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    HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 [ Homo sapiens (human) ]

    Gene ID: 51478, updated on 8-Oct-2018

    Summary

    Official Symbol
    HSD17B7provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 7provided by HGNC
    Primary source
    HGNC:HGNC:5215
    See related
    Ensembl:ENSG00000132196 MIM:606756; Vega:OTTHUMG00000034420
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRAP; SDR37C1
    Summary
    HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
    Expression
    Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See HSD17B7 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (162790702..162812818)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162760496..162782608)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724358 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene coiled-coil domain containing 190 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial pseudogene

    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?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC12523, MGC75018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-keto sterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    3-keto sterol reductase activity TAS
    Traceable Author Statement
    more info
     
    estradiol 17-beta-dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    estrogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    3-keto-steroid reductase
    Names
    17 beta-hydroxysteroid dehydrogenase type VII
    17-beta-HSD 7
    17-beta-hydroxysteroid dehydrogenase 7
    17beta hydroxysteroid dehydrogenase
    estradiol 17-beta-dehydrogenase 7
    short chain dehydrogenase/reductase family 37C member 1
    NP_001291441.1
    NP_001291442.1
    NP_057455.1

    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_001304512.1NP_001291441.1  3-keto-steroid reductase isoform 2

      See identical proteins and their annotated locations for NP_001291441.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AU129437, AW136392, BC007068, DB256037
      UniProtKB/Swiss-Prot
      P56937
      UniProtKB/TrEMBL
      Q9H9C0
      Conserved Domains (1) summary
      cl21454
      Location:2153
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_001304513.1NP_001291442.1  3-keto-steroid reductase isoform 3

      See identical proteins and their annotated locations for NP_001291442.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AU129437, AW136392, BC007068
      Consensus CDS
      CCDS76234.1
      UniProtKB/Swiss-Prot
      P56937
      UniProtKB/TrEMBL
      Q5T248
      Related
      ENSP00000356889.1, OTTHUMP00000038440, ENST00000367913.2, OTTHUMT00000097922
      Conserved Domains (1) summary
      cl25409
      Location:2110
      SDR; Short-chain dehydrogenases/reductases (SDR)
    3. NM_016371.3NP_057455.1  3-keto-steroid reductase isoform 1

      See identical proteins and their annotated locations for NP_057455.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AU129437, BC007068, BC065246
      Consensus CDS
      CCDS1242.1
      UniProtKB/Swiss-Prot
      P56937
      UniProtKB/TrEMBL
      A0A024R913
      Related
      ENSP00000254521.3, OTTHUMP00000032328, ENST00000254521.7, OTTHUMT00000083207
      Conserved Domains (1) summary
      cd08941
      Location:2280
      3KS_SDR_c; 3-keto steroid reductase, classical (c) SDRs

    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_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      162790702..162812818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_921830.3 RNA Sequence

    2. XR_001737223.2 RNA Sequence

    3. XR_001737222.2 RNA Sequence

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