LAT wt Allele - CISMeF

Preferred Label : LAT wt Allele;

NCIt synonyms : LAT1; Linker for Activation of T Cells wt Allele; IMD52; Linker for Activation of T Cells, Transmembrane Adaptor Gene; pp36;

NCIt definition : Human LAT wild-type allele is located in the vicinity of 16q13 and is approximately 6 kb in length. This allele, which encodes linker for activation of T-cells family member 1 protein, is involved in signaling pathways modulating immune responses and inflammation. Mutations in the gene are associated with immunodeficiency 52.;

NCI Metathesaurus CUI : CL1642503;

GenBank Accession Number : AF036905;

Details

Origin ID

C176439;

UMLS CUI

C5443868;

Automatic exact mappings (from CISMeF team)
- 5'-((N-(2-decanoylamino-3-hydroxy-3-phenylpropyloxycarbonyl)glycyl)amino)-5'-deoxyuridine [MeSH Supplementary Concept]
- Immunodeficiency 52 [OMIM Phenotype]
- PP36 [MeSH concept]
- Solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 [OMIM gene]
- immunodeficiency 52 [DO Concept]
- linker for activation of T cells [ORDO Gene]
OMIM relation
- Linker for activation of t cells [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q13 [NCIt concept]
gene_is_element_in_pathway
- Class I PI3K Signaling Pathway [NCIt concept]
- Fc Epsilon Receptor I Signaling Pathway KEGG [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Fc-Epsilon Receptor I Signaling Pathway PID [NCIt concept]
- JNK Signaling in the CD4+ TCR Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- PTPN1 Signaling Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
gene_plays_role_in_process
- Immunity [NCIt concept]
- Inflammatory Response [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- T-Cell Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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