Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IMD52
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

Show/Hide all(3)

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

Show/Hide all(27)

miRTarBase ID	miRNA	Experiments
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
MIRT1105133	hsa-miR-4534	CLIP-seq
MIRT1105134	hsa-miR-4663	CLIP-seq
MIRT1105135	hsa-miR-4802-5p	CLIP-seq
MIRT1105136	hsa-miR-765	CLIP-seq
MIRT2029019	hsa-miR-1234	CLIP-seq
MIRT2029020	hsa-miR-3135b	CLIP-seq
MIRT2029021	hsa-miR-3155	CLIP-seq
MIRT2029022	hsa-miR-3155b	CLIP-seq
MIRT2029023	hsa-miR-3652	CLIP-seq
MIRT2029024	hsa-miR-4430	CLIP-seq
MIRT2029025	hsa-miR-4436a	CLIP-seq
MIRT2029026	hsa-miR-4687-3p	CLIP-seq
MIRT2029027	hsa-miR-484	CLIP-seq
MIRT2259997	hsa-miR-146a	CLIP-seq
MIRT2259998	hsa-miR-146b-5p	CLIP-seq
MIRT2259999	hsa-miR-1915	CLIP-seq
MIRT2260000	hsa-miR-4269	CLIP-seq
MIRT2260001	hsa-miR-4461	CLIP-seq
MIRT2260002	hsa-miR-4652-3p	CLIP-seq
MIRT2260003	hsa-miR-4726-3p	CLIP-seq
MIRT2260004	hsa-miR-580	CLIP-seq
MIRT2260005	hsa-miR-589	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001772	Component	Immunological synapse	IBA	21873635
GO:0001772	Component	Immunological synapse	IDA	12646565
GO:0002250	Process	Adaptive immune response	IEA
GO:0005515	Function	Protein binding	IPI	9489702, 10811803, 12186560, 12646565, 12857726, 14722116, 16938345, 24642916, 24658140, 25416956, 31980649
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006955	Process	Immune response	IBA	21873635
GO:0006955	Process	Immune response	IDA	15100278
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	15100278
GO:0007265	Process	Ras protein signal transduction	IMP	12646565
GO:0008180	Component	COP9 signalosome	ISS
GO:0016021	Component	Integral component of membrane	IDA	12646565
GO:0019722	Process	Calcium-mediated signaling	IMP	12646565
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0019901	Function	Protein kinase binding	IPI	12186560
GO:0030159	Function	Signaling receptor complex adaptor activity	IDA	9489702
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IDA	12646565
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042110	Process	T cell activation	TAS	12186560
GO:0043303	Process	Mast cell degranulation	IEA
GO:0045121	Component	Membrane raft	TAS	12496963, 14722116
GO:0045860	Process	Positive regulation of protein kinase activity	IBA	21873635
GO:0045860	Process	Positive regulation of protein kinase activity	IEP	14624253
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050863	Process	Regulation of T cell activation	IBA	21873635
GO:0050863	Process	Regulation of T cell activation	IMP	12646565

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

MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPW
PPAYPPVTSYPPLSQPDLLPIPRSPQPLGGSHRTPSSRRDSDGANSVASYENEGASGIRG
AQAGWGVWGPSWTRLTPVSLPPEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAP
ALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALS
SQEAEEVEEEGAPDYENLQELN

Sequence length

262

Interactions

View interactions

	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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	11796754
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Immunodeficiency	IMMUNODEFICIENCY 52	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866 View all (256 more)	27242165, 27522155
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Severe combined immunodeficiency disease	Severe combined immunodeficiency due to LAT deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159 View all (197 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Sarcoidosis	Sarcoidosis	GWAS
Alzheimer disease	Alzheimer disease	GWAS
Atrial Fibrillation	Atrial Fibrillation	GWAS

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Lymphoma Large Cell Anaplastic	Associate	20511667
Lymphoma T Cell	Associate	27522155, 29052597, 36864087
Mast Cell Activation Disorders	Associate	35610596
Mastocytosis	Associate	10233842
Neoplasm Metastasis	Associate	35381768
Neoplasms	Associate	12351398, 35381768
Neoplasms Squamous Cell	Associate	10233842
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	16467082
Severe Combined Immunodeficiency	Associate	27242165, 27522155
Squamous Cell Carcinoma of Head and Neck	Associate	33737696
Uveomeningoencephalitic Syndrome	Associate	35003060
X Linked Combined Immunodeficiency Diseases	Associate	27242165

LAT (linker for activation of T cells)