Gene Gene information from NCBI Gene database.
Entrez ID 652968
Gene name Cytosolic arginine sensor for mTORC1 subunit 1
Gene symbol CASTOR1
Synonyms (NCBI Gene)
GATSL3
Chromosome 22
Chromosome location 22q12.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26972053, 28514442, 30956113, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IDA 26972053
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617034 34423 ENSG00000239282
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WTX7
Protein name Cytosolic arginine sensor for mTORC1 subunit 1 (Cellular arginine sensor for mTORC1 protein 1) (GATS-like protein 3)
Protein function Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway (PubMed:26972053, PubMed:27487210, PubMed:33594058). As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR sub
PDB 5GS9 , 5GT7 , 5GT8 , 5GV2 , 5I2C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18700 Castor1_N 9 69 Cytosolic arginine sensor for mTORC1 subunit 1 N-terminal domain Domain
PF13840 ACT_7 71 139 ACT domain Domain
PF13840 ACT_7 258 322 ACT domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000303|PubMed:26972053}.
Sequence
MELHILEHRVRVLSVARPGLWLYTHPLIKLLFLPRRSRCKFFSLTETPEDYTLMVDEEGF
KELPPSEFL
QVAEATWLVLNVSSHSGAAVQAAGVTKIARSVIAPLAEHHVSVLMLSTYQT
DFILVREQDLSVVIHTLAQ
EFDIYREVGGEPVPVTRDDSSNGFPRTQHGPSPTVHPIQSP
QNRFCVLTLDPETLPAIATTLIDVLFYSHSTPKEAASSSPEPSSITFFAFSLIEGYISIV
MDAETQKKFPSDLLLTSSSGELWRMVRIGGQPLGFDECGIVAQIAGPLAAADISAYYIST
FNFDHALVPEDGIGSVIEVLQR
RQEGLAS
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway   Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinogenesis Associate 31305263
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 31305263
★☆☆☆☆
Found in Text Mining only