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Aliases for HSD17B4 Gene

Aliases for HSD17B4 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 4 2 3
  • 17-Beta-Hydroxysteroid Dehydrogenase 4 2 3 4
  • 3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholest-24-Enoyl-CoA Hydratase 2 3
  • Short Chain Dehydrogenase/Reductase Family 8C Member 1 3 4
  • 17beta-Estradiol Dehydrogenase Type IV 2 3
  • Peroxisomal Multifunctional Protein 2 2 3
  • D-3-Hydroxyacyl-CoA Dehydratase 2 3
  • Beta-Hydroxyacyl Dehydrogenase 2 3
  • Multifunctional Protein 2 3 4
  • D-Bifunctional Protein 2 4
  • Beta-Keto-Reductase 2 3
  • 17-Beta-HSD IV 2 3
  • 17-Beta-HSD 4 3 4
  • PRLTS1 3 6
  • SDR8C1 3 4
  • MFE-2 3 4
  • MPF-2 3 4
  • DBP 3 4
  • Short Chain Dehydrogenase/Reductase Family 8C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 8C 2
  • Peroxisomal Multifunctional Enzyme Type 2 3
  • D-Bifunctional Protein, Peroxisomal 3
  • Peroxisomal 2
  • Member 1 2
  • EDH17B4 4

External Ids for HSD17B4 Gene

Previous GeneCards Identifiers for HSD17B4 Gene

  • GC05P118490
  • GC05P119186
  • GC05P118819
  • GC05P118864
  • GC05P118816
  • GC05P113983
  • GC05P118789

Summaries for HSD17B4 Gene

Entrez Gene Summary for HSD17B4 Gene

  • 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]

GeneCards Summary for HSD17B4 Gene

HSD17B4 (Hydroxysteroid (17-Beta) Dehydrogenase 4) is a Protein Coding gene. Diseases associated with HSD17B4 include d-bifunctional protein deficiency and perrault syndrome 1. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and isomerase activity. An important paralog of this gene is SCP2.

UniProtKB/Swiss-Prot for HSD17B4 Gene

  • 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.

Gene Wiki entry for HSD17B4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B4 Gene

Genomics for HSD17B4 Gene

Regulatory Elements for HSD17B4 Gene

Genomic Location for HSD17B4 Gene

Start:
119,452,443 bp from pter
End:
119,637,199 bp from pter
Size:
184,757 bases
Orientation:
Plus strand

Genomic View for HSD17B4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD17B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B4 Gene

Proteins for HSD17B4 Gene

  • Protein details for HSD17B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51659-DHB4_HUMAN
    Recommended name:
    Peroxisomal multifunctional enzyme type 2
    Protein Accession:
    P51659
    Secondary Accessions:
    • B4DNV1
    • B4DVS5
    • E9PB82
    • F5HE57

    Protein attributes for HSD17B4 Gene

    Size:
    736 amino acids
    Molecular mass:
    79686 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The protein is found both as a full length peptide and in a cleaved version

    Three dimensional structures from OCA and Proteopedia for HSD17B4 Gene

    Alternative splice isoforms for HSD17B4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B4 Gene

Proteomics data for HSD17B4 Gene at MOPED

Post-translational modifications for HSD17B4 Gene

  • Ubiquitination at Lys565
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HSD17B4 Gene

Domains for HSD17B4 Gene

Gene Families for HSD17B4 Gene

HGNC:
  • SDRC3 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

Suggested Antigen Peptide Sequences for HSD17B4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51659

UniProtKB/Swiss-Prot:

DHB4_HUMAN :
  • P51659
Domain:
  • Contains 1 MaoC-like domain.
  • Contains 1 SCP2 domain.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B4: view

Function for HSD17B4 Gene

Molecular function for HSD17B4 Gene

GENATLAS Biochemistry:
17 beta-hydroxysteroid dehydrogenase type 4,widely expressed,mainly in liver,heart,testis,prostate,multifunctional enzyme localized in the peroxisome,involved in steroid inactivation,stimulated by progesterone,also displaying an intrinsic fatty acid CoA hydratase and sterol transfer activities,playing an essential role in the formation of active intracellular sex steroids
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic 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};
UniProtKB/Swiss-Prot CatalyticActivity:
(R)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
(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.
UniProtKB/Swiss-Prot CatalyticActivity:
(3R)-3-hydroxyacyl-CoA = (2E)-2-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS --
GO:0005102 receptor binding IPI 20178365
GO:0016491 oxidoreductase activity --
GO:0016508 long-chain-enoyl-CoA hydratase activity TAS --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with HSD17B4: view
genes like me logo Genes that share phenotypes with HSD17B4: view

