Homo sapiens Protein: HSD17B10 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-69982.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | HSD17B10 | ||||||||||||||||||
Protein 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 Protein | ENSP00000168216 | ||||||||||||||||||
InnateDB Gene | IDBG-69980 (HSD17B10) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. Catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). {ECO:0000269PubMed:12917011, ECO:0000269PubMed:18984158, ECO:0000269PubMed:9338779}. | ||||||||||||||||||
Subcellular Localization | Mitochondrion {ECO:0000269PubMed:12917011, ECO:0000269PubMed:18984158}. | ||||||||||||||||||
Disease Associations | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]: A disorder that leads to neurological abnormalities, including psychomotor retardation and, in virtually all patients, loss of mental and motor skills. {ECO:0000269PubMed:12696021, ECO:0000269PubMed:16148061}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, X-linked, syndromic, 10 (MRXS10) [MIM:300220]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS10 patients manifest mild mental retardation, choreoathetosis and abnormal behavior. {ECO:0000269PubMed:17236142}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269PubMed:18252223}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation. | ||||||||||||||||||
Tissue Specificity | Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD. {ECO:0000269PubMed:9338779}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002198
Short-chain dehydrogenase/reductase SDR IPR002347 Glucose/ribitol dehydrogenase IPR002424 Alcohol dehydrogenase, insect-type IPR003560 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase IPR013968 Polyketide synthase, KR |
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PFAM |
PF00106
PF08659 |
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PRINTS |
PR00080
PR00081 PR01167 PR01397 |
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PIRSF |
PIRSF000126
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SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q99714 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q99714 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 3028 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | NP_004484 | ||||||||||||||||||
HUGO | HGNC:4800 | ||||||||||||||||||
OMIM | 300256 | ||||||||||||||||||
CCDS | CCDS14354 | ||||||||||||||||||
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 CAI42652 CAI42653 EAW93157 EAW93158 | ||||||||||||||||||