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

Gene ID: 3028, updated on 5-Jul-2020

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

Genomic context

See HSD17B10 in Genome Data Viewer
Location:
Xp11.22
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (53431258..53434376, complement)
105 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

Function Evidence Code Pubs
3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
3-hydroxyacyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding HDA PubMed 
cholate 7-alpha-dehydrogenase activity TAS
Traceable Author Statement
more info
PubMed 
dihydrotestosterone 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
testosterone dehydrogenase [NAD(P)] activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
mitochondrial tRNA 3'-end processing IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial tRNA 5'-end processing IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial tRNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial tRNA methylation TAS
Traceable Author Statement
more info
 
mitochondrial tRNA processing TAS
Traceable Author Statement
more info
 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial ribonuclease P complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial ribonuclease P complex TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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.

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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