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
386877992024Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.1
386877992024Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.1
331865572021Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.41
342904092021SAR1B senses leucine levels to regulate mTORC1 signalling.66
331865572021Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.41
342904092021SAR1B senses leucine levels to regulate mTORC1 signalling.66
323580662020Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.13
323580662020Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.13
306408932019Chylomicron retention disease: genetics, biochemistry, and clinical spectrum.15
307825612019Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.3
314097402019SAR1B GTPase is necessary to protect intestinal cells from disorders of lipid homeostasis, oxidative stress, and inflammation.23
306408932019Chylomicron retention disease: genetics, biochemistry, and clinical spectrum.15
307825612019Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.3
314097402019SAR1B GTPase is necessary to protect intestinal cells from disorders of lipid homeostasis, oxidative stress, and inflammation.23
295401752018Complex genetic architecture in severe hypobetalipoproteinemia.6

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-(secretion-associated-ras-related-gtpase-1b)