Entity Details
| Primary name |
SAR1B_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9Y6B6 |
| EntryName | SAR1B_HUMAN |
| FullName | GTP-binding protein SAR1b |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 198 |
| SequenceStatus | complete |
| DateCreated | 2001-06-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
| Golgi apparatus |
Domains
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| Domain | Name | Category | Type |
| IPR005225 | Small GTP-binding protein domain | Domain | Domain |
| IPR006687 | Small GTPase superfamily, SAR1-type | Family | Family |
| IPR006689 | Small GTPase superfamily, ARF/SAR type | Family | Family |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 246700 | OMIM | Chylomicron retention disease (CMRD) | An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB04315 | Guanosine-5'-Diphosphate | Drugbank | small molecule |
Interactions
4 interactions