Version 5.4
Homo sapiens Gene: HSD17B10
Summary
InnateDB Gene IDBG-69980.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSD17B10
Gene Name hydroxysteroid (17-beta) dehydrogenase 10
Synonyms 17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB; HADH2; HCD2; MHBD; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1
Species Homo sapiens
Ensembl Gene ENSG00000072506
Encoded Proteins
IDBP-69982
hydroxysteroid (17-beta) dehydrogenase 10
IDBP-69984
hydroxysteroid (17-beta) dehydrogenase 10
IDBP-69986
hydroxysteroid (17-beta) dehydrogenase 10
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:53431258-53434373
Strand Reverse strand
Band p11.22
Transcripts
ENST00000168216 ENSP00000168216
ENST00000375304 ENSP00000364453
ENST00000375298 ENSP00000364447
ENST00000477706
ENST00000495986
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
Experimentally validated
Total 35 [view]
Protein-Protein 34 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity
GO:0005515 protein binding
GO:0008709 cholate 7-alpha-dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0030283 testosterone dehydrogenase [NAD(P)] activity
GO:0044822 poly(A) RNA binding
GO:0047015 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity
Biological Process
GO:0006629 lipid metabolic process
GO:0008033 tRNA processing
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025260
View Gene Order
ENSBTAG00000017779
Not yet available
Pathways
NETPATH
REACTOME
REACT_197
Branched-chain amino acid catabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00280
Valine, leucine and isoleucine degradation pathway
hsa05010
Alzheimer's disease pathway
INOH
INOH website
Tryptophan degradation pathway
INOH website
Butanoate metabolism pathway
INOH website
Valine Leucine Isoleucine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001037811 NM_004493
HUGO
OMIM
CCDS CCDS14354 CCDS35300
HPRD 02223
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca