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

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; AllianceGenome:HGNC:4800
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: mouse all
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Genomic context

Location:: Xp11.22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (53431258..53434376, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (52717601..52720718, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (53458206..53461323, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of Type 10 17beta-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease.
Title: Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease.
Infantile Neurodegeneration Results from Mutants of 17beta-Hydroxysteroid Dehydrogenase Type 10 Rather Than Abeta-Binding Alcohol Dehydrogenase.
Title: Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Title: ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Structural basis of RNA processing by human mitochondrial RNase P.
Title: Structural basis of RNA processing by human mitochondrial RNase P.
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Title: Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.
Title: Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.
Results identified a single missense variant, c.364C>G, p.Leu122Val, in patients with HSD10 mitochondrial disease (HSD10MD). The phenotype associated with it currently appears to be attenuated and nonprogressive. This report widens the spectrum of phenotypic severity of HSD10MD and contributes to genotype-phenotype correlation. At present, p.Leu122Val is considered a "variant of uncertain significance."
Title: HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
This study proposes low-resolution models of the MRPP1-MRPP2 and MRPP1-MRPP2-MRPP3 complexes that suggest the overall architecture, stoichiometry, and orientation of subunits and tRNA substrates.
Title: Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
17beta-Hydroxysteroid dehydrogenase type 10 is a multifunctional, homotetrameric, mitochondrial protein encoded by the HSD17B10 gene at Xp 11.2. This protein, 17beta-HSD10, is overexpressed in brain cells of Alzheimer's disease (AD) patients. Analysis of the impact of 17beta-HSD10 and its inhibitor, amyloid-beta peptide (Abeta), on the metabolism of neuroactive steroids offers a new approach to AD pathogenesis.
Title: Roles of Mitochondrial 17β-Hydroxysteroid Dehydrogenase Type 10 in Alzheimer's Disease.
Authors report two patients with novel missense mutations in the HSD17B10 gene (c.34G>C and c.526G>A), resulting in the p.V12L and p.V176M substitutions. Val12 and Val176 are highly conserved residues located at different regions of the MRPP2 structure.
Title: Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
HSD10 mitochondrial 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH1705 (e-PCR)
- UniSTS:38734

SHGC-31766 (e-PCR)
- UniSTS:53139

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables androstan-3-alpha,17-beta-diol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables cholate 7-alpha-dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity	IBA Inferred from Biological aspect of Ancestor more info
enables isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables testosterone dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables testosterone dehydrogenase [NAD(P)] activity	IDA Inferred from Direct Assay more info	PubMed
enables ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in C21-steroid hormone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in androgen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in bile acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in bile acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in brexanolone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in isoleucine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in isoleucine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial tRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial tRNA 5'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial tRNA methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed

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	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial ribonuclease P complex	TAS Traceable Author Statement more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
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
part_of tRNA methyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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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

EC 1.1.1.159

EC 1.1.1.178

EC 1.1.1.239

EC 1.1.1.35

EC 1.1.1.53

EC 1.1.1.62

NP_004484.1

EC 1.1.1.159

EC 1.1.1.178

EC 1.1.1.239

EC 1.1.1.35

EC 1.1.1.53

EC 1.1.1.62

NCBI Reference Sequences (RefSeq)

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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

NG_008153.1 RefSeqGene

Range

5001..8118

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_450

mRNA and Protein(s)

NM_001037811.2 → NP_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:9 → 252

HSD10-like_SDR_c; 17hydroxysteroid dehydrogenase type 10 (HSD10)-like, classical (c) SDRs
NM_004493.3 → NP_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

Q5H927, Q6IBS9, Q8TCV9, Q96HD5, Q99714

UniProtKB/TrEMBL

A0A0S2Z410

Related

ENSP00000168216.6, ENST00000168216.11

Conserved Domains (1) summary

cd05371
Location:9 → 261

HSD10-like_SDR_c; 17hydroxysteroid dehydrogenase type 10 (HSD10)-like, classical (c) SDRs