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steroid 5 alpha-reductase 3
Summary
- Gene Symbol
-
- SRD5A3
- Aliases
-
- 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
- FLJ13352
- SRD5A2L
- SRD5A2L1
- polyprenol reductase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cataract
- Congenital disorder of glycosylation
- Endoplasmic reticulum
- Intellectual disability
- Lipid metabolism
- NADP
- Oxidoreductase
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H8P0 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| dolichyl diphosphate biosynthetic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
| polyprenol reductase activity | ||
| 3-oxo-5-alpha-steroid 4-dehydrogenase activity | ||
| 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
| DOID:0050429 | Hailey-Hailey disease | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0050807 | Kahrizi syndrome | |
| DOID:0060320 | inguinal hernia | |
| DOID:0060762 | restrictive dermopathy | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060862 | mal de Meleda |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000962 | Hyperkeratosis |
| HP:0000964 | Eczematoid dermatitis |
| HP:0000973 | Cutis laxa |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000998 | Hypertrichosis |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| Disease ID | Disease Name |
|---|---|
| OMIM:612379 |
|
| ORPHA:324737 |
|
| OMIM:612713 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP003856
- Gene Name
- steroid 5 alpha-reductase 3
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 57357 | MGI:1930252 | MOUSE44181 | |
| 305291 | RGD:1308828 | RATNO07769 | |
| 100727041 | CAVPO11340 | ||
| 101565973 | OCTDE04394 | ||
| 100017228 | MONDO27291 | ||
| 100551938 | ANOCA07540 | ||
| 114023872 | VOMUR02575 | ||
| 113894297 | BOBOX04409 | ||
| 100962186 | OTOGA08016 | ||
| 105709293 | AOTNA14290 |
