Version 5.4
Homo sapiens Gene: HSD17B4
Summary
InnateDB Gene IDBG-38417.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSD17B4
Gene Name hydroxysteroid (17-beta) dehydrogenase 4
Synonyms DBP; MFE-2; MPF-2; PRLTS1; SDR8C1
Species Homo sapiens
Ensembl Gene ENSG00000133835
Encoded Proteins
IDBP-38419
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-375158
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-375160
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-477402
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-482822
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-479472
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-474600
hydroxysteroid (17-beta) dehydrogenase 4
IDBP-480650
hydroxysteroid (17-beta) dehydrogenase 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:119452443-119637199
Strand Forward strand
Band q23.1
Transcripts
ENST00000256216 ENSP00000256216
ENST00000442060 ENSP00000390208
ENST00000414835 ENSP00000411960
ENST00000511186
ENST00000515320 ENSP00000424613
ENST00000515235
ENST00000510025 ENSP00000424940
ENST00000519184
ENST00000504811 ENSP00000420914
ENST00000512841
ENST00000508750
ENST00000503168
ENST00000507695
ENST00000505181
ENST00000513628 ENSP00000425993
ENST00000508788
ENST00000509514 ENSP00000426272
ENST00000512644
ENST00000520216
ENST00000518349
ENST00000512029
ENST00000520244
ENST00000522415
ENST00000509951
ENST00000507353
ENST00000509606
ENST00000503310
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:0000038 very long-chain fatty acid metabolic 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
GO:0060009 Sertoli cell development
Cellular Component
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024507
View Gene Order
ENSBTAG00000006978
Not yet available
Pathways
NETPATH
REACTOME
REACT_17062
Beta-oxidation of very long chain fatty acids pathway
REACT_17017
Beta-oxidation of pristanoyl-CoA pathway
REACT_11041
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway
REACT_11054
Synthesis of bile acids and bile salts pathway
REACT_121147
alpha-linolenic acid (ALA) metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_16957
Peroxisomal lipid metabolism pathway
REACT_121284
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism pathway
REACT_11040
Bile acid and bile salt metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00120
Primary bile acid biosynthesis pathway
hsa04146
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000414 NM_001199291 NM_001199292 NM_001292027 NM_001292028
HUGO
OMIM
CCDS CCDS4126 CCDS56378 CCDS56379
HPRD 03514
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca