SAR1B
Small COPII coat GTPase SAR1B
Also known as: SAR1B_HUMAN, SARA2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y6B6
- Gene
- SAR1B
- Ensembl
- ENSG00000152700
- Chromosome
- 5
- Canonical length
- 198 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Endoplasmic reticulum
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
198 residues, UniProt reviewed canonical sequence.
>Q9Y6B6|SAR1B
1 MSFIFDWIYS GFSSVLQFLG LYKKTGKLVF LGLDNAGKTT LLHMLKDDRL GQHVPTLHPT
61 SEELTIAGMT FTTFDLGGHV QARRVWKNYL PAINGIVFLV DCADHERLLE SKEELDSLMT
121 DETIANVPIL ILGNKIDRPE AISEERLREM FGLYGQTTGK GSISLKELNA RPLEVFMCSV
181 LKRQGYGEGF RWMAQYIDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SAR1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 153 nTPM
Expression across tissuesHPA
Tissue
- liver: 153 nTPM
- skeletal muscle: 137 nTPM
- tongue: 131 nTPM
- small intestine: 65 nTPM
- duodenum: 64 nTPM
- testis: 61 nTPM
Single-cell type
- early spermatids: 438 nCPM
- late primary spermatocytes: 397 nCPM
- esophageal apical cells: 337 nCPM
- hepatocytes: 334 nCPM
- breast lactating cells: 269 nCPM
- enterocytes: 257 nCPM
Immune cell
- non-classical monocyte: 81 nTPM
- T-reg: 77 nTPM
- total PBMC: 72 nTPM
- intermediate monocyte: 71 nTPM
- classical monocyte: 71 nTPM
- myeloid DC: 64 nTPM
Brain region
- white matter: 109 nTPM
- medulla oblongata: 93 nTPM
- cerebellum: 85 nTPM
- choroid plexus: 85 nTPM
- spinal cord: 85 nTPM
- midbrain: 84 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SAR1B.
Disease | AllUniProt
Conditions SAR1B is implicated in, by any mechanism.
- Chylomicron retention disease (CMRD) MIM:246700
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 197 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Chylomicron retention disease
- Inborn genetic diseases
- SAR1B-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.99
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.81
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- antigen processing and presentation of peptide antigen via MHC class I
- cellular response to leucine starvation
- COPII vesicle coating
- COPII-coated vesicle cargo loading
- endoplasmic reticulum to Golgi vesicle-mediated transport
- intracellular protein transport
- lipid export from cell
- lipid homeostasis
- lipoprotein transport
- membrane organization
- negative regulation of TORC1 signaling
- regulation of COPII vesicle coating
- regulation of lipid transport
- regulation of TORC1 signaling
- vesicle organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SAR1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SAR1B as an antibody target. Whether an autoantibody or antibody against SAR1B could matter depends on whether native SAR1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SAR1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SAR1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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