SAR1B

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SAR1 homolog B (S. cerevisiae)
Protein SAR1B PDB 1f6b.png
PDB rendering based on 1f6b.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SAR1B ; ANDD; CMRD; GTBPB; SARA2
External IDs OMIM607690 MGI1913647 HomoloGene90905 GeneCards: SAR1B Gene
RNA expression pattern
PBB GE SAR1B 218254 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51128 66397
Ensembl ENSG00000152700 ENSMUSG00000020386
UniProt Q9Y6B6 Q9CQC9
RefSeq (mRNA) NM_001033503 NM_025535
RefSeq (protein) NP_001028675 NP_079811
Location (UCSC) Chr 5:
133.94 – 133.98 Mb
Chr 11:
51.76 – 51.79 Mb
PubMed search [1] [2]

SAR1 gene homolog B (S. cerevisiae), also known as SAR1B, is a protein which in humans is encoded by the SAR1B gene.[1][2]

Function[edit]

SAR1B belongs to the Sar1-ADP ribosylation factor family of small GTPases,[3] which govern the intracellular trafficking of proteins in coat protein (COP)-coated vesicles.[4]

Clinical significance[edit]

Mutations in the SAR1B gene are associated with chylomicron retention disease (also known as Anderson disease) which is an autosomal recessive disorder of severe fat malabsorption.[5]

References[edit]

  1. ^ "Entrez Gene: SAR1B SAR1 gene homolog B (S. cerevisiae)". 
  2. ^ He H, Dai F, Yu L, She X, Zhao Y, Jiang J, Chen X, Zhao S (2002). "Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues". Gene Expr. 10 (5–6): 231–42. PMID 12450215. 
  3. ^ Takai Y, Sasaki T, Matozaki T (January 2001). "Small GTP-binding proteins". Physiol. Rev. 81 (1): 153–208. PMID 11152757. 
  4. ^ Schekman R, Orci L (March 1996). "Coat proteins and vesicle budding". Science 271 (5255): 1526–33. doi:10.1126/science.271.5255.1526. PMID 8599108. 
  5. ^ Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nat. Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552. 

Further reading[edit]