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