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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 for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LAT (Linker For Activation Of T Cells) is a Protein Coding gene. Diseases associated with LAT include Immunodeficiency 52 and Inflamed Seborrheic Keratosis. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SH3/SH2 adaptor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005070 | SH3/SH2 adaptor activity | IDA | -- |
GO:0005515 | protein binding | IPI | 9489702 |
GO:0019901 | protein kinase binding | IBA,IPI | 12186560 |
GO:0030159 | receptor signaling complex scaffold activity | IDA | 9489702 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001772 | immunological synapse | IBA,IDA | 12646565 |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005911 | cell-cell junction | IEA | -- |
GO:0008180 | COP9 signalosome | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | T cell receptor signaling pathway | ||
3 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
|
4 | Immune response NFAT in immune response |
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
|
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
|
5 | Immune response Fc epsilon RI pathway |
Immune response Fc epsilon RI pathway
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002260 | lymphocyte homeostasis | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006954 | inflammatory response | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Epinephrine | Approved, Vet_approved | Pharma | 1364 | |||
Lidocaine | Approved, Vet_approved | Pharma | Pore Blocker, Antagonist | Anasthetic and class Ib antiarrhythmic agent | 2111 | |
Racepinephrine | Approved | Pharma | 1364 | |||
Tetracaine | Approved, Vet_approved | Pharma | 106 | |||
(2S)-1-methyl-2-[(2S,4R)-2-methyl-4-phenylpentyl]piperidine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LAT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LAT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lat 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lat 30 |
|
||
Cow (Bos Taurus) |
Mammalia | LAT 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LAT 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636650 | Likely Pathogenic: not provided | 28,985,490(+) | CTGTG/C | FRAMESHIFT_VARIANT | |
735030 | Likely Benign: not provided | 28,986,216(+) | C/T | MISSENSE_VARIANT | |
746298 | Likely Benign: not provided | 28,989,546(+) | C/T | SYNONYMOUS_VARIANT | |
777001 | Benign: not provided | 28,985,404(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs1555524788 | Pathogenic: Immunodeficiency 52 | 28,985,460(+) | C/CT | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2830n100 | CNV | gain | 25217958 |
dgv2831n100 | CNV | gain | 25217958 |
dgv4987n54 | CNV | gain | 21841781 |
esv2750677 | CNV | loss | 17666407 |
esv2758640 | CNV | gain+loss | 17122850 |
esv3570454 | CNV | gain | 25503493 |
esv3638351 | CNV | gain | 21293372 |
esv3892826 | CNV | gain+loss | 25118596 |
nsv1059555 | CNV | gain | 25217958 |
nsv457480 | CNV | gain | 19166990 |
nsv518648 | CNV | loss | 19592680 |
nsv519100 | CNV | gain | 19592680 |
nsv571805 | CNV | loss | 21841781 |
nsv571808 | CNV | gain | 21841781 |
nsv952964 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 52 |
|
|
inflamed seborrheic keratosis |
|
|
severe combined immunodeficiency |
|
|
lymphopenia |
|
|
periodic fever, familial, autosomal dominant |
|
|