Animal Models for HSD17B4 Gene

MGI Knock Outs for HSD17B4:

Animal Model Products

miRNA for HSD17B4 Gene

miRTarBase miRNAs that target HSD17B4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD17B4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HSD17B4 Gene

Localization for HSD17B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B4 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B4 Gene COMPARTMENTS Subcellular localization image for HSD17B4 gene
Compartment Confidence
peroxisome 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome NAS 7487879
GO:0005778 peroxisomal membrane IDA 21525035
GO:0005782 peroxisomal matrix TAS --
GO:0016020 membrane IDA 16210410
genes like me logo Genes that share ontologies with HSD17B4: view

Pathways for HSD17B4 Gene

genes like me logo Genes that share pathways with HSD17B4: view

UniProtKB/Swiss-Prot P51659-DHB4_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IEA --
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006635 fatty acid beta-oxidation IDA 10400999
GO:0006699 bile acid biosynthetic process TAS --
GO:0008152 metabolic process IDA 9089413
genes like me logo Genes that share ontologies with HSD17B4: view

Compounds for HSD17B4 Gene

(30) HMDB Compounds for HSD17B4 Gene

Compound Synonyms Cas Number PubMed IDs
(3S)-3-Hydroxyadipyl-CoA
  • (3S)-3-Hydroxyadipyl-CoEnzyme A
Not Available
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-hydroxydodecanoyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
35106-50-4
(S)-3-hydroxypalmitoleoyl-CoA
  • (S)-3-hydroxyhexadeca-9Z-enoyl-CoA
Not Available
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-Coenzyme A.
Not Available

(3) Drugbank Compounds for HSD17B4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3r-Hydroxydecanoyl-Coa
target
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target

(9) Novoseek inferred chemical compound relationships for HSD17B4 Gene

Compound -log(P) Hits PubMed IDs
17beta-hydroxysteroid 75.5 8
acyl-coa 70 6
sterol 66.8 3
cholic acid 55.9 1
clofibrate 53.3 1
genes like me logo Genes that share compounds with HSD17B4: view

Transcripts for HSD17B4 Gene

Unigene Clusters for HSD17B4 Gene

Hydroxysteroid (17-beta) dehydrogenase 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD17B4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b
SP1: - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HSD17B4 Gene

GeneLoc Exon Structure for
HSD17B4
ECgene alternative splicing isoforms for
HSD17B4

Expression for HSD17B4 Gene

mRNA expression in normal human tissues for HSD17B4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B4 Gene

This gene is overexpressed in Liver (4.0).

Protein differential expression in normal tissues for HSD17B4 Gene

This gene is overexpressed in Liver (12.2), Fetal Liver (7.3), and Adrenal (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSD17B4 Gene

SOURCE GeneReport for Unigene cluster for HSD17B4 Gene Hs.406861

mRNA Expression by UniProt/SwissProt for HSD17B4 Gene

P51659-DHB4_HUMAN
Tissue specificity: Present in many tissues with highest concentrations in liver, heart, prostate and testis
genes like me logo Genes that share expressions with HSD17B4: view

