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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0070138 | autosomal recessive cutis laxa type IIIB | |
| DOID:0070140 | autosomal recessive cutis laxa type IIC | |
| DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
| DOID:0070142 | autosomal dominant cutis laxa | |
| DOID:0080568 | congenital disorder of glycosylation Iq | |
| DOID:0110213 | isolated cleft palate | |
| DOID:0111531 | bilateral optic nerve hypoplasia | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma | |
| DOID:1059 | intellectual disability |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000248 | Brachycephaly |
| HP:0000316 | Hypertelorism |
| HP:0000329 | Facial hemangioma |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000518 | Cataract |
| 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 |
|---|---|---|---|
| 100463734 | AILME12634 | ||
| 101675597 | MUSPF03584 | ||
| 101090010 | FELCA08252 | ||
| 122218224 | PANLE26976 | ||
| 118895670 | BALMU28124 | ||
| 100059506 | HORSE30155 | ||
| 100059582 | HORSE30155 | ||
| 100525350 | PIGXX33570 | ||
| 535834 | BOVIN31500 | ||
| 102180581 | CAPHI26447 |
