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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:2452 | thrombophilia | |
| DOID:2481 | obsolete infantile epileptic encephalopathy | |
| DOID:2723 | dermatitis | |
| DOID:2725 | capillary hemangioma | |
| DOID:2732 | Rothmund-Thomson syndrome | |
| DOID:2786 | cerebellar disease | |
| DOID:3144 | cutis laxa | |
| DOID:3390 | palmoplantar keratosis | |
| DOID:3755 | antithrombin III deficiency | |
| DOID:3756 | protein C deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010864 | Intellectual disability, severe |
| HP:0012443 | Abnormal brain morphology |
| HP:0012471 | Thick vermilion border |
| HP:0030680 | Abnormal cardiovascular system morphology |
| 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 |
|---|---|---|---|
| 179438 | WB:WBGene00007102 | ||
| 34136 | FB:FBgn0032014 | ||
| 100181505 | CIOIN05096 | ||
| 102363132 | LATCH09739 | ||
| 560717 | ZFIN:ZDB-GENE-030131-7915 | DANRE19475 | |
| 103045498 | ASTMX11111 | ||
| 108258126 | ICTPU20131 | ||
| 113586386 | ELEEL36915 | ||
| 106584121 | SALSA84800 | ||
| 115192382 | SALTR28684 |