Expression partners for HSD17B4 Gene

In Situ Assay Products

Orthologs for HSD17B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD17B4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD17B4 35
  • 88.22 (n)
  • 85.33 (a)
HSD17B4 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B4 35
  • 88.72 (n)
  • 87.36 (a)
HSD17B4 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b4 35
  • 84.76 (n)
  • 86.39 (a)
Hsd17b4 16
Hsd17b4 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD17B4 35
  • 99.64 (n)
  • 99.46 (a)
HSD17B4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b4 35
  • 85.17 (n)
  • 87.48 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD17B4 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B4 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD17B4 35
  • 72.81 (n)
  • 72.03 (a)
HSD17B4 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSD17B4 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b4 35
  • 70.72 (n)
  • 71.58 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25981 35
zebrafish
(Danio rerio)
Actinopterygii hsd17b4 35
  • 64.32 (n)
  • 69.24 (a)
zgc55545 35
hsd17b4 36
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10838 35
fruit fly
(Drosophila melanogaster)
Insecta CG3415 37
  • 51 (a)
Mfe2 35
  • 54.22 (n)
  • 55.38 (a)
Mfe2 36
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008667 35
  • 53.66 (n)
  • 54.47 (a)
worm
(Caenorhabditis elegans)
Secernentea E04F6.3 37
  • 52 (a)
dhs-28 35
  • 55.05 (n)
  • 50.57 (a)
maoc-1 36
  • 45 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL060W 35
  • 51.07 (n)
  • 42.57 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13817g 35
  • 51.13 (n)
  • 43.67 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 35
  • 49.91 (n)
  • 42.83 (a)
FOX2 36
  • 20 (a)
OneToMany
FOX2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ECH2 35
  • 49.09 (n)
  • 44 (a)
rice
(Oryza sativa)
Liliopsida Os09g0544900 35
  • 49.08 (n)
  • 40.59 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08828 35
  • 52.83 (n)
  • 50.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for HSD17B4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD17B4 Gene

ENSEMBL:
Gene Tree for HSD17B4 (if available)
TreeFam:
Gene Tree for HSD17B4 (if available)

Paralogs for HSD17B4 Gene

Paralogs for HSD17B4 Gene

Selected SIMAP similar genes for HSD17B4 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for HSD17B4 Gene

genes like me logo Genes that share paralogs with HSD17B4: view

Variants for HSD17B4 Gene

Sequence variations from dbSNP and Humsavar for HSD17B4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs11205 - 119,526,018(+) AGGCA(A/G)TTAAG reference, missense
rs12714 -- 119,541,982(+) GACTA(C/T)GCCAA reference, synonymous-codon
rs25640 Pathogenic, -, D-bifunctional protein deficiency (DBPD) 119,475,838(+) GGATC(A/C/G)TTCCT missense, reference, utr-variant-5-prime
rs26180 -- 119,452,501(+) CATTC(A/C/G)CCGCC utr-variant-5-prime
rs26181 -- 119,455,764(+) TAACT(C/T)CTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B4 Gene

Variant ID Type Subtype PubMed ID
nsv4974 CNV Loss 18451855
esv2486573 CNV Deletion 19546169
nsv882776 CNV Gain 21882294
nsv882777 CNV Loss 21882294

Relevant External Links for HSD17B4 Gene

HapMap Linkage Disequilibrium report
HSD17B4
Human Gene Mutation Database (HGMD)
HSD17B4
Locus Specific Mutation Databases (LSDB)
HSD17B4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B4 Gene

Disorders for HSD17B4 Gene

(2) OMIM Diseases for HSD17B4 Gene (601860)

UniProtKB/Swiss-Prot

DHB4_HUMAN
  • D-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.
  • 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:0000269 PubMed:20673864}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for HSD17B4 Gene

Disease -log(P) Hits PubMed IDs
d-bifunctional protein deficiency 98.4 10
rhizomelic chondrodysplasia punctata, type 1 91.4 2
peroxisomal disorders 82.8 3
peroxisome biogenesis disorders 80.7 1
zellweger syndrome 80 5

Relevant External Links for HSD17B4

Genetic Association Database (GAD)
HSD17B4
Human Genome Epidemiology (HuGE) Navigator
HSD17B4
genes like me logo Genes that share disorders with HSD17B4: view

No data available for Genatlas for HSD17B4 Gene

Publications for HSD17B4 Gene

  1. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. (PMID: 8902629) Jiang L.L. … Hashimoto T. (J. Biochem. 1996) 3 4 23
  2. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. (PMID: 9482850) van Grunsven E.G. … Wanders R.J.A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  3. Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. (PMID: 15644212) Koski K.M. … Glumoff T. (J. Mol. Biol. 2005) 3 4 23
  4. The role of alpha-methylacyl-CoA racemase in bile acid synthesis. (PMID: 11964182) Cuebas D.A. … Novikov D.K. (Biochem. J. 2002) 3 23
  5. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. (PMID: 11992265) Ferdinandusse S. … Wanders R.J. (Am. J. Hum. Genet. 2002) 3 23

Products for HSD17B4 Gene

Sources for HSD17B4 Gene

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