InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSD17B10

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

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.

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

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

PFAM

PF00106
PF08659

PRINTS

PR00080
PR00081
PR01167
PR01397

PIRSF

PIRSF000126

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt