{ "uniprot_canonical_ac": "O94985-1", "uniprot_ac": "O94985", "uniprot_id": "CSTN1_HUMAN", "mass": { "chemical_mass": 109793.0, "monoisotopic_mass": 109793.0 }, "refseq": { "ac": "NP_001009566", "name": "calsyntenin-1 isoform 1 precursor", "summary": "This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" }, "gene_names": [ { "name": "CLSTN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94985", "id": "O94985" }, { "name": "ALC-ALPHA; alcalpha1; alcalpha2; CDHR12; CST-1; CSTN1; PIK3CD; XB31alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566", "id": "NP_001009566" }, { "name": "CLSTN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566", "id": "NP_001009566" }, { "name": "CS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94985", "id": "O94985" }, { "name": "KIAA0911", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94985", "id": "O94985" } ], "protein_names": [ { "name": "Calsyntenin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94985" }, { "name": "Alc-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94985" }, { "name": "Alcadein-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94985" }, { "name": "Alzheimer-related cadherin-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94985" }, { "name": "C-terminal fragment 1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94985" }, { "name": "Non-classical cadherin XB31alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94985" }, { "name": "cadherin-related family member 12; non-classical cadherin XB31alpha; alzheimer-related cadherin-like protein; alcadein-alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566", "id": "NP_001009566" }, { "name": "calsyntenin-1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566", "id": "NP_001009566" } ], "function": [ { "annotation": "Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation [alcalpha1, alcbeta, alcgamma]", "evidence": [ { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" }, { "database": "PubMed", "id": "15037614", "url": "https://glygen.org/publication/PubMed/15037614" } ] }, { "annotation": "As intracellular fragment AlcICD, suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding (PubMed:15037614).", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985#function" }, { "database": "PubMed", "id": "15037614", "url": "https://glygen.org/publication/PubMed/15037614" } ] }, { "annotation": "Calsyntenin-1 contributes to the early stages of the hepatitis C virus replication cycle and the formation of the replication complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" }, { "database": "PubMed", "id": "27221318", "url": "https://glygen.org/publication/PubMed/27221318" } ] }, { "annotation": "In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP (PubMed:15037614).", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985#function" }, { "database": "PubMed", "id": "15037614", "url": "https://glygen.org/publication/PubMed/15037614" } ] }, { "annotation": "Postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation (By similarity). Promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, which associates with neurexin-alpha at the presynaptic membrane (By similarity). Also functions as a cargo in axonal anterograde transport by acting as a molecular adapter that promotes KLC1 association with vesicles (PubMed:21385839). Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation (PubMed:12972431).", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985#function" }, { "database": "PubMed", "id": "12972431", "url": "https://glygen.org/publication/PubMed/12972431" }, { "database": "UniProtKB", "id": "Q9EPL2", "url": "https://www.uniprot.org/uniprot/Q9EPL2#function" }, { "database": "PubMed", "id": "21385839", "url": "https://glygen.org/publication/PubMed/21385839" }, { "database": "UniProtKB", "id": "Q99JH7", "url": "https://www.uniprot.org/uniprot/Q99JH7#function" } ] }, { "annotation": "Results suggests that APP partially compensates for defective Alcalpha in anterograde transport by providing an alternative cargo receptor for kinesin-1. Erratum:[Mol Biol Cell. 2018 Feb 1;29(3):376. PMID: 29382807]", "evidence": [ { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" }, { "database": "PubMed", "id": "29093024", "url": "https://glygen.org/publication/PubMed/29093024" } ] }, { "annotation": "This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs773767177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773767177" }, { "id": "rs773767177", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773767177" }, { "id": "rs773767177", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773767177#frequency_tab" }, { "id": "rs773767177", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773767177" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 515, "end_pos": 515, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET); n-glyco-sequon-gain (NDN->NDS).", "chr_id": "1", "chr_pos": "9737530", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N515", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1190350803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190350803" }, { "id": "rs1190350803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1190350803" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "1", "chr_pos": "9755142", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1348407475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1348407475" }, { "id": "rs1348407475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1348407475#frequency_tab" }, { "id": "rs1348407475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1348407475" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 254, "end_pos": 254, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "1", "chr_pos": "9749801", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375565731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375565731" }, { "id": "rs375565731", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375565731" }, { "id": "rs375565731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375565731#frequency_tab" }, { "id": "rs375565731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375565731" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 272, "end_pos": 272, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRI->NRT).", "chr_id": "1", "chr_pos": "9749631", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I272", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1415513125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415513125" }, { "id": "rs1415513125", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1415513125#frequency_tab" }, { "id": "rs1415513125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415513125" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 346, "end_pos": 346, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->KWT).", "chr_id": "1", "chr_pos": "9744591", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs539478884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539478884" }, { "id": "rs539478884", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539478884" }, { "id": "rs539478884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539478884" }, { "id": "rs539478884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539478884" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 346, "end_pos": 346, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->TWT).", "chr_id": "1", "chr_pos": "9744592", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257674369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257674369" }, { "id": "rs1257674369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257674369" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 366, "end_pos": 366, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "chr_id": "1", "chr_pos": "9744533", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94985", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94985" }, { "id": "rs375488055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375488055" }, { "id": "rs375488055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375488055" }, { "id": "rs375488055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375488055#frequency_tab" }, { "id": "rs375488055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375488055" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 366, "end_pos": 366, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "1", "chr_pos": "9744532", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N366", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs748077184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748077184" }, { "id": "rs748077184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748077184" }, { "id": "rs748077184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748077184" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 50, "end_pos": 50, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "1", "chr_pos": "9773338", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1468237630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468237630" }, { "id": "rs1468237630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468237630#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 51, "end_pos": 51, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDT).", "chr_id": "1", "chr_pos": "9773334", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1487367439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487367439" }, { "id": "rs1487367439", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1487367439#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 540, "end_pos": 540, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "1", "chr_pos": "9736001", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431352136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431352136" }, { "id": "rs1431352136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431352136" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 654, "end_pos": 654, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "1", "chr_pos": "9735096", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751301278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751301278" }, { "id": "rs751301278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751301278" }, { "id": "rs751301278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751301278#frequency_tab" }, { "id": "rs751301278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751301278" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 