Homo sapiens Protein: HSD17B4
Summary
InnateDB Protein IDBP-38419.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSD17B4
Protein Name hydroxysteroid (17-beta) dehydrogenase 4
Synonyms DBP; MFE-2; MPF-2; PRLTS1; SDR8C1;
Species Homo sapiens
Ensembl Protein ENSP00000256216
InnateDB Gene IDBG-38417 (HSD17B4)
Protein Structure
UniProt Annotation
Function Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids. {ECO:0000269PubMed:8902629, ECO:0000269PubMed:9089413}.
Subcellular Localization Peroxisome.
Disease Associations D-bifunctional protein deficiency (DBPD) [MIM:261515]: Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269PubMed:10400999, ECO:0000269PubMed:11743515, ECO:0000269PubMed:9482850}. Note=The disease is caused by mutations affecting the gene represented in this entry.Perrault syndrome 1 (PRLTS1) [MIM:233400]: A sex- influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement. {ECO:0000269PubMed:20673864}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Present in many tissues with highest concentrations in liver, heart, prostate and testis.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 33 [view]
Protein-Protein 28 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity
GO:0005102 receptor binding
GO:0016491 oxidoreductase activity
GO:0016508 long-chain-enoyl-CoA hydratase activity
GO:0016853 isomerase activity
GO:0033989 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity
GO:0042803 protein homodimerization activity
GO:0044594 17-beta-hydroxysteroid dehydrogenase (NAD+) activity
Biological Process
GO:0001649 osteoblast differentiation
GO:0006635 fatty acid beta-oxidation
GO:0006699 bile acid biosynthetic process
GO:0008152 metabolic process
GO:0008206 bile acid metabolic process
GO:0008209 androgen metabolic process
GO:0008210 estrogen metabolic process
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase
GO:0033559 unsaturated fatty acid metabolic process
GO:0036109 alpha-linolenic acid metabolic process
GO:0036111 very long-chain fatty-acyl-CoA metabolic process
GO:0036112 medium-chain fatty-acyl-CoA metabolic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle
Protein Structure and Domains
PDB ID
InterPro IPR002198 Short-chain dehydrogenase/reductase SDR
IPR002347 Glucose/ribitol dehydrogenase
IPR002539 MaoC-like domain
IPR003033 SCP2 sterol-binding domain
IPR003560 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase
IPR013968 Polyketide synthase, KR
IPR020842 Polyketide synthase/Fatty acid synthase, KR
IPR029069 HotDog domain
PFAM PF00106
PF01575
PF02036
PF08659
PRINTS PR00080
PR00081
PR01397
PIRSF PIRSF000126
SMART SM00822
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P51659
PhosphoSite PhosphoSite-P51659
TrEMBL Q9UBA4
UniProt Splice Variant
Entrez Gene 3295
UniGene
RefSeq NP_000405
HUGO HGNC:5213
OMIM 601860
CCDS CCDS4126
HPRD 03514
IMGT
EMBL AC010409 AC024564 AF057720 AF057721 AF057722 AF057723 AF057724 AF057725 AF057726 AF057727 AF057728 AF057729 AF057730 AF057731 AF057732 AF057733 AF057734 AF057735 AF057736 AF057737 AF057738 AF057739 AF057740 AK298075 AK301212 BC003098 X87176 Y11393
GenPept AAD08652 AAH03098 BAG60363 BAG62787 CAA60643 CAA72203