{ "uniprot_canonical_ac": "O43561-1", "uniprot_ac": "O43561", "uniprot_id": "LAT_HUMAN", "mass": { "chemical_mass": 27930.0, "monoisotopic_mass": 27930.0 }, "refseq": { "ac": "NP_001014987", "name": "linker for activation of T-cells family member 1 isoform b", "summary": "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, "gene_names": [ { "name": "LAT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43561", "id": "O43561" }, { "name": "IMD52; LAT1; pp36", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987", "id": "NP_001014987" }, { "name": "LAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987", "id": "NP_001014987" } ], "protein_names": [ { "name": "Linker for activation of T-cells family member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43561" }, { "name": "36 kDa phospho-tyrosine adaptor protein; linker for activation of T-cells family member 1; p36-38; 36 kDa phospho-tyrosine adapter protein; linker for activation of T cells, transmembrane adaptor; 36 kDa phosphotyrosine adapter protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987", "id": "NP_001014987" }, { "name": "36 kDa phosphotyrosine adapter protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43561" }, { "name": "linker for activation of T-cells family member 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987", "id": "NP_001014987" }, { "name": "p36-38", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43561" }, { "name": "pp36", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43561" } ], "function": [ { "annotation": "A Novel, LAT/Lck Double Deficient T Cell Subline J.CaM1.7 for Combined Analysis of Early TCR Signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, { "database": "PubMed", "id": "33562083", "url": "https://glygen.org/publication/PubMed/33562083" } ] }, { "annotation": "Identification of LAT/ZAP70 characterized immune subtypes of prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, { "database": "PubMed", "id": "36205741", "url": "https://glygen.org/publication/PubMed/36205741" } ] }, { "annotation": "L-type amino acid transporter 1 as a target for inflammatory disease and cancer immunotherapy. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, { "database": "PubMed", "id": "34924127", "url": "https://glygen.org/publication/PubMed/34924127" } ] }, { "annotation": "LAT is required for T cell activation.", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, { "database": "PubMed", "id": "9846483", "url": "https://glygen.org/publication/PubMed/9846483" } ] }, { "annotation": "Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development (PubMed:25907557, PubMed:23514740). 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.", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561#function" }, { "database": "PubMed", "id": "10072481", "url": "https://glygen.org/publication/PubMed/10072481" }, { "database": "PubMed", "id": "25907557", "url": "https://glygen.org/publication/PubMed/25907557" }, { "database": "PubMed", "id": "23514740", "url": "https://glygen.org/publication/PubMed/23514740" } ] }, { "annotation": "Retrograde and Anterograde Transport of Lat-Vesicles during the Immunological Synapse Formation: Defining the Finely-Tuned Mechanism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, { "database": "PubMed", "id": "33572370", "url": "https://glygen.org/publication/PubMed/33572370" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" } ] }, { "annotation": "The role of prolines and glycine in the transmembrane domain of LAT.", "evidence": [ { "database": "RefSeq", "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987" }, { "database": "PubMed", "id": "33458942", "url": "https://glygen.org/publication/PubMed/33458942" } ] } ], "disease": [ { "disease_id": "DOID:0111983", "recommended_name": { "id": "DOID:0111983", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111983", "name": "immunodeficiency 52", "description": "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2." }, "synonyms": [ { "id": "DOID:0111983", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111983", "name": "IMD52", "description": "" }, { "id": "DOID:0111983", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111983", "name": "severe combined immunodeficiency due to LAT deficiency", "description": "" }, { "id": "MONDO:0044721", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044721", "name": "severe combined immunodeficiency due to LAT deficiency", "description": "" }, { "id": "MONDO:0044721", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044721", "name": "SCID due to LAT deficiency", "description": "" }, { "id": "MONDO:0044721", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044721", "name": "IMD52", "description": "" }, { "id": "MONDO:0044721", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044721", "name": "immunodeficiency 52", "description": "" }, { "id": "MIM:617514", "resource": "MIM", "url": "https://www.omim.org/entry/617514", "name": "Immunodeficiency 52", "description": "Immunodeficiency 52" } ], "evidence": [ { "id": "617514", "database": "MIM", "url": "https://www.omim.org/entry/617514" } ] } ], "snv": [ { "evidence": [ { "id": "rs116866948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116866948" }, { "id": "rs116866948", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116866948" }, { "id": "rs116866948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116866948" }, { "id": "rs116866948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116866948#frequency_tab" }, { "id": "rs116866948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116866948" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "16", "chr_pos": "28986846", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367681802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367681802" }, { "id": "rs367681802", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367681802" }, { "id": "rs367681802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367681802" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 204, "end_pos": 204, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "16", "chr_pos": "28989556", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs55945024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55945024" }, { "id": "rs55945024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55945024" }, { "id": "rs55945024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs55945024#frequency_tab" }, { "id": "rs55945024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs55945024" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 37, "end_pos": 37, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "16", "chr_pos": "28985721", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D37", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 161, "end_pos": 161, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with PLCG1.", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "11368773", "url": "https://glygen.org/publication/PubMed/11368773" } ] }, { "start_pos": 200, "end_pos": 200, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with GRB2 and PIK3R1; when associated with F-220.", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "9489702", "url": "https://glygen.org/publication/PubMed/9489702" } ] }, { "start_pos": 220, "end_pos": 220, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with GRB2 and PIK3R1; when associated with F-200.", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "9489702", "url": "https://glygen.org/publication/PubMed/9489702" } ] }, { "start_pos": 26, "end_pos": 26, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces palmitoylation; abolishes localization to lipid rafts.", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "9729044", "url": "https://glygen.org/publication/PubMed/9729044" } ] }, { "start_pos": 29, "end_pos": 29, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces palmitoylation; impairs localization to lipid rafts.", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "9729044", "url": "https://glygen.org/publication/PubMed/9729044" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213658" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43561", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43561" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease 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neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 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"MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" 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"description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43561", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43561" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43561", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43561" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43561", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43561" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43561", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43561" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"NX_O43561", "url": "https://www.nextprot.org/entry/NX_O43561", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43561", "url": "https://oglcnac.org/atlas/detail/O43561", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43561", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43561", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "4640780at2759", "url": "http://www.orthodb.org/?query=4640780at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15586", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15586", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15586:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15586:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15234", "url": "http://pfam.xfam.org/family/PF15234", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43561", "url": "https://pharos.nih.gov/targets/O43561", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43561", "url": "http://purl.obolibrary.org/obo/PR_O43561", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114604", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001014987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014987", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C7C5T5", "url": "https://www.uniprot.org/uniprot/C7C5T5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C7C5T5-1", "url": "https://www.uniprot.org/uniprot/C7C5T5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQD8", "url": "https://www.uniprot.org/uniprot/H3BQD8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQD8-1", "url": "https://www.uniprot.org/uniprot/H3BQD8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43561-1", "url": "https://www.uniprot.org/uniprot/O43561-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43561-2", "url": "https://www.uniprot.org/uniprot/O43561-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43561-3", "url": "https://www.uniprot.org/uniprot/O43561-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43561-4", "url": "https://www.uniprot.org/uniprot/O43561-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43561-5", "url": "https://www.uniprot.org/uniprot/O43561-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPRSPQPLGGSHRTPSSRRDSDGANSVASYENEGASGIRGAQAGWGVWGPSWTRLTPVSLPPEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEGAPDYENLQELN", "length": 262, "header": "sp|O43561-1|LAT_HUMAN Isoform 1 of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "isoforms": [ { "isoform_ac": "C7C5T5-1", "url": "", "sequence": { "sequence": "MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPHDP", "length": 85, "header": "tr|C7C5T5-1|LAT_HUMAN Computationally mapped isoform of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28986364, "end_pos": 28985418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562701.5", "url": "https://www.ensembl.org/id/ENST00000562701.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454793.1", "url": "https://www.ensembl.org/id/ENSP00000454793.1" } ] } }, { "isoform_ac": "H3BQD8-1", "url": "", "sequence": { "sequence": "IPRSPQPLGGSHRTPSSRRDSDGANSVASYENEEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPVEAESVLEPGLPGTAELGSWKWLWGPHMASCPCSSLTTA", "length": 166, "header": "tr|H3BQD8-1|LAT_HUMAN Computationally mapped isoform of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28990304, "end_pos": 28986212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570232.2", "url": "https://www.ensembl.org/id/ENST00000570232.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000455728.1", "url": "https://www.ensembl.org/id/ENSP00000455728.1" } ] } }, { "isoform_ac": "O43561-1", "url": "", "sequence": { "sequence": "MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPRSPQPLGGSHRTPSSRRDSDGANSVASYENEGASGIRGAQAGWGVWGPSWTRLTPVSLPPEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEGAPDYENLQELN", "length": 262, "header": "sp|O43561-1|LAT_HUMAN Isoform 1 of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28990009, "end_pos": 28985418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360872.9", "url": "https://www.ensembl.org/id/ENST00000360872.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000354119.5", "url": "https://www.ensembl.org/id/ENSP00000354119.5" } ] } }, { "isoform_ac": "O43561-2", "url": "", "sequence": { "sequence": "MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPRSPQPLGGSHRTPSSRRDSDGANSVASYENEEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEGAPDYENLQELN", "length": 233, "header": "sp|O43561-2|LAT_HUMAN Isoform 2 of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28990009, "end_pos": 28985418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395456.7", "url": "https://www.ensembl.org/id/ENST00000395456.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000378841.3", "url": "https://www.ensembl.org/id/ENSP00000378841.3" } ] } }, { "isoform_ac": "O43561-3", "url": "", "sequence": { "sequence": "MEATAASWQVAVPVLGGASRPLGPRGAASLLRAPLQMEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPRSPQPLGGSHRTPSSRRDSDGANSVASYENEEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEGAPDYENLQELN", "length": 269, "header": "sp|O43561-3|LAT_HUMAN Isoform 3 of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28990009, "end_pos": 28984862, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395461.7", "url": "https://www.ensembl.org/id/ENST00000395461.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000378845.3", "url": "https://www.ensembl.org/id/ENSP00000378845.3" } ] } }, { "isoform_ac": "O43561-4", "url": "", "sequence": { "sequence": "MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPSPQPLGGSHRTPSSRRDSDGANSVASYENEEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEGAPDYENLQELN", "length": 232, "header": "sp|O43561-4|LAT_HUMAN Isoform 4 of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28990009, "end_pos": 28985418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454369.6", "url": "https://www.ensembl.org/id/ENST00000454369.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000398793.2", "url": "https://www.ensembl.org/id/ENSP00000398793.2" } ] } }, { "isoform_ac": "O43561-5", "url": "", "sequence": { "sequence": "MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLYPRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPSPQPLGGSHRTPSSRRDSDGANSVASYENEGASGIRGAQAGWGVWGPSWTRLTPVSLPPEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAFSMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEGAPDYENLQELN", "length": 261, "header": "sp|O43561-5|LAT_HUMAN Isoform 5 of Linker for activation of T-cells family member 1 OS=Homo sapiens OX=9606 GN=LAT PE=1 SV=1 CANONICAL=O43561-1" }, "locus": { "chromosome": "16", "start_pos": 28990009, "end_pos": 28985418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566177.5", "url": "https://www.ensembl.org/id/ENST00000566177.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456761.1", "url": "https://www.ensembl.org/id/ENSP00000456761.