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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SARS1
seryl-tRNA synthetase 1
Chromosome 1 Β· 1p13.3
NCBI Gene: 6301Ensembl: ENSG00000031698.13HGNC: HGNC:10537UniProt: P49591
121PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tRNA C3-cytosine methylationextracellular exosomeRNA polymerase II cis-regulatory region sequence-specific DNA bindingcytoplasmneurodevelopmental disorder with microcephaly, ataxia, and seizuresautosomal recessive primary microcephalyautosomal recessive non-syndromic intellectual disabilityCerebral arteriovenous malformation
✦AI Summary

SARS1 (seryl-tRNA synthetase 1) is a dual-function enzyme with critical roles in both translation and transcriptional regulation. Primarily, SARS1 catalyzes aminoacylation of tRNA(Ser) through a two-step reaction: serine activation by ATP to form Ser-AMP, followed by transfer to the acceptor end of tRNA(Ser) 1. SARS1 also aminoacylates tRNA(Sec) with serine, generating a precursor for selenocysteinyl-tRNA(Sec) synthesis 1. Beyond translation, SARS1 functions as a nuclear transcriptional regulator, binding the VEGFA promoter and preventing MYC-mediated transcriptional activation, thereby inhibiting angiogenesis 2. This nuclear-localized activity is modulated by post-translational modifications: phosphorylation diminishes VEGFA promoter binding under hypoxia, while glycosylation reduces nuclear localization under nutrient stress 2. Clinically, biallelic SARS1 variants cause autosomal recessive neurodevelopmental disorders characterized by microcephaly, developmental delay, intellectual disability, and brain anomalies 3. A de novo splice site deletion produces a loss-of-function dominant negative effect, inducing cellular senescence and growth arrest 1. Additionally, SARS1 is significantly overexpressed in head and neck squamous cell carcinoma, where it promotes tumor progression via PI3K-AKT pathway activation and correlates with poor prognosis 4. These pleiotropic functions establish SARS1 as both a disease-relevant therapeutic target and a cellular hub protein.

Sources cited
1
SARS1 catalyzes aminoacylation of tRNA(Ser) and tRNA(Sec); de novo splice site deletion causes loss-of-function dominant negative effect with cellular senescence
PMID: 36041817
2
SARS1 acts as nuclear transcriptional regulator binding VEGFA promoter; phosphorylation under hypoxia and glycosylation under nutrient stress modulate its activity
PMID: 38255739
3
Biallelic missense variants in SARS1 cause autosomal recessive neurodevelopmental disorder with microcephaly, developmental delay, intellectual disability, and brain anomalies
PMID: 35790048
4
SARS1 is overexpressed in head and neck squamous cell carcinoma, promotes tumor progression via PI3K-AKT pathway, and associates with poor overall, disease-specific, and progression-free survival
PMID: 40614468
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
neurodevelopmental disorder with microcephaly, ataxia, and seizuresOpen Targets
0.67Moderate
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
autosomal recessive primary microcephalyOpen Targets
0.37Weak
Cerebral arteriovenous malformationOpen Targets
0.34Weak
hereditary peripheral neuropathyOpen Targets
0.12Weak
breast cancerOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
lymph node metastatic carcinomaOpen Targets
0.04Suggestive
iridocorneal endothelial syndromeOpen Targets
0.04Suggestive
X-linked intellectual disability-retinitis pigmentosa syndromeOpen Targets
0.04Suggestive
Tietz syndromeOpen Targets
0.04Suggestive
islet cell adenomatosisOpen Targets
0.04Suggestive
Griscelli diseaseOpen Targets
0.04Suggestive
Griscelli disease type 3Open Targets
0.04Suggestive
Griscelli syndrome type 3Open Targets
0.04Suggestive
isolated ectopia lentisOpen Targets
0.03Suggestive
Waardenburg syndrome type 4BOpen Targets
0.03Suggestive
Waardenburg syndrome, IIa 2FOpen Targets
0.03Suggestive
Neurodevelopmental disorder with microcephaly, ataxia, and seizuresUniProt
Pathogenic Variants3
NM_006513.4(SARS1):c.1483GCA[4] (p.Ala497_Arg498insAla)Likely pathogenic
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 497
NM_006513.4(SARS1):c.447+1G>ALikely pathogenic
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
β˜…β˜†β˜†β˜†2025
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)Pathogenic
Cerebral arteriovenous malformation
β˜…β˜†β˜†β˜†2018β†’ Residue 324
View on ClinVar β†—
Related Genes
TRRAPProtein interaction100%TADA2AProtein interaction100%TAF9Protein interaction100%SGF29Protein interaction100%TAF10Protein interaction100%SUPT3HProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
73%
Heart
55%
Liver
54%
Ovary
46%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
SARS1TRRAPTADA2ATAF9SGF29TAF10SUPT3H
PROTEIN STRUCTURE
Preparing viewer…
PDB8P7B Β· 2.42 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.41Tolerant
Observed/Expected LoF0.40 [0.29–0.57]
RankingsWhere SARS1 stands among ~20K protein-coding genes
  • #3,897of 20,598
    Most Researched121 Β· top quartile
  • #3,972of 5,498
    Most Pathogenic Variants3
  • #3,747of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedSARS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
PMID: 35790048
Hum Mutat Β· 2022
1.00
2
The Role of SARS1 in Head and Neck Squamous Cell Carcinoma and its Potential as a Diagnostic and Prognostic Biomarker.
PMID: 40614468
Int Dent J Β· 2025
0.90
3
Consensus transcriptional regulatory networks of coronavirus-infected human cells.
PMID: 32963239
Sci Data Β· 2020
0.80
4
Loss of seryl-tRNA synthetase (
PMID: 36041817
J Med Genet Β· 2022
0.70
5
Recent advances in influenza vaccines.
PMID: 32399192
F1000Res Β· 2020
0.60