Homo sapiens Gene: HSD17B10
Summary
InnateDB Gene IDBG-69980.4
Last Modified 2011-02-17 [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
hydroxysteroid (17-beta) dehydrogenase 10
hydroxysteroid (17-beta) dehydrogenase 10
hydroxysteroid (17-beta) dehydrogenase 10
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:53458206-53461320
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 28 experimentally validated interaction(s) in this database.
Experimentally validated
Total 28 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 2 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0001540 beta-amyloid binding
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity
GO:0004303 estradiol 17-beta-dehydrogenase activity
GO:0005496 steroid binding
GO:0005515 protein binding
GO:0008709 cholate 7-alpha-dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0018454 acetoacetyl-CoA reductase activity
GO:0030331 estrogen receptor binding
GO:0042802 identical protein binding
GO:0047015 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity
GO:0051287 NAD binding
Biological Process
GO:0006629 lipid metabolic process
GO:0007569 cell aging
GO:0008033 tRNA processing
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0033327 Leydig cell differentiation
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0051289 protein homotetramerization
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
KEGG
Metabolic pathways pathway
Valine, leucine and isoleucine degradation pathway
Alzheimer`s disease pathway
INOH
Tryptophan degradation pathway
Valine Leucine Isoleucine degradation pathway
Butanoate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q99714
TrEMBL Q5H928 Q6IBS9
UniProt Splice Variant
Entrez Gene 3028
UniGene
RefSeq NM_001037811 NM_004493
HUGO 4800
OMIM 300256
CCDS CCDS14354 CCDS35300
HPRD 02223
IMGT
EMBL AF035555 AF037438 AF069134 AY092415 BC000372 BC008708 CH471154 CR456723 U73514 U96132 Z97054
GenPept AAB68958 AAC15902 AAC16419 AAC39900 AAC51812 AAH00372 AAH08708 AAM18189 CAG33004 CAI42651 CAI42652 CAI42653 EAW93157 EAW93158
ImmGen HSD17B10 (murine)
RNA Seq Atlas 3028