HSD17B10 - hydroxysteroid 17-beta dehydrogenase 10 Gene

Also Known as ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; HSD10MD; 17b-HSD10; DUPXp11.22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3028

About HSD17B10

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,431,258-53,434,376 (from NCBI)

This gene has 9 transcripts (splice variants), 214 orthologues, 25 paralogues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 63.6), kidney (RPKM 48.2) and 25 other tissues.

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]

HSD17B10 Products (2)

mRNA Protein Name
NM_001037811.2 NP_001032900.1 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2
NM_004493.3 NP_004484.1 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
12917011 GOA
enables 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
18996107 GOA
enables 3-hydroxyacyl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
12917011 GOA
enables chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
12917011 GOA
enables cholate 7-alpha-dehydrogenase activity IDA
IDA: Inferred from direct assay
12917011 GOA
enables isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
12917011 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9338779 GOA
enables tRNA binding IDA
IDA: Inferred from direct assay
29040705 GOA
enables testosterone dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
12917011 GOA
enables testosterone dehydrogenase [NAD(P)+] activity IDA
IDA: Inferred from direct assay
28888424 GOA
enables ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
12917011 GOA
Biological Process GO Annotation Evidence References Source
involved in C21-steroid hormone metabolic process IDA
IDA: Inferred from direct assay
12917011 GOA
involved in androgen metabolic process IDA
IDA: Inferred from direct assay
12917011 GOA
involved in bile acid biosynthetic process IDA
IDA: Inferred from direct assay
12917011 GOA
involved in brexanolone metabolic process IDA
IDA: Inferred from direct assay
19706438 GOA
involved in estrogen metabolic process IDA
IDA: Inferred from direct assay
12917011 GOA
involved in fatty acid beta-oxidation IDA
IDA: Inferred from direct assay
12917011 GOA
involved in isoleucine catabolic process IDA
IDA: Inferred from direct assay
18996107 GOA
involved in mitochondrial tRNA 3'-end processing IDA
IDA: Inferred from direct assay
29040705 GOA
involved in mitochondrial tRNA 5'-end processing IDA
IDA: Inferred from direct assay
24549042 GOA
involved in mitochondrial tRNA methylation IDA
IDA: Inferred from direct assay
23042678 GOA
involved in mitochondrion organization IMP
IMP: Inferred from mutant phenotype
20077426 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
25925575 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial nucleoid IDA
IDA: Inferred from direct assay
24703694 GOA
part of mitochondrial ribonuclease P complex IDA
IDA: Inferred from direct assay
25925575 GOA
part of mitochondrial ribonuclease P complex IPI
IPI: Inferred from physical interaction
29880640 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
23042678 GOA
part of tRNA methyltransferase complex IPI
IPI: Inferred from physical interaction
23042678 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD17B10 Protein Structure

adh_short

adh_short: short chain dehydrogenase (12 - 184)

  • 0
  • 100
  • 200
  • 261 a.a.
Protein Preferred Names Protein Names

3-hydroxyacyl-CoA dehydrogenase type-2

  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase

HSD17B10 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HSD17B10 Q99714 TRAP1 Homo sapiens Q12931 29128334
Intra
HSD17B10 Q99714 TRAP1 Homo sapiens Q12931 29128334
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3
DSC
29880640
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 29880640
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3
GMS
29880640
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 29880640
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 33961781
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 29880640
Intra
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 28514442
Intra
HSD17B10 Q99714 EEF2 Homo sapiens P13639 29128334
Intra
HSD17B10 Q99714 EEF2 Homo sapiens P13639 29128334
Intra
HSD17B10 Q99714 APP Homo sapiens P05067
Y2H
9338779
Intra
HSD17B10 Q99714 APP Homo sapiens P05067 9338779
Intra
HSD17B10 Q99714 APP Homo sapiens P05067 9338779
Intra
HSD17B10 Q99714 P05067-PRO_0000000092 Homo sapiens P05067-PRO_0000000092
SPR
32825572
Cross: Cross-species interaction Intra: Intraspecies interaction

HSD17B10 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83598 ERAB Antibody (YA3343) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Hsd10 Mitochondrial Disease
  • 2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency

