SAR1B (secretion associated Ras related GTPase 1B)

2016-10-01  

Identity

HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
ANDD,CMRD,GTBPB,SARA2
FUSION GENES

Other Information

Locus ID:

NCBI: 51128
MIM: 607690
HGNC: 10535
Ensembl: ENSG00000152700

Variants:

dbSNP: 51128
ClinVar: 51128
TCGA: ENSG00000152700
COSMIC: SAR1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152700ENST00000402673Q9Y6B6
ENSG00000152700ENST00000439578Q9Y6B6
ENSG00000152700ENST00000502286D6RAA2
ENSG00000152700ENST00000502539Q9H029
ENSG00000152700ENST00000503318D6RDB2
ENSG00000152700ENST00000505758D6RD69
ENSG00000152700ENST00000507419Q9H029
ENSG00000152700ENST00000509730D6R9R5
ENSG00000152700ENST00000509937Q9H029

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
COPII complexKEGGhsa_M00404
LegionellosisKEGGko05134
LegionellosisKEGGhsa05134
COPII complexKEGGM00404
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Cargo concentration in the ERREACTOMER-HSA-5694530

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
126925522003Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.93
179455262008Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.24
229749792012Modulation of membrane rigidity by the human vesicle trafficking proteins Sar1A and Sar1B.17
218360652011Expression of Sar1b enhances chylomicron assembly and key components of the coat protein complex II system driving vesicle budding.13
187861342008Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.12
243384802014The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis.10
198461722010Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.8
289826702017Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture.8
159439092005Expression of Sara2 human gene in erythroid progenitors.5
258267772015New Insights In Intestinal Sar1B GTPase Regulation and Role in Cholesterol Homeostasis.5

Citation

Dessen P

SAR1B (secretion associated Ras related GTPase 1B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56436/sar1b