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 173, "start_aa": "Ser", "end_pos": 173, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser173", "evidence": [ { "id": "O43561", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43561" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O43561", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43561" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Ser", "end_pos": 173, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser173", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 178, "start_aa": "Ser", "end_pos": 178, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser178", "evidence": [ { "id": "O43561", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43561" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O43561", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43561" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 183, "start_aa": "Ser", "end_pos": 183, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser183", "evidence": [ { "id": "O43561", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43561" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" }, { "database": "phospho.ELM", "id": "O43561", "url": "http://phospho.elm.eu.org/byAccession/O43561.html" } ], "site_lbl": "Ser101" }, { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" } ], "site_lbl": "Ser106" }, { "start_pos": 109, "end_pos": 109, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "phospho.ELM", "id": "O43561", "url": "http://phospho.elm.eu.org/byAccession/O43561.html" } ], "site_lbl": "Ser109" }, { "start_pos": 110, "end_pos": 110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" } ], "site_lbl": "Tyr110" }, { "start_pos": 156, "end_pos": 156, "kinase_uniprot_canonical_ac": "P43403-1", "kinase_gene_name": "ZAP70", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" }, { "database": "PubMed", "id": "11368773", "url": "https://glygen.org/publication/PubMed/11368773" } ], "site_lbl": "Tyr156" }, { "start_pos": 156, "end_pos": 156, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "PRO", "id": "O43561", "url": "http://purl.obolibrary.org/obo/O43561" }, { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" } ], "site_lbl": "Tyr156" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "P43403-1", "kinase_gene_name": "ZAP70", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" 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Chem.", "date": "1999", "authors": "Lindholm CK, Gylfe E, Zhang W, Samelson LE, Welsh M", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" } ], "reference": [ { "type": "PubMed", "id": "10488157", "url": "https://glygen.org/publication/PubMed/10488157" } ] }, { "title": "Functional association between SLAP-130 and SLP-76 in Jurkat T cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Boerth NJ, Judd BA, Koretzky GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "10671560", "url": "https://glygen.org/publication/PubMed/10671560" } ] }, { "title": "Fyn-binding protein (Fyb)/SLP-76-associated protein (SLAP), Ena/vasodilator-stimulated phosphoprotein (VASP) proteins and the Arp2/3 complex link T cell receptor (TCR) signaling to the actin cytoskeleton.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Krause M, Sechi AS, Konradt M, Monner D, Gertler FB, Wehland J", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "10747096", "url": "https://glygen.org/publication/PubMed/10747096" } ] }, { "title": "The adapter protein LAT enhances fcgamma receptor-mediated signal transduction in myeloid cells.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Tridandapani S, Lyden T W, Smith J L, Carter J E, Coggeshall K M, Anderson C L", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" } ], "reference": [ { "type": "PubMed", "id": "10781611", "url": "https://glygen.org/publication/PubMed/10781611" } ] }, { "title": "Association of Grb2, Gads, and phospholipase C-gamma 1 with phosphorylated LAT tyrosine residues. Effect of LAT tyrosine mutations on T cell antigen receptor-mediated signaling.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Zhang W, Trible RP, Zhu M, Liu SK, McGlade CJ, Samelson LE", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" }, { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" }, { "database": "iPTMnet", "id": "O43561", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43561" } ], "reference": [ { "type": "PubMed", "id": "10811803", "url": "https://glygen.org/publication/PubMed/10811803" } ] }, { "title": "Interaction of linker for activation of T cells with multiple adapter proteins in platelets activated by the glycoprotein VI-selective ligand, convulxin.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Asazuma N, Wilde JI, Berlanga O, Leduc M, Leo A, Schweighoffer E, Tybulewicz V, Bon C, Liu SK, McGlade CJ, Schraven B, Watson SP", "evidence": [ { "database": "UniProtKB", "id": "O43561", "url": "https://www.uniprot.org/uniprot/O43561" } ], "reference": [ { "type": "PubMed", "id": "10942756", "url": "https://glygen.org/publication/PubMed/10942756" } ] }, { "title": "The mechanism of phospholipase C-gamma1 regulation.", "journal": "Experimental & molecular medicine", "date": "2000", "authors": "Kim MJ, Kim E, Ryu SH, Suh PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "11048639", "url": "https://glygen.org/publication/PubMed/11048639" } ] }, { "title": "Protein tyrosine phosphatase CD148-mediated inhibition of T-cell receptor signal transduction is associated with reduced LAT and phospholipase Cgamma1 phosphorylation.", "journal": "Mol. Cell. 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