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MIRAGE
hydroxysteroid 17-beta dehydrogenase 4
Summary
- Gene Symbol
-
- HSD17B4
- Aliases
-
- 17-beta-HSD IV
- 17-beta-hydroxysteroid dehydrogenase 4
- 17beta-estradiol dehydrogenase type IV
- 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
- D-3-hydroxyacyl-CoA dehydratase
- D-bifunctional protein, peroxisomal
- DBP
- MFE-2
- SDR8C1
- beta-hydroxyacyl dehydrogenase
- beta-keto-reductase
- peroxisomal multifunctional protein 2
- short chain dehydrogenase/reductase family 8C, member 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Deafness
- Direct protein sequencing
- Disease variant
- Fatty acid metabolism
- Isomerase
- Lyase
- NAD
- Oxidoreductase
- Peroxisome
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| B3KSP2 |
|
| B2R659 |
|
| A0A0S2Z4J1 |
|
| P51659 |
|
| E7ET17 |
|
| A0A804HK65 |
|
| A0A2R8Y7L2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| very long-chain fatty acid metabolic process |
|
|
| osteoblast differentiation | ||
| fatty acid biosynthetic process | ||
| fatty acid beta-oxidation | ||
| fatty acid beta-oxidation |
GO Hierarchy
biological process
cellular process [inference]
metabolic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| peroxisome | ||
| peroxisome | ||
| peroxisome | ||
| peroxisome | ||
| peroxisomal membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity | ||
| enoyl-CoA hydratase activity | ||
| estradiol 17-beta-dehydrogenase [NAD(P)+] activity | ||
| oxidoreductase activity |
|
|
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- dehydrogenase
- Functional Category
-
- I: Lipid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| fatty acid beta-oxidation |
| lipid metabolic process |
| oxidoreductase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050857 | Perrault syndrome | |
| DOID:0090031 | D-bifunctional protein deficiency | |
| DOID:13366 | Stiff-Person syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000107 | Renal cyst |
| HP:0000133 | Gonadal dysgenesis |
| HP:0000218 | High palate |
| HP:0000239 | Large fontanelles |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| Disease ID | Disease Name |
|---|---|
| OMIM:233400 |
|
| OMIM:261515 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000062
- Gene Name
- hydroxysteroid (17-beta) dehydrogenase 4
