Gene Gene information from NCBI Gene database.
Entrez ID 27240
Gene name Signaling threshold regulating transmembrane adaptor 1
Gene symbol SIT1
Synonyms (NCBI Gene)
SITSIT-R
Chromosome 9
Chromosome location 9p13.3
miRNA miRNA information provided by mirtarbase database.
163
miRTarBase ID miRNA Experiments Reference
MIRT724562 hsa-miR-3145-5p HITS-CLIP 19536157
MIRT724561 hsa-miR-7113-5p HITS-CLIP 19536157
MIRT724560 hsa-miR-4685-5p HITS-CLIP 19536157
MIRT724559 hsa-miR-6837-5p HITS-CLIP 19536157
MIRT649943 hsa-miR-5193 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 10209036, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 10209036, 11390434
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604964 17710 ENSG00000137078
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3P8
Protein name Signaling threshold-regulating transmembrane adapter 1 (SHP2-interacting transmembrane adapter protein) (Suppression-inducing transmembrane adapter 1) (gp30/40)
Protein function Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in T- and B-cells. Present in plasma cells but not in germinal center B-cells (at protein level). Expressed in T- and B-cell lymphoma. {ECO:0000269|PubMed:10209036, ECO:0000269|PubMed:16160011}.
Sequence
MNQADPRLRAVCLWTLTSAAMSRGDNCTDLLALGIPSITQAWGLWVLLGAVTLLFLISLA
AHLSQWTRGRSRSHPGQGRSGESVEEVPLYGNLHYLQTGRLSQDPEPDQQDPTLGGPARA
AEEVMCYTSLQLRPPQGRIPGPGTPVKYSEVVLDSEPKSQASGPEPELYASVCAQTRRAR
ASFPDQAYANSQPAAS
Sequence length 196
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations