Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27040
Gene name Gene Name - the full gene name approved by the HGNC.
Linker for activation of T cells
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAT
Synonyms (NCBI Gene) Gene synonyms aliases
IMD52, LAT1, pp36
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs781410769 GGG>-,G Pathogenic Coding sequence variant, inframe deletion, frameshift variant
rs1363494222 TGTG>-,TGTGTGTG Likely-pathogenic Coding sequence variant, frameshift variant
rs1555524788 ->T Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1105128 hsa-miR-1225-3p CLIP-seq
MIRT1105129 hsa-miR-1233 CLIP-seq
MIRT1105130 hsa-miR-2392 CLIP-seq
MIRT1105131 hsa-miR-3605-5p CLIP-seq
MIRT1105132 hsa-miR-3943 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IBA
GO:0001772 Component Immunological synapse IDA 12646565
GO:0001772 Component Immunological synapse IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002260 Process Lymphocyte homeostasis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602354 18874 ENSG00000213658
Protein
UniProt ID O43561
Protein name Linker for activation of T-cells family member 1 (36 kDa phosphotyrosine adapter protein) (pp36) (p36-38)
Protein function Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development (PubMed:23514740, PubMed:25907557). Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-medi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15234 LAT 1 262 Linker for activation of T-cells Family
Tissue specificity TISSUE SPECIFICITY: Expressed in thymus, T-cells, NK cells, mast cells and, at lower levels, in spleen. Present in T-cells but not B-cells (at protein level). {ECO:0000269|PubMed:16160011, ECO:0000269|PubMed:9489702}.
Sequence
Sequence length 262
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ras signaling pathway
Rap1 signaling pathway
NF-kappa B signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Yersinia infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
  GPVI-mediated activation cascade
Generation of second messenger molecules
DAP12 signaling
Fc epsilon receptor (FCERI) signaling
FCERI mediated MAPK activation
FCERI mediated Ca+2 mobilization
RAF/MAP kinase cascade
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Severe combined immunodeficiency disease severe combined immunodeficiency due to lat deficiency rs781410769, rs1555524788 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24694899
Alzheimer Disease Associate 31455413
Arthritis Juvenile Associate 36362342
Autoimmune Diseases Associate 27242165
Breast Neoplasms Associate 35381768
Drug Hypersensitivity Associate 29679657
GATA2 Deficiency Associate 10233842
Hematologic Diseases Associate 10233842
Immunoglobulin G4 Related Disease Associate 27242165
Leukemia Inhibit 15549729