; Phospholipid methyltransferase
    2. XM_005265767.3XP_005265824.1  polyprenol reductase isoform X3

      Related
      ENSP00000424714.1, OTTHUMP00000218662, ENST00000505210.1, OTTHUMT00000361583
      Conserved Domains (1) summary
      cl21511
      Location:129207
      PEMT; Phospholipid methyltransferase
    3. XM_017008601.1XP_016864090.1  polyprenol reductase isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      56247542..56274429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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