{ "uniprot_canonical_ac": "B2RZ59-1", "uniprot_ac": "B2RZ59", "uniprot_id": "SH21A_RAT", "mass": { "chemical_mass": 13992.0, "monoisotopic_mass": 13992.0 }, "refseq": { "ac": "NP_001102783", "name": "SH2 domain-containing protein 1A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783" }, "gene_names": [ { "name": "Sh2d1a", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/B2RZ59", "id": "B2RZ59" }, { "name": "RGD1562408", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783", "id": "NP_001102783" }, { "name": "Sh2d1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783", "id": "NP_001102783" } ], "protein_names": [ { "name": "SH2 domain-containing protein 1A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "B2RZ59" }, { "name": "SH2 domain protein 1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783", "id": "NP_001102783" }, { "name": "SH2 domain-containing protein 1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783", "id": "NP_001102783" } ], "function": [ { "annotation": "Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2. However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1. Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3 (PubMed:16223723).", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59#function" }, { "database": "UniProtKB", "id": "O60880", "url": "https://www.uniprot.org/uniprot/O60880#function" }, { "database": "UniProtKB", "id": "O88890", "url": "https://www.uniprot.org/uniprot/O88890#function" }, { "database": "PubMed", "id": "16223723", "url": "https://glygen.org/publication/PubMed/16223723" } ] }, { "annotation": "SAP may serve as a negative regulator of Trk receptor activation and downstream signaling", "evidence": [ { "database": "RefSeq", "id": "NP_001102783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783" }, { "database": "PubMed", "id": "16223723", "url": "https://glygen.org/publication/PubMed/16223723" } ] } ], "disease": [ { "disease_id": "DOID:0060705", "recommended_name": { "id": "DOID:0060705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060705", "name": "X-linked lymphoproliferative syndrome 1", "description": "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25." }, "synonyms": [ { "id": "DOID:0060705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060705", "name": "XLP1", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency", "description": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "lymphoproliferative syndrome, X-linked, 1, X-linked recessive", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "Duncan disease", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "EBV infection, Severe, susceptibility to", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "Epstein-Barr Virus infection, familial fatal", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "Lyp", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "Purtilo syndrome", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "XLP1", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "Xlp", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "immunodeficiency 5", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "immunodeficiency, X-linked progressive combined variable", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "infectious mononucleosis, Severe, susceptibility to", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "lymphoproliferative disease, X-linked", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "lymphoproliferative syndrome, X-linked, 1", "description": "" }, { "id": "MIM:308240", "resource": "MIM", "url": "https://www.omim.org/entry/308240", "name": "Lymphoproliferative syndrome, X-linked, 1", "description": "Lymphoproliferative syndrome, X-linked, 1" } ], "evidence": [ { "id": "0060705", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060705" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "common_name": "Rat" } ], "gene": [ { "name": "Sh2d1a", "url": "https://www.uniprot.org/uniprot/B2RZ59", "locus": {} } ], "crossref": [ { "id": "ENSRNOG00000006263", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000006263", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd10400", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd10400", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "501502", "url": "https://www.ncbi.nlm.nih.gov/gene/501502", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000980", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000980", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017289", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017289", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035876", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035876", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036860", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036860", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:501502", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:501502", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "3891423at2759", "url": "http://www.orthodb.org/?query=3891423at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46051", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46051", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46051:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46051:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00017", "url": "http://pfam.xfam.org/family/PF00017", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_B2RZ59", "url": "http://purl.obolibrary.org/obo/PR_B2RZ59", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001102783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1562408", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1562408", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B2RZ59-1", "url": "https://www.uniprot.org/uniprot/B2RZ59-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDAVTVYHGKISREMGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSQTETGSWSAETAPGVHKRFFRKVKNLISAFQKPDQGIVTPLQYPVEKSSARSPQAPTGRRDSDICLKAP", "length": 126, "header": "sp|B2RZ59-1|SH21A_RAT Isoform 1 of SH2 domain-containing protein 1A OS=Rattus norvegicus OX=10116 GN=Sh2d1a PE=1 SV=1 CANONICAL=B2RZ59-1" }, "isoforms": [ { "isoform_ac": "B2RZ59-1", "url": "", "sequence": { "sequence": "MDAVTVYHGKISREMGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSQTETGSWSAETAPGVHKRFFRKVKNLISAFQKPDQGIVTPLQYPVEKSSARSPQAPTGRRDSDICLKAP", "length": 126, "header": "sp|B2RZ59-1|SH21A_RAT Isoform 1 of SH2 domain-containing protein 1A OS=Rattus norvegicus OX=10116 GN=Sh2d1a PE=1 SV=1 CANONICAL=B2RZ59-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "B2RZ59", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RZ59" } ], "site_lbl": "Ser119" } ], "glycation": [], "keywords": [], "publication": [ { "title": "SLAM-associated protein as a potential negative regulator in Trk signaling.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Lo KY, Chin WH, Ng YP, Cheng AW, Cheung ZH, Ip NY", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" }, { "database": "RefSeq", "id": "NP_001102783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102783" } ], "reference": [ { "type": "PubMed", "id": "16223723", "url": "https://glygen.org/publication/PubMed/16223723" } ] }, { "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nature communications", "date": "2012", "authors": "Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" }, { "database": "iPTMnet", "id": "B2RZ59", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RZ59" } ], "reference": [ { "type": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" } ] } ], "pathway": [ { "id": "rno:501502", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:501502", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O60880-1", "protein_name": "SH2 domain-containing protein 1A", "gene_name": "SH2D1A", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP", "length": 128 }, "evidence": [ { "id": "45238374", "url": "http://www.informatics.jax.org/homology/45238374", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "O88890-1", "protein_name": "SH2 domain-containing protein 1A", "gene_name": "Sh2d1a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDAVTVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSQTETGSWSAETAPGVHKRFFRKVKNLISAFQKPDQGIVTPLQYPVEKSSGRGPQAPTGRRDSDICLNAP", "length": 126 }, "evidence": [ { "id": "45238374", "url": "http://www.informatics.jax.org/homology/45238374", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "cellular defense response", "id": "GO:0006968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006968", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "B2RZ59", "url": "https://www.uniprot.org/uniprot/B2RZ59" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": 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"count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }