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

Gene ID: 3028, updated on 26-May-2016
Official Symbol
HSD17B10provided by HGNC
Official Full Name
hydroxysteroid (17-beta) dehydrogenase 10provided by HGNC
Primary source
HGNC:HGNC:4800
See related
Ensembl:ENSG00000072506 HPRD:02223; MIM:300256; Vega:OTTHUMG00000021612
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; 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]
Orthologs
Location:
Xp11.2
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 TIMELESS interacting protein pseudogene Neighboring gene vault RNA 3-1, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
2-methyl-3-hydroxybutyric aciduria
MedGen: C1845517 OMIM: 300438 GeneReviews: Not available
Compare labs
Mental retardation, X-linked, syndromic 10
MedGen: C1846168 OMIM: 300220 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

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

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
  • Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
    Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • L-isoleucine degradation I, conserved biosystem (from BIOCYC)
    L-isoleucine degradation I, conserved biosystem|FRAME: ILE| is one of the three main branched chain amino acids (BCAAs), along with |FRAME: LEU| and |FRAME:VAL|. The catabolic pathways of the BCAAs can be divided into two sequential series of rea...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
    Tryptophan metabolism, organism-specific biosystem
    Tryptophan metabolism
  • Valine, leucine and isoleucine degradation, organism-specific biosystem (from KEGG)
    Valine, leucine and isoleucine degradation, organism-specific biosystem
    Valine, leucine and isoleucine degradation
  • Valine, leucine and isoleucine degradation, conserved biosystem (from KEGG)
    Valine, leucine and isoleucine degradation, conserved biosystem
    Valine, leucine and isoleucine degradation
  • fatty acid beta-oxidation, organism-specific biosystem (from BIOCYC)
    fatty acid beta-oxidation, organism-specific biosystemAerobic pathway Although enzymes of the pathway handle both short and long chain fatty acids, it is the long chain compounds that induce the enzymes of the pathway. Each turn of the cycle removes t...
  • fatty acid beta-oxidation I, conserved biosystem (from BIOCYC)
    fatty acid beta-oxidation I, conserved biosystemThe catabolism of fatty acids proceeds via several routes, which depend on the length of the acids, whether the number of carbons is odd or even, and whether they are saturated or unsaturated. This p...
  • isoleucine degradation, organism-specific biosystem (from BIOCYC)
    isoleucine degradation, organism-specific biosystemGeneral Background : ILE is one of the three main branched chain amino acids (BCAAs), along with : LEU and :VAL. The catabolic pathways of the BCAAs can be divided into two sequential series of reac...
  • rRNA processing, organism-specific biosystem (from REACTOME)
    rRNA processing, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...
  • tRNA modification in the mitochondrion, organism-specific biosystem (from REACTOME)
    tRNA modification in the mitochondrion, organism-specific biosystemThe 22 tRNAs encoded by the mitochondrial genome are modified in the mitochondrial matrix by enzymes encoded in the nucleus and imported into mitochondria (reviewed in Suzuki et al. 2011, Salinas-Gie...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...
  • tRNA processing in the mitochondrion, organism-specific biosystem (from REACTOME)
    tRNA processing in the mitochondrion, organism-specific biosystemEach strand of the circular mitochondrial genome is transcribed to yield long polycistronic transcripts, the heavy strand transcript and the light strand transcript, which are then cleaved to yield t...
Products Interactant Other Gene Complex Source Pubs Description

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 EXP
Inferred from Experiment
more info
PubMed 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
acetoacetyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
 
beta-amyloid binding IEA
Inferred from Electronic Annotation
more info
 
cholate 7-alpha-dehydrogenase activity TAS
Traceable Author Statement
more info
PubMed 
estradiol 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
estrogen receptor binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
testosterone dehydrogenase [NAD(P)] activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
cell aging IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
mitochondrial tRNA methylation TAS
Traceable Author Statement
more info
 
mitochondrial tRNA processing TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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
hydroxysteroid dehydrogenase 10
mitochondrial RNase P subunit 2
mitochondrial ribonuclease P protein 2
short chain L-3-hydroxyacyl-CoA dehydrogenase type 2
short chain dehydrogenase/reductase family 5C member 1
short chain dehydrogenase/reductase family 5C, member 1
short chain type dehydrogenase/reductase XH98G2
NP_001032900.1
NP_004484.1

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_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, OTTHUMP00000023349, ENST00000375304, OTTHUMT00000056751
    Conserved Domains (2) summary
    cd05371
    Location:9252
    HSD10-like_SDR_c; 17hydroxysteroid dehydrogenase type 10 (HSD10)-like, classical (c) SDRs
    PRK05557
    Location:7251
    fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Validated
  2. NM_004493.2NP_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, Z97054
    Consensus CDS
    CCDS14354.1
    UniProtKB/Swiss-Prot
    Q99714
    UniProtKB/TrEMBL
    A0A0S2Z410
    Related
    ENSP00000168216, OTTHUMP00000023348, ENST00000168216, OTTHUMT00000056750
    Conserved Domains (2) summary
    cd05371
    Location:9261
    HSD10-like_SDR_c; 17hydroxysteroid dehydrogenase type 10 (HSD10)-like, classical (c) SDRs
    PRK05557
    Location:7260
    fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Validated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    53448673..53451790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)