  • Mhbd Deficiency

  • 2-Methyl-3-Hydroxybutyric Aciduria

  • Hsd10 Disease

  • Hsd10 Deficiency

  • HSD10MD

  • Hsd17b10 Deficiency

  • 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency

  • 3-Hydroxyacyl-Coa Dehydrogenase Ii Deficiency

  • Mrxs10

  • Camr

  • 2m3hba

  • 3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency

  • 3h2mbd Deficiency

  • Hydroxyacyl-Coa Dehydrogenase Ii Deficiency

  • Choreoathetosis With Mental Retardation And Abnormal Behavior

  • Mental Retardation With Choreoathetosis And Abnormal Behavior

  • 17 Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency

  • 17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency

  • Hsd10 Disease, Infantile Type

  • 2-Methyl-3-Hydroxybutyric Aciduria, Classic Type

  • 2-Methyl-3-Hydroxybutyric Aciduria, Infantile Type

  • 2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Classic Type

  • 2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Infantile Type

  • Hsd10 Deficiency, Classic Type

  • Hsd10 Deficiency, Infantile Type

  • Hsd10 Disease, Classic Type

  • Mhbd Deficiency, Classic Type

  • Mhbd Deficiency, Infantile Type

  • Hsd10 Disease, Neonatal Type

  • 2-Methyl-3-Hydroxybutyric Aciduria, Neonatal Type

  • 2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Neonatal Type

  • Hsd10 Deficiency, Neonatal Type

  • Mhbd Deficiency, Neonatal Type

  • Hds10 Mitochondrial Disease

  • 3-Hydroxyacyl-Coa Dehydrogenase Type 2 Deficiency

  • 3-Hydroxyacyl-Coa Dehydrogenase Type-2 Deficiency

  • 3-Hydroxyacyl-Coa Dehydrogenase Type Ii Deficiency

  • Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency

  • Mental Retardation, X-Linked, Syndromic 10

Syndromic X-Linked Intellectual Disability Type 10
  • Hsd10 Deficiency, Atypical Type

  • Hsd10 Disease, Atypical Type

  • X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

  • Mrxs10

  • Mental Retardation, X-Linked, Syndromic 10

Alpha-Methylacetoacetic Aciduria
  • Beta-Ketothiolase Deficiency

  • 3-Ketothiolase Deficiency

  • 3-Oxothiolase Deficiency

  • Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

  • Alpha-Methylacetoaceticaciduria

  • Mat Deficiency

  • T2 Deficiency

  • 2-Methyl-3-Hydroxybutyricacidemia

  • Beta Ketothiolase Deficiency

  • Pseudo-Zellweger Syndrome

  • 2-Methyl-3-Hydroxybutyric Acidemia

  • 3-Ktd Deficiency

  • Peroxisomal Thiolase Deficiency

  • 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • 3-Alpha-Oxothiolase Deficiency

  • Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

  • Β-Ketothiolase Deficiency

  • Alpha Methylacetoacetic Aciduria

  • Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

  • Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

  • 3KTD

  • Aciduria, Alpha-Methylacetoacetic

  • Deficiency Of Acetyl-Coa Acetyltransferase

  • Deficiency Of Acetyl-Coa Acyltransferase

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Bifunctional Peroxisomal Enzyme Deficiency

Hyperinsulinism
  • Hyperinsulinemia

Metabolic Acidosis
Mitochondrial Disease
  • Mitochondrial Diseases

  • Mitochondrial Disorder

Chromosome 3q29 Duplication Syndrome
  • Chromosome 3q29 Microduplication Syndrome

  • Trisomy 3q29

  • Microduplication 3q29 Syndrome

  • 3q29 Microduplication

  • 3q29 Microduplication Syndrome

  • 3q29 Interstitial Microduplication

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HSD17B10 RGD RGD:69231
Bos taurus HSD17B10 VGNC VGNC:29969
Macaca mulatta HSD17B10 VGNC VGNC:81419
Felis catus HSD17B10 VGNC VGNC:97457
Mus musculus HSD17B10 MGD MGI:1333871
Canis familiaris HSD17B10 VGNC VGNC:41801
Others HSD17B10 NCBI