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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:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001508 | Failure to thrive |
| HP:0001595 | Abnormal hair morphology |
| HP:0001928 | Abnormality of coagulation |
| HP:0001935 | Microcytic anemia |
| 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 |
|---|---|---|---|
| 110200149 | PHACI03073 | ||
| 101035698 | SAIBB22449 | ||
| 101958155 | ICTTR02164 | ||
| 118318277 | SCOMX04547 | ||
| 102442157 | MYOLU08363 | ||
| 117022239 | RHIFE18822 | ||
| 100224163 | TAEGU23558 | ||
| 103235668 | CHLSB16369 | ||
| 108531594 | RHIBE04210 | ||
| 104662017 | RHIRO35627 |
