AlphaFold predicted structure
LAT · O43561
Mean pLDDT
59.3/ 100
Low
262 residues
Confidence breakdown
- Very high(≥ 90)6%
- Confident(70–90)12%
- Low(50–70)56%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LAT
Chr 16p11.2linker for activation of T cells
- Aliases:
- LAT1
- MANE:
- ENST00000395456.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
severe combined immunodeficiency due to LAT deficiency
0.70sarcoidosis
0.40autoimmune disorder of central nervous system
0.19Alzheimer disease
0.19sinusitis
0.12liver disorder
0.10neoplasm
0.10breast cancer
0.10breast carcinoma
0.09colorectal carcinoma
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Linker for activation of T-cells family member 1
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)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeletal reorganization through the recruitment of PLCG1, GRB2, GRAP2, and other signaling molecules