815, "end_pos": 815, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "1", "chr_pos": "9731880", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T815", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270013360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270013360" }, { "id": "rs1270013360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270013360" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 975, "end_pos": 975, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "1", "chr_pos": "9730531", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D975", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 913, "end_pos": 914, "sequence_org": "NP", "sequence_mut": "AA", "comment": "Abolishes interaction with APBA2.", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" }, { "database": "PubMed", "id": "12972431", "url": "https://glygen.org/publication/PubMed/12972431" } ] }, { "start_pos": 918, "end_pos": 918, "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on APBA2-binding.", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" }, { "database": "PubMed", "id": "12972431", "url": "https://glygen.org/publication/PubMed/12972431" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171603" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171603" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171603" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171603" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171603" } ] }, { "tissue": { "name": "Rectum", "namespace": 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"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": 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"BioXpress", "id": "O94985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94985" } ], "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": 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"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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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[DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O94985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94985" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94985" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94985" } ], "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": "O94985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94985" } ], "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", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"Ensembl Peptide", "id": "ENSP00000497950.1", "url": "https://www.ensembl.org/id/ENSP00000497950.1" } ] } }, { "isoform_ac": "O94985-1", "url": "", "sequence": { "sequence": "MLRRPAPALAPAARLLLAGLLCGGGVWAARVNKHKPWLEPTYHGIVTENDNTVLLDPPLIALDKDAPLRFAESFEVTVTKEGEICGFKIHGQNVPFDAVVVDKSTGEGVIRSKEKLDCELQKDYSFTIQAYDCGKGPDGTNVKKSHKATVHIQVNDVNEYAPVFKEKSYKATVIEGKQYDSILRVEAVDADCSPQFSQICSYEIITPDVPFTVDKDGYIKNTEKLNYGKEHQYKLTVTAYDCGKKRATEDVLVKISIKPTCTPGWQGWNNRIEYEPGTGALAVFPNIHLETCDEPVASVQATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTAELLPSPSGSLNWTMGLPTDNGHDSDQVFEFNGTQAVRIPDGVVSVSPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSLYVHGCRLIFLFRQDPSEEKKYRPAEFHWKLNQVCDEEWHHYVLNVEFPSVTLYVDGTSHEPFSVTEDYPLHPSKIETQLVVGACWQEFSGVENDNETEPVTVASAGGDLHMTQFFRGNLAGLTLRSGKLADKKVIDCLYTCKEGLDLQVLEDSGRGVQIQAHPSQLVLTLEGEDLGELDKAMQHISYLNSRQFPTPGIRRLKITSTIKCFNEATCISVPPVDGYVMVLQPEEPKISLSGVHHFARAASEFESSEGVFLFPELRIISTITREVEPEGDGAEDPTVQESLVSEEIVHDLDTCEVTVEGEELNHEQESLEVDMARLQQKGIEVSSSELGMTFTGVDTMASYEEVLHLLRYRNWHARSLLDRKFKLICSELNGRYISNEFKVEVNVIHTANPMEHANHMAAQPQFVHPEHRSFVDLSGHNLANPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHRRTMRDQDTGKENEMDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEDDITSAESESSEEEEGEQGDPQNATRQQQLEWDDSTLSY", "length": 981, "header": "sp|O94985-1|CSTN1_HUMAN Isoform 1 of Calsyntenin-1 OS=Homo sapiens OX=9606 GN=CLSTN1 PE=1 SV=1 CANONICAL=O94985-1" }, "locus": { "chromosome": "1", "start_pos": 9823733, "end_pos": 9730511, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377298.9", "url": "https://www.ensembl.org/id/ENST00000377298.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000366513.4", "url": "https://www.ensembl.org/id/ENSP00000366513.4" } ] } }, { "isoform_ac": "O94985-2", "url": "", "sequence": { "sequence": "MLRRPAPALAPAARLLLAGLLCGGGVWAARVNKHKPWLEPTYHGIVTENDNTVLLDPPLIALDKDAPLRFAGEICGFKIHGQNVPFDAVVVDKSTGEGVIRSKEKLDCELQKDYSFTIQAYDCGKGPDGTNVKKSHKATVHIQVNDVNEYAPVFKEKSYKATVIEGKQYDSILRVEAVDADCSPQFSQICSYEIITPDVPFTVDKDGYIKNTEKLNYGKEHQYKLTVTAYDCGKKRATEDVLVKISIKPTCTPGWQGWNNRIEYEPGTGALAVFPNIHLETCDEPVASVQATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTAELLPSPSGSLNWTMGLPTDNGHDSDQVFEFNGTQAVRIPDGVVSVSPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSLYVHGCRLIFLFRQDPSEEKKYRPAEFHWKLNQVCDEEWHHYVLNVEFPSVTLYVDGTSHEPFSVTEDYPLHPSKIETQLVVGACWQEFSGVENDNETEPVTVASAGGDLHMTQFFRGNLAGLTLRSGKLADKKVIDCLYTCKEGLDLQVLEDSGRGVQIQAHPSQLVLTLEGEDLGELDKAMQHISYLNSRQFPTPGIRRLKITSTIKCFNEATCISVPPVDGYVMVLQPEEPKISLSGVHHFARAASEFESSEGVFLFPELRIISTITREVEPEGDGAEDPTVQESLVSEEIVHDLDTCEVTVEGEELNHEQESLEVDMARLQQKGIEVSSSELGMTFTGVDTMASYEEVLHLLRYRNWHARSLLDRKFKLICSELNGRYISNEFKVEVNVIHTANPMEHANHMAAQPQFVHPEHRSFