{ "uniprot_canonical_ac": "Q12968-1", "uniprot_ac": "Q12968", "uniprot_id": "NFAC3_HUMAN", "mass": { "chemical_mass": 115594.0, "monoisotopic_mass": 115594.0 }, "refseq": { "ac": "NP_004546", "name": "nuclear factor of activated T-cells, cytoplasmic 3 isoform 2", "summary": "The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" }, "gene_names": [ { "name": "NFATC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q12968", "id": "Q12968" }, { "name": "NFAT4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q12968", "id": "Q12968" }, { "name": "NFATC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546", "id": "NP_004546" }, { "name": "n339260; NF-AT4c; NFAT4; NFATX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546", "id": "NP_004546" } ], "protein_names": [ { "name": "Nuclear factor of activated T-cells, cytoplasmic 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q12968" }, { "name": "NF-AT4c", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12968" }, { "name": "NF-AT4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12968" }, { "name": "NF-ATc3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12968" }, { "name": "NFATc3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12968" }, { "name": "NFATx", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12968" }, { "name": "T cell transcription factor NFAT4; NF-ATc3; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546", "id": "NP_004546" }, { "name": "T-cell transcription factor NFAT4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12968" }, { "name": "nuclear factor of activated T-cells, cytoplasmic 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546", "id": "NP_004546" } ], "function": [ { "annotation": "Acts as a regulator of transcriptional activation. Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 (PubMed:18815128). Along with NFATC4, involved in embryonic heart development (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968#function" }, { "database": "UniProtKB", "id": "P97305", "url": "https://www.uniprot.org/uniprot/P97305#function" }, { "database": "PubMed", "id": "18815128", "url": "https://glygen.org/publication/PubMed/18815128" } ] }, { "annotation": "CircNFATC3 promotes the proliferation of gastric cancer through binding to IGF2BP3 and restricting its ubiquitination to enhance CCND1 mRNA stability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" }, { "database": "PubMed", "id": "37340423", "url": "https://glygen.org/publication/PubMed/37340423" } ] }, { "annotation": "Fusobacterium nucleatum Promotes Cisplatin-Resistance and Migration of Oral Squamous Carcinoma Cells by Up-Regulating Wnt5a-Mediated NFATc3 Expression.", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" }, { "database": "PubMed", "id": "33840648", "url": "https://glygen.org/publication/PubMed/33840648" } ] }, { "annotation": "Hypoxia-induced NFATc3 deSUMOylation enhances pancreatic carcinoma progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" }, { "database": "PubMed", "id": "35484132", "url": "https://glygen.org/publication/PubMed/35484132" } ] }, { "annotation": "LncRNA NEAT1 promotes hypoxia-induced inflammation and fibrosis of alveolar epithelial cells via targeting miR-29a/NFATc3 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" }, { "database": "PubMed", "id": "35708150", "url": "https://glygen.org/publication/PubMed/35708150" } ] }, { "annotation": "Macrophage NFATc3 prevents foam cell formation and atherosclerosis: evidence and mechanisms.", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" }, { "database": "PubMed", "id": "34570211", "url": "https://glygen.org/publication/PubMed/34570211" } ] }, { "annotation": "The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q12968", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q12968" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 467, "end_pos": 467, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "68126610", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K467", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the 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"sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDVNEIIGRDMSQISVSQGAGVSRQAPLPSPESLDLGRSDGL", "length": 1075, "header": "sp|Q12968-1|NFAC3_HUMAN Isoform 1 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "isoforms": [ { "isoform_ac": "F8VPH9-1", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPAAPGL", "length": 38, "header": "tr|F8VPH9-1|F8VPH9_HUMAN Computationally mapped isoform of Nuclear factor of activated T cells 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68157879, "end_pos": 68085682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539828.6", "url": "https://www.ensembl.org/id/ENST00000539828.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000445670.2", "url": "https://www.ensembl.org/id/ENSP00000445670.2" } ] } }, { "isoform_ac": "H3BR83-1", "url": "", "sequence": { "sequence": "XLDDRRPITLCVCVRARVCDLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDDQFISDLEHQPSGSAEKWPNHSVLSCPAPFWRI", "length": 1053, "header": "tr|H3BR83-1|NFAC3_HUMAN Computationally mapped isoform of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68214428, "end_pos": 68085861, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562926.5", "url": "https://www.ensembl.org/id/ENST00000562926.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456120.1", "url": "https://www.ensembl.org/id/ENSP00000456120.1" } ] } }, { "isoform_ac": "H3BRM3-1", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPAAHLHYLH", "length": 41, "header": "tr|H3BRM3-1|NFAC3_HUMAN Computationally mapped isoform of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68126467, "end_pos": 68085682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562171.1", "url": "https://www.ensembl.org/id/ENST00000562171.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456307.1", "url": "https://www.ensembl.org/id/ENSP00000456307.1" } ] } }, { "isoform_ac": "H3BRS1-1", "url": "", "sequence": { "sequence": "XLDDRRPITLCVCVRARVCDLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDVNEIIGRDMSQISVSQGAGVSRQAPLPSPESLDLGRSDGL", "length": 1060, "header": "tr|H3BRS1-1|NFAC3_HUMAN Computationally mapped isoform of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68226470, "end_pos": 68085861, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570212.5", "url": "https://www.ensembl.org/id/ENST00000570212.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456379.1", "url": "https://www.ensembl.org/id/ENSP00000456379.1" } ] } }, { "isoform_ac": "H3BU30-1", "url": "", "sequence": { "sequence": "LKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKESKIRSSFDVVFDAQLLLSMGKKKVYGKHSRYLTTLTWKLLSIITTYNFLATSSHMALLTCRSTGKSSPWLGSLSSSKLCIL", "length": 167, "header": "tr|H3BU30-1|NFAC3_HUMAN Computationally mapped isoform of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=2 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68138756, "end_pos": 68123030, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565750.2", "url": "https://www.ensembl.org/id/ENST00000565750.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000457441.2", "url": "https://www.ensembl.org/id/ENSP00000457441.2" } ] } }, { "isoform_ac": "I3L3K7-1", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDGFVKAEKPLSHD", "length": 1047, "header": "tr|I3L3K7-1|NFAC3_HUMAN Computationally mapped isoform of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68217745, "end_pos": 68085682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575270.5", "url": "https://www.ensembl.org/id/ENST00000575270.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460533.1", "url": "https://www.ensembl.org/id/ENSP00000460533.1" } ] } }, { "isoform_ac": "Q12968-1", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDVNEIIGRDMSQISVSQGAGVSRQAPLPSPESLDLGRSDGL", "length": 1075, "header": "sp|Q12968-1|NFAC3_HUMAN Isoform 1 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68226468, "end_pos": 68085682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346183.8", "url": "https://www.ensembl.org/id/ENST00000346183.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000300659.5", "url": "https://www.ensembl.org/id/ENSP00000300659.5" } ] } }, { "isoform_ac": "Q12968-2", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDDQFISDLEHQPSGSAEKWPNHSVLSCPAPFWRI", "length": 1068, "header": "sp|Q12968-2|NFAC3_HUMAN Isoform 2 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68214426, "end_pos": 68085682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329524.8", "url": "https://www.ensembl.org/id/ENST00000329524.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000331324.4", "url": "https://www.ensembl.org/id/ENSP00000331324.4" } ] } }, { "isoform_ac": "Q12968-3", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDDLFTSNNFDLLQLRPTFWPVPAGRYLRNLE", "length": 1065, "header": "sp|Q12968-3|NFAC3_HUMAN Isoform 3 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": { "chromosome": "16", "start_pos": 68221284, "end_pos": 68085682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000349223.9", "url": "https://www.ensembl.org/id/ENST00000349223.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000264008.6", "url": "https://www.ensembl.org/id/ENSP00000264008.6" } ] } }, { "isoform_ac": "Q12968-4", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHSTQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDGKFISDMFLK", "length": 1045, "header": "sp|Q12968-4|NFAC3_HUMAN Isoform 4 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": {} }, { "isoform_ac": "Q12968-5", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPGTRSHDGLL", "length": 708, "header": "sp|Q12968-5|NFAC3_HUMAN Isoform 5 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": {} }, { "isoform_ac": "Q12968-6", "url": "", "sequence": { "sequence": "MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETWHQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDDGLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPTLPQTSRQTLLGSQPPSASPPTV", "length": 739, "header": "sp|Q12968-6|NFAC3_HUMAN Isoform 6 of Nuclear factor of activated T-cells, cytoplasmic 3 OS=Homo sapiens OX=9606 GN=NFATC3 PE=1 SV=1 CANONICAL=Q12968-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q12968", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q12968" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [ { "start_pos": 1063, "end_pos": 1063, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser1063" }, { "start_pos": 1066, "end_pos": 1066, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser1066" }, { "start_pos": 163, "end_pos": 163, "kinase_uniprot_canonical_ac": "P45984-1", "kinase_gene_name": "MAPK9", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9374467", "url": "https://glygen.org/publication/PubMed/9374467" }, { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" } ], "site_lbl": "Ser163" }, { "start_pos": 165, "end_pos": 165, "kinase_uniprot_canonical_ac": "P45984-1", "kinase_gene_name": "MAPK9", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9374467", "url": "https://glygen.org/publication/PubMed/9374467" }, { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" } ], "site_lbl": "Ser165" }, { "start_pos": 165, "end_pos": 165, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "27863227", "url": "https://glygen.org/publication/PubMed/27863227" } ], "site_lbl": "Ser165" }, { "start_pos": 168, "end_pos": 168, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser168" }, { "start_pos": 169, "end_pos": 169, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser169" }, { "start_pos": 171, "end_pos": 171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser171" }, { "start_pos": 172, "end_pos": 172, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser172" }, { "start_pos": 174, "end_pos": 174, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser174" }, { "start_pos": 204, "end_pos": 204, "kinase_uniprot_canonical_ac": "P48729-1", "kinase_gene_name": "CSNK1A1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Thr204" }, { "start_pos": 204, "end_pos": 204, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Thr204" }, { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "P48729-1", "kinase_gene_name": "CSNK1A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Ser207" }, { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Ser207" }, { "start_pos": 210, "end_pos": 210, "kinase_uniprot_canonical_ac": "P48729-1", "kinase_gene_name": "CSNK1A1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Thr210" }, { "start_pos": 210, "end_pos": 210, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Thr210" }, { "start_pos": 211, "end_pos": 211, "kinase_uniprot_canonical_ac": "P48729-1", "kinase_gene_name": "CSNK1A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Ser211" }, { "start_pos": 211, "end_pos": 211, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Ser211" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "P48729-1", "kinase_gene_name": "CSNK1A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Ser215" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q12968", "url": "http://phospho.elm.eu.org/byAccession/Q12968.html" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "9630228", "url": "https://glygen.org/publication/PubMed/9630228" } ], "site_lbl": "Ser215" }, { "start_pos": 236, "end_pos": 236, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser236" }, { "start_pos": 240, "end_pos": 240, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser240" }, { "start_pos": 244, "end_pos": 244, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser244" }, { "start_pos": 265, "end_pos": 265, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser265" }, { "start_pos": 288, "end_pos": 288, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser288" }, { "start_pos": 296, "end_pos": 296, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser296" }, { "start_pos": 300, "end_pos": 300, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser300" }, { "start_pos": 344, "end_pos": 344, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" }, { "database": "PRO", "id": "Q12968", "url": "http://purl.obolibrary.org/obo/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser344" }, { "start_pos": 366, "end_pos": 366, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser366" }, { "start_pos": 372, "end_pos": 372, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "site_lbl": "Ser372" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Generic signals and specific outcomes: signaling through Ca2+, calcineurin, and NF-AT.", "journal": "Cell", "date": "1999", "authors": "Crabtree G.R.", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "reference": [ { "type": "PubMed", "id": "10089876", "url": "https://glygen.org/publication/PubMed/10089876" } ] }, { "title": "A second calcineurin binding site on the NFAT regulatory domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Park S, Uesugi M, Verdine GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "10860980", "url": "https://glygen.org/publication/PubMed/10860980" } ] }, { "title": "Calcineurin: form and function.", "journal": "Physiological reviews", "date": "2000", "authors": "Rusnak F, Mertz P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "11015619", "url": "https://glygen.org/publication/PubMed/11015619" } ] }, { "title": "Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity.", "journal": "Molecular cell", "date": "2000", "authors": "Okamura H, Aramburu J, Garcia-Rodriguez C, Viola JP, Raghavan A, Tahiliani M, Zhang X, Qin J, Hogan PG, Rao A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "11030334", "url": "https://glygen.org/publication/PubMed/11030334" } ] }, { "title": "Characterization of DNA binding, transcriptional activation, and regulated nuclear association of recombinant human NFATp.", "journal": "BMC immunology", "date": "2000", "authors": "Kim LJ, Ferguson HA, Seto AG, Goodrich JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "11231878", "url": "https://glygen.org/publication/PubMed/11231878" } ] }, { "title": "Regulation of phosphoinositide-specific phospholipase C.", "journal": "Annual review of biochemistry", "date": "2001", "authors": "Rhee SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "11395409", "url": "https://glygen.org/publication/PubMed/11395409" } ] }, { "title": "Identification of phosphorylation sites within the SH3 domains of Tec family tyrosine kinases.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Nore BF, Mattsson PT, Antonsson P, Backesjo CM, Westlund A, Lennartsson J, Hansson H, Low P, Ronnstrand L, Smith CI", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "12573241", "url": "https://glygen.org/publication/PubMed/12573241" } ] }, { "title": "Transcriptional regulation by calcium, calcineurin, and NFAT.", "journal": "Genes & development", "date": "2003", "authors": "Hogan PG, Chen L, Nardone J, Rao A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "12975316", "url": "https://glygen.org/publication/PubMed/12975316" } ] }, { "title": "Calcineurin is a common target of cyclophilin-cyclosporin A and FKBP-FK506 complexes.", "journal": "Cell", "date": "1991", "authors": "Liu J, Farmer JD Jr, Lane WS, Friedman J, Weissman I, Schreiber SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "1715244", "url": "https://glygen.org/publication/PubMed/1715244" } ] }, { "title": "Structure of the calcineurin-NFAT complex: defining a T cell activation switch using solution NMR and crystal coordinates.", "journal": "Structure (London, England : 1993)", "date": "2007", "authors": "Takeuchi K, Roehrl MH, Sun ZY, Wagner G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "17502104", "url": "https://glygen.org/publication/PubMed/17502104" } ] }, { "title": "The secondary structure of calcineurin regulatory region and conformational change induced by calcium/calmodulin binding.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Shen X, Li H, Ou Y, Tao W, Dong A, Kong J, Ji C, Yu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "18296442", "url": "https://glygen.org/publication/PubMed/18296442" } ] }, { "title": "CHP2 activates the calcineurin/nuclear factor of activated T cells signaling pathway and enhances the oncogenic potential of HEK293 cells.", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Li GD, Zhang X, Li R, Wang YD, Wang YL, Han KJ, Qian XP, Yang CG, Liu P, Wei Q, Chen WF, Zhang J, Zhang Y", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "reference": [ { "type": "PubMed", "id": "18815128", "url": "https://glygen.org/publication/PubMed/18815128" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q12968-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" }, { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q12968", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q12968" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "FK-506, a novel immunosuppressant isolated from a Streptomyces. I. Fermentation, isolation, and physico-chemical and biological characteristics.", "journal": "The Journal of antibiotics", "date": "1987", "authors": "Kino T, Hatanaka H, Hashimoto M, Nishiyama M, Goto T, Okuhara M, Kohsaka M, Aoki H, Imanaka H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "2445721", "url": "https://glygen.org/publication/PubMed/2445721" } ] }, { "title": "Control of NFAT Isoform Activation and NFAT-Dependent Gene Expression through Two Coincident and Spatially Segregated Intracellular Ca(2+) Signals.", "journal": "Molecular cell", "date": "2016", "authors": "Kar P, Mirams GR, Christian HC, Parekh AB", "evidence": [ { "database": "iPTMnet", "id": "Q12968", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q12968" } ], "reference": [ { "type": "PubMed", "id": "27863227", "url": "https://glygen.org/publication/PubMed/27863227" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q12968", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q12968" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Rapamycin and FK506 derivative TH2849 could ameliorate neurodegenerative diseases through autophagy with low immunosuppressive effect.", "journal": "CNS neuroscience & therapeutics", "date": "2019", "authors": "Ding L, Nan WH, Zhu XB, Li XM, Zhou LY, Chen HJ, Yu L, Ullah Khan F, Zhong HB, Shi XJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "30294901", "url": "https://glygen.org/publication/PubMed/30294901" } ] }, { "title": "Fusobacterium nucleatum Promotes Cisplatin-Resistance and Migration of Oral Squamous Carcinoma Cells by Up-Regulating Wnt5a-Mediated NFATc3 Expression.", "journal": "The Tohoku journal of experimental medicine", "date": "2021", "authors": "Da J, Wang X, Li L, Xu Y", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" } ], "reference": [ { "type": "PubMed", "id": "33840648", "url": "https://glygen.org/publication/PubMed/33840648" } ] }, { "title": "Macrophage NFATc3 prevents foam cell formation and atherosclerosis: evidence and mechanisms.", "journal": "European heart journal", "date": "2021", "authors": "Liu X, Guo JW, Lin XC, Tuo YH, Peng WL, He SY, Li ZQ, Ye YC, Yu J, Zhang FR, Ma MM, Shang JY, Lv XF, Zhou AD, Ouyang Y, Wang C, Pang RP, Sun JX, Ou JS, Zhou JG, Liang SJ", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" } ], "reference": [ { "type": "PubMed", "id": "34570211", "url": "https://glygen.org/publication/PubMed/34570211" } ] }, { "title": "Hypoxia-induced NFATc3 deSUMOylation enhances pancreatic carcinoma progression.", "journal": "Cell death & disease", "date": "2022", "authors": "Tong Y, Zhang Z, Cheng Y, Yang J, Fan C, Zhang X, Yang J, Wang L, Guo D, Yan D", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" } ], "reference": [ { "type": "PubMed", "id": "35484132", "url": "https://glygen.org/publication/PubMed/35484132" } ] }, { "title": "lncRNA NEAT1 promotes hypoxia-induced inflammation and fibrosis of alveolar epithelial cells via targeting miR-29a/NFATc3 axis.", "journal": "The Kaohsiung journal of medical sciences", "date": "2022", "authors": "Zhang X, Duan XJ, Li LR, Chen YP", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" } ], "reference": [ { "type": "PubMed", "id": "35708150", "url": "https://glygen.org/publication/PubMed/35708150" } ] }, { "title": "CircNFATC3 promotes the proliferation of gastric cancer through binding to IGF2BP3 and restricting its ubiquitination to enhance CCND1 mRNA stability.", "journal": "Journal of translational medicine", "date": "2023-06-20", "authors": "Yang Feifei, Ma Qiang, Huang Bo, Wang Xiaolin, Pan Xiaojuan, Yu Ting, Ran Lingyu, Jiang Shan, Li Haiping, Chen Ye, Liu Yuying, Liang Ce, Ren Junwu, Zhang Yuying, Wang Shimin, Li Wei, Xiao Bin", "evidence": [ { "database": "RefSeq", "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546" } ], "reference": [ { "type": "PubMed", "id": "37340423", "url": "https://glygen.org/publication/PubMed/37340423" } ] }, { "title": "Tyrosine phosphorylation and activation of Bruton tyrosine kinase upon Fc epsilon RI cross-linking.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Kawakami Y, Yao L, Miura T, Tsukada S, Witte ON, Kawakami T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "7518558", "url": "https://glygen.org/publication/PubMed/7518558" } ] }, { "title": "Phosphorylation of the transcription factor NFATp inhibits its DNA binding activity in cyclosporin A-treated human B and T cells.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Park J, Yaseen NR, Hogan PG, Rao A, Sharma S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "7657645", "url": "https://glygen.org/publication/PubMed/7657645" } ] }, { "title": "NFATx, a novel member of the nuclear factor of activated T cells family that is expressed predominantly in the thymus.", "journal": "Mol. Cell. Biol.", "date": "1995", "authors": "Naito Y., Arai K., Saito F., Tokumitsu H., Arai N., Campbell D., Hannum C., Masuda E.S.", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "reference": [ { "type": "PubMed", "id": "7739550", "url": "https://glygen.org/publication/PubMed/7739550" } ] }, { "title": "Isolation of two new members of the NF-AT gene family and functional characterization of the NF-AT proteins.", "journal": "Immunity", "date": "1995", "authors": "Hoey T, Sun YL, Williamson K, Xu X", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "reference": [ { "type": "PubMed", "id": "7749981", "url": "https://glygen.org/publication/PubMed/7749981" } ] }, { "title": "Identification of a physical interaction between calcineurin and nuclear factor of activated T cells (NFATp).", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Wesselborg S, Fruman DA, Sagoo JK, Bierer BE, Burakoff SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "8576111", "url": "https://glygen.org/publication/PubMed/8576111" } ] }, { "title": "Activation of BTK by a phosphorylation mechanism initiated by SRC family kinases.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Rawlings DJ, Scharenberg AM, Park H, Wahl MI, Lin S, Kato RM, Fluckiger AC, Witte ON, Kinet JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "8629002", "url": "https://glygen.org/publication/PubMed/8629002" } ] }, { "title": "Regulation of Btk function by a major autophosphorylation site within the SH3 domain.", "journal": "Immunity", "date": "1996", "authors": "Park H, Wahl MI, Afar DE, Turck CW, Rawlings DJ, Tam C, Scharenberg AM, Kinet JP, Witte ON", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "8630736", "url": "https://glygen.org/publication/PubMed/8630736" } ] }, { "title": "Calcineurin binds the transcription factor NFAT1 and reversibly regulates its activity.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Loh C, Shaw KT, Carew J, Viola JP, Luo C, Perrino BA, Rao A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "8631904", "url": "https://glygen.org/publication/PubMed/8631904" } ] }, { "title": "Role of kinases and the phosphatase calcineurin in the nuclear shuttling of transcription factor NF-AT4.", "journal": "Nature", "date": "1996", "authors": "Shibasaki F, Price ER, Milan D, McKeon F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "8684469", "url": "https://glygen.org/publication/PubMed/8684469" } ] }, { "title": "Interaction of calcineurin with a domain of the transcription factor NFAT1 that controls nuclear import.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Luo C, Shaw KT, Raghavan A, Aramburu J, Garcia-Cozar F, Perrino BA, Hogan PG, Rao A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2871809", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809" } ], "reference": [ { "type": "PubMed", "id": "8799126", "url": "https://glygen.org/publication/PubMed/8799126" } ] }, { "title": "Nuclear localization of NF-ATc by a calcineurin-dependent, cyclosporin-sensitive intramolecular interaction.", "journal": "Genes & development", "date": "1997", "authors": "Beals CR, Clipstone NA, Ho SN, Crabtree GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "9106655", "url": "https://glygen.org/publication/PubMed/9106655" } ] }, { "title": "Evidence that calcineurin is rate-limiting for primary human lymphocyte activation.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Batiuk TD, Kung L, Halloran PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2025928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928" } ], "reference": [ { "type": "PubMed", "id": "9312192", "url": "https://glygen.org/publication/PubMed/9312192" } ] }, { "title": "Nuclear accumulation of NFAT4 opposed by the JNK signal transduction pathway.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Chow CW, Rincon M, Cavanagh J, Dickens M, Davis RJ", "evidence": [ { "database": "iPTMnet", "id": 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Immunol.", "date": "1998", "authors": "Fujino T., Naito Y., Arai K., Imamura R., Takano T., Arai N., Imai S., Masuda E.S.", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "reference": [ { "type": "PubMed", "id": "9759864", "url": "https://glygen.org/publication/PubMed/9759864" } ] } ], "pathway": [ { "id": "hsa:4775", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4775", "resource": "KEGG Pathway" }, { "id": "R-HSA-2025928", "name": "Calcineurin activates NFAT", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025928", "resource": "Reactome", "description": "Calcineurin activates NFAT" }, { "id": "R-HSA-2871809", "name": "FCERI mediated Ca+2 mobilization", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809", "resource": "Reactome", "description": "FCERI mediated Ca+2 mobilization" }, { "id": "R-HSA-5607763", "name": "CLEC7A (Dectin-1) induces NFAT activation", "url": 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"MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLSPSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQFTSISPNCQQELDAHEDDLQINDPEREFLERPSRDHLYLPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEESWHQQYGSGHSLSPRQSPCHSPRSSITDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHSPRGSVTEDTWLTAPVHTGSGLSPAPFPFQYCVETDIPLKTRKTSEDQAAILPGKLEICSDDQGNLSPSRETSVDDGLGSQYPLKKDSSGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPTHFGQCELKIEVQPKTHHRAHYETEGSRGAVKASTGGHPVVKLLGYSEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPLLPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELPHIEKYSINSCSVNGGHEMIVTGSNFLPESKIIFLEKGQDGGPHWEVEGKIIREKCQGAHIVLEVPPYHNPAVTSAVQVHFYLCNGKRKKSQSQRFTYTPVLMKQEQREDTDLPSVPSLPVPHSAQAQRPSSETGHPHDRAMSAPGGLLCQVQPAYTSMVASTHLPQLQCRDEGAGKEQHIATSSVMHQPFQVTPTSPIGSSYQSIQTSMYNGPTCLPVNPASSQEFDPVLFQQDAALSSLVNLGCQPLSPIPFHSSNSDATGHLLAHSPHSVQTPPHLQSMGYHCSNAGQTALSSPVADQITGQPSSHLQPITYCPSHPGSATAASPAASHPLASSPISGPSSPQLQPMPYQSPSSGTASSPSPTTRMHSGQHSTQAQSTGQGGLSVPSSLVCHSLCDPASFPPGGATVSIKPEPEDQEPNFATIGLQDITLDDVNEIIGRDMSQISVSQATEVMRDTPLPGPASPDLMTSHSAH", "length": 1075 }, "evidence": [ { "id": "45234943", "url": "http://www.informatics.jax.org/homology/45234943", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "negative regulation of vascular associated smooth muscle cell differentiation", "id": "GO:1905064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905064", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "calcineurin-NFAT signaling cascade", "id": "GO:0033173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033173", "evidence": [ { "database": "UniProtKB", "id": "Q12968", "url": "https://www.uniprot.org/uniprot/Q12968" } ], "pmid": "" }, { "name": "negative regulation 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