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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SAR1A
secretion associated Ras related GTPase 1A
Chromosome 10 · 10q22.1
NCBI Gene: 56681Ensembl: ENSG00000079332.17HGNC: HGNC:10534UniProt: Q5SQT9
126PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipoprotein transportprotein bindingamino acid sensor activityendoplasmic reticulum to Golgi vesicle-mediated transportosteomyelitisosteosarcomarenal cell carcinomahead and neck squamous cell carcinoma
✦AI Summary

SAR1A is a small GTPase that functions primarily in endoplasmic reticulum (ER) to Golgi vesicle-mediated protein transport. The GTP-bound active form inserts into the ER membrane and recruits coat protein complex II (COPII) components, initiating vesicle budding and cargo sorting 1. SAR1A works alongside SEC16A to organize ER exit sites (ERES), specialized membrane domains where COPII-coated vesicles form. By regulating GTPase-dependent timing of COPII assembly, SAR1A controls vesicle size and cargo selection 2. Beyond its canonical secretory pathway role, SAR1A functions as a leucine sensor regulating mTORC1 signaling independent of its GTPase activity 3. Under leucine deficiency, SAR1A binds GATOR2 to inhibit mTORC1; leucine binding triggers conformational change and dissociation, permitting mTORC1 activation. Additionally, SAR1A regulates STING trafficking during innate immune responses through K27-linked oligo-ubiquitination, facilitating STING-COPII complex assembly for ER-Golgi transport and Type I interferon production 4. Clinical relevance includes SAR1A's role in osteosarcoma metastasis through RhoA/YAP pathway regulation and autophagy modulation 5, cardiac sodium channel trafficking 2, and lung cancer development via circRNA mechanisms 6. SAR1A shows functional overlap with its paralog SAR1B; genetic studies demonstrate SAR1A upregulation could therapeutically compensate for SAR1B deficiency-related chylomicron retention disease 1.

Sources cited
1
SAR1A initiates COPII coat assembly, genetic inactivation causes embryonic lethality, demonstrates functional overlap with SAR1B, and upregulation could treat SAR1B deficiency
PMID: 38687799
2
SAR1B (and by extension SAR1A) functions as a leucine sensor regulating mTORC1 signaling independent of GTPase activity through GATOR2 interaction
PMID: 34290409
3
SAR1A and SAR1B regulate cardiac sodium channel Nav1.5 trafficking through ER exit and interact with MOG1
PMID: 30251687
4
SAR1A requires K27-linked oligo-ubiquitination to assemble STING-COPII transport complex for STING trafficking and Type I interferon production
PMID: 39976106
5
SAR1A regulates osteosarcoma metastasis through RhoA/YAP pathway and autophagy signaling, with upregulation correlating with poor survival
PMID: 36047971
6
Circular SAR1A RNA functions as tumor suppressor in lung cancer, regulating malignant behavior through miR-21-5p/TXNIP axis
PMID: 35334496
Disease Associationsⓘ20
osteomyelitisOpen Targets
0.10Suggestive
osteosarcomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
biliary tract diseaseOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
systemic sclerodermaOpen Targets
0.04Suggestive
chylomicron retention diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
diaphragm diseaseOpen Targets
0.03Suggestive
Schnyder corneal dystrophyOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
mastitisOpen Targets
0.01Suggestive
endocarditisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEF1Protein interaction99%KLHL12Protein interaction97%TMED7Protein interaction92%SEC22BProtein interaction88%SEC16BProtein interaction87%LMAN1Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
66%
Brain
62%
Heart
56%
Liver
49%
Ovary
44%
Gene Interaction Network
Click a node to explore
SAR1APEF1KLHL12TMED7SEC22BSEC16BLMAN1
PROTEIN STRUCTURE
Preparing viewer…
PDB8DZM · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.24]
RankingsWhere SAR1A stands among ~20K protein-coding genes
  • #3,744of 20,598
    Most Researched126 · top quartile
  • #724of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedSAR1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autophagy induction via STING trafficking is a primordial function of the cGAS pathway.
PMID: 30842662
Nature · 2019
1.00
2
SAR1B senses leucine levels to regulate mTORC1 signalling.
PMID: 34290409
Nature · 2021
0.90
3
Functional overlap between the mammalian
PMID: 38687799
Proc Natl Acad Sci U S A · 2024
0.80
4
SAR1A regulates the RhoA/YAP and autophagy signaling pathways to influence osteosarcoma invasion and metastasis.
PMID: 36047971
Cancer Sci · 2022
0.70
5
Small GTPases SAR1A and SAR1B regulate the trafficking of the cardiac sodium channel Na
PMID: 30251687
Biochim Biophys Acta Mol Basis Dis · 2018
0.60