SIT1 (signaling threshold regulating transmembrane adaptor 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 27240 |
| Gene name | Signaling threshold regulating transmembrane adaptor 1 |
| Gene symbol | SIT1 |
| Synonyms (NCBI Gene) |
SITSIT-R
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| Chromosome | 9 |
| Chromosome location | 9p13.3 |
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miRNA
miRNA information provided by mirtarbase database.
163
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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 |
| Sequence length | 196 |
| Interactions | View interactions |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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)
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Related Genes
Genes most often co-reported with SIT1 across shared curated disease and pathway associations.
0
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to SIT1 (see Related Genes above), that are NOT already directly curated for SIT1 itself -- a lead worth checking, not a confirmed association.
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