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    HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 [ Homo sapiens (human) ]

    Gene ID: 3028, updated on 8-Jul-2021

    Summary

    Official Symbol
    HSD17B10provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 10provided by HGNC
    Primary source
    HGNC:HGNC:4800
    See related
    Ensembl:ENSG00000072506 MIM:300256
    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
    ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; HSD10MD; 17b-HSD10; DUPXp11.22
    Summary
    This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]
    Expression
    Ubiquitous expression in liver (RPKM 63.6), kidney (RPKM 48.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HSD17B10 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (53431258..53434376, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53458206..53461323, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene structural maintenance of chromosomes 1A Neighboring gene microRNA 6857 Neighboring gene RIB43A domain with coiled-coils 1 Neighboring gene TIPIN pseudogene 1 Neighboring gene vault RNA 3-1, 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    HSD10 disease
    MedGen: C3266731 OMIM: 300438 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat upregulates the abundance of hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10) in the nucleoli of Jurkat T-cells PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial ribonuclease P complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial ribonuclease P complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    3-hydroxyacyl-CoA dehydrogenase type-2
    Names
    3-hydroxy-2-methylbutyryl-CoA dehydrogenase
    AB-binding alcohol dehydrogenase
    amyloid-beta peptide binding alcohol dehydrogenase
    endoplasmic reticulum-associated amyloid beta-peptide-binding protein
    mitochondrial RNase P subunit 2
    mitochondrial ribonuclease P protein 2
    short chain L-3-hydroxyacyl-CoA dehydrogenase type 2
    short chain type dehydrogenase/reductase XH98G2
    NP_001032900.1
    NP_004484.1

    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_008153.1 RefSeqGene

      Range
      5001..8118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_450

    mRNA and Protein(s)

    1. NM_001037811.2NP_001032900.1  3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2

      See identical proteins and their annotated locations for NP_001032900.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2).
      Source sequence(s)
      AU132847, BC008708, Z97054
      Consensus CDS
      CCDS35300.1
      UniProtKB/Swiss-Prot
      Q99714
      Related
      ENSP00000364453.5, ENST00000375304.9
      Conserved Domains (1) summary
      cd05371
      Location:9252
      HSD10-like_SDR_c; 17hydroxysteroid dehydrogenase type 10 (HSD10)-like, classical (c) SDRs
    2. NM_004493.3NP_004484.1  3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1

      See identical proteins and their annotated locations for NP_004484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AU132847, BC000372
      Consensus CDS
      CCDS14354.1
      UniProtKB/Swiss-Prot
      Q99714
      UniProtKB/TrEMBL
      A0A0S2Z410
      Related
      ENSP00000168216.6, ENST00000168216.11
      Conserved Domains (1) summary
      cd05371
      Location:9261
      HSD10-like_SDR_c; 17hydroxysteroid dehydrogenase type 10 (HSD10)-like, classical (c) SDRs

    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_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      53431258..53434376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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