RBCC Red Blood Cell Collection

SAR1B_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SAR1B , SARA2, SARB
Protein names and data: SAR1B_HUMAN , GTP-binding protein SAR1b , GTP-binding protein B; GTBPB Lenght: 198 a.a.
Mass: 22410 Da
fasta formatted sequence
Function: Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.
Disease: ( OMIM: 246700 607690 ) Chylomicron retention disease (CMRD) [MIM:246700]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Golgi apparatus, Golgi stack membrane; Peripheral membrane protein (By similarity). Note=Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region (By similarity).
Tissue specificity: Expressed in many tissues including small intestine, liver, muscle and brain.

Genetic variants

11 - 11 G -> D (in CMRD). VAR_059051
37 - 37 G -> R (in CMRD; loss of GDP/GTP- binding). VAR_016806
75 - 75 D -> G (in CMRD). VAR_059052
137 - 137 D -> N (in CMRD; reduced affinity for GDP/GTP; dbSNP:rs28942109). VAR_016807 28942109
179 - 179 S -> R (in CMRD; loss of GDP/GTP-binding; dbSNP:rs28942110). VAR_016808 28942110

Database cross-references

UniProt: Q9Y6B6
Ensembl: ENST00000402673
Ensembl: ENST00000439578
MIM: 246700
MIM: 607690
neXtProt: NX_Q9Y6B6
Antibodypedia: Q9Y6B6 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2