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MGP001510

UniProt Annotations

Entry Information
Gene Namehydroxysteroid (17-beta) dehydrogenase 4
Protein EntryDHB4_HUMAN
UniProt IDP51659
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51659-1; Sequence=Displayed; Name=2; IsoId=P51659-2; Sequence=VSP_046152; Note=No experimental confirmation available.; Name=3; IsoId=P51659-3; Sequence=VSP_046153; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=10 uM for D-3-hydroxy-octanoyl-CoA {ECO:0000269|PubMed:9089413}; KM=13 uM for NAD {ECO:0000269|PubMed:9089413}; KM=2.7 uM for 3-ketooctanoyl-CoA {ECO:0000269|PubMed:9089413}; KM=5.4 uM for NADH {ECO:0000269|PubMed:9089413}; Vmax=8.8 umol/min/mg enzyme {ECO:0000269|PubMed:9089413};
Catalytic Activity(24R,25R)-3-alpha,7-alpha,12-alpha,24- tetrahydroxy-5-beta-cholestanoyl-CoA = (24E)-3-alpha,7-alpha,12- alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA + H(2)O. {ECO:0000269|PubMed:9089413}.
Catalytic Activity(3R)-3-hydroxyacyl-CoA = (2E)-2-enoyl-CoA + H(2)O. {ECO:0000269|PubMed:9089413}.
Catalytic Activity(R)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH. {ECO:0000269|PubMed:9089413}.
DiseaseD-bifunctional protein deficiency (DBPD) [MIM:261515]: Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269|PubMed:10400999, ECO:0000269|PubMed:11743515, ECO:0000269|PubMed:9482850}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePerrault 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:0000269|PubMed:20673864}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBifunctional 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:0000269|PubMed:8902629, ECO:0000269|PubMed:9089413}.
MiscellaneousThe protein is found both as a full length peptide and in a cleaved version.
PathwayLipid metabolism; fatty acid beta-oxidation.
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO:0000305}.
SimilarityContains 1 MaoC-like domain. {ECO:0000305}.
SimilarityContains 1 SCP2 domain. {ECO:0000305}.
Subcellular LocationPeroxisome.
SubunitHomodimer. {ECO:0000269|PubMed:11700068, ECO:0000269|PubMed:8902629}.
Tissue SpecificityPresent in many tissues with highest concentrations in liver, heart, prostate and testis.
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