SAR1A
protein-codingsecretion associated Ras related GTPase 1A, the group of COPII coat complex|ARF GTPase family
Gene summary
Enables G protein activity and amino acid sensor activity. Involved in COPII-coated vesicle budding; cellular response to leucine starvation; and negative regulation of TORC1 signaling. Located in endoplasmic reticulum. Is active in COPII vesicle coat; endoplasmic reticulum exit site; and lysosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]
- SARA1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~23.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SAR1A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020150.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 11 | 1 | 12 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 15 | 1 | 0 | 16 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_064535.1 | 6 | MANE Select | |
| Ensembl | ENSP00000362338.4 | 6 | MANE Select | |
| RefSeq | NP_001136120.1 | 6 | Standard | |
| Ensembl | ENSP00000362333.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Legionellosis - Homo sapiens (human)
- Protein processing in endoplasmic reticulum - Homo sapiens (human)
- Sterol Regulatory Element-Binding Proteins (SREBP) signalling
- tgf beta signaling pathway
Biological Process
- regulation of COPII vesicle coating
- intracellular protein transport
- endoplasmic reticulum to Golgi vesicle-mediated transport
- vesicle organization
- membrane organization
Molecular Function
- GTPase activity
- protein binding
- GTP binding
Cellular Component
- Golgi membrane
- endoplasmic reticulum
- COPII vesicle coat
- endoplasmic reticulum exit site
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000373242
- Coding exons
- 6
- Length
- 23235
- Individuals with no LoFs
- 125448
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 14
- Defined
- 125462
- p
- 0.0000558
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.09 | 51 | 114 | 0.448 | 0.00000625 | 1301 |
| Missense (PolyPhen) | 8 | 36.07 | 0.22179 | 455 | ||
| Synonymous | 1.51 | 27 | 39.0 | 0.692 | 0.00000211 | 371 |
| Loss of Function | 2.16 | 2 | 9.01 | 0.222 | 3.77e-7 | 119 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00060 | 0.00041 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES). {ECO:0000250, ECO:0000269|PubMed:17005010}.;
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- LoFtool
- 0.185
- RVIS EVS
- -0.03
- RVIS percentile EVS
- 51.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.307
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |