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HSD17B4

GENERAL INFORMATION

Gene name

 HSD17B4

Gene description

 Hydroxysteroid (17-beta) dehydrogenase 4

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in all tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA021302 , HPA021311 , HPA021479
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Lung

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 HSD17B4 (HGNC Symbol)

Synonyms

 DBP, MFE-2, SDR8C1

Description

 Hydroxysteroid (17-beta) dehydrogenase 4 (HGNC Symbol)

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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Chromosome

 5

Cytoband

 q23.1

Chromosome location (bp)

 119452443 - 119637199

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000133835 (version 83.38)

Entrez gene

 3295

UniProt

 P51659 (UniProt - Evidence at protein level)

neXtProt

 NX_P51659

Antibodypedia

 HSD17B4 antibodies

PROTEIN BROWSER
HSD17B4-001
HSD17B4-002
HSD17B4-003
HSD17B4-004
HSD17B4-005
HSD17B4-006
HSD17B4-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HSD17B4-001
ENSP00000256216
ENST00000256216
P51659 [Direct mapping]
Peroxisomal multifunctional enzyme type 2 (3R)-hydroxyacyl-CoA dehydrogenase Enoyl-CoA hydratase 2
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Lyases
   SPOCTOPUS predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001649 [osteoblast differentiation]
GO:0003857 [3-hydroxyacyl-CoA dehydrogenase activity]
GO:0005102 [receptor binding]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
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:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016508 [long-chain-enoyl-CoA hydratase activity]
GO:0016853 [isomerase activity]
GO:0033540 [fatty acid beta-oxidation using acyl-CoA oxidase]
GO:0033559 [unsaturated fatty acid metabolic process]
GO:0033989 [3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity]
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:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0044594 [17-beta-hydroxysteroid dehydrogenase (NAD+) activity]
GO:0055114 [oxidation-reduction process]
Show all
 736 aa
79.7 kDa 		No 0
HSD17B4-002
ENSP00000424613
ENST00000515320
P51659 [Direct mapping]
Peroxisomal multifunctional enzyme type 2 (3R)-hydroxyacyl-CoA dehydrogenase Enoyl-CoA hydratase 2
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Lyases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001649 [osteoblast differentiation]
GO:0003857 [3-hydroxyacyl-CoA dehydrogenase activity]
GO:0005102 [receptor binding]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
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:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016508 [long-chain-enoyl-CoA hydratase activity]
GO:0016853 [isomerase activity]
GO:0033540 [fatty acid beta-oxidation using acyl-CoA oxidase]
GO:0033559 [unsaturated fatty acid metabolic process]
GO:0033989 [3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity]
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:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0044594 [17-beta-hydroxysteroid dehydrogenase (NAD+) activity]
GO:0055114 [oxidation-reduction process]
Show all
 718 aa
77.9 kDa 		No 0
HSD17B4-003
ENSP00000420914
ENST00000504811
P51659 [Direct mapping]
Peroxisomal multifunctional enzyme type 2 (3R)-hydroxyacyl-CoA dehydrogenase Enoyl-CoA hydratase 2
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Lyases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000038 [very long-chain fatty acid metabolic process]
GO:0001649 [osteoblast differentiation]
GO:0003857 [3-hydroxyacyl-CoA dehydrogenase activity]
GO:0005102 [receptor binding]
GO:0005739 [mitochondrion]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
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:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016508 [long-chain-enoyl-CoA hydratase activity]
GO:0016853 [isomerase activity]
GO:0033540 [fatty acid beta-oxidation using acyl-CoA oxidase]
GO:0033559 [unsaturated fatty acid metabolic process]
GO:0033989 [3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity]
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:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0044594 [17-beta-hydroxysteroid dehydrogenase (NAD+) activity]
GO:0055114 [oxidation-reduction process]
GO:0060009 [Sertoli cell development]
Show all
 761 aa
83 kDa 		No 0
HSD17B4-004
ENSP00000411960
ENST00000414835
G5E9S2 [Direct mapping]
Hydroxysteroid (17-beta) dehydrogenase 4, isoform CRA_a; Peroxisomal multifunctional enzyme type 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055114 [oxidation-reduction process]
Show all
 596 aa
64.6 kDa 		No 0
HSD17B4-005
ENSP00000424940
ENST00000510025
E7EWE5 [Direct mapping]
Peroxisomal multifunctional enzyme type 2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055114 [oxidation-reduction process]
Show all
 712 aa
77.6 kDa 		No 0
HSD17B4-006
ENSP00000426272
ENST00000509514
E7EPL9 [Direct mapping]
Peroxisomal multifunctional enzyme type 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 474 aa
51 kDa 		No 0
HSD17B4-007
ENSP00000425993
ENST00000513628
E7ET17 [Direct mapping]
Peroxisomal multifunctional enzyme type 2
Show all
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055114 [oxidation-reduction process]
Show all
 599 aa
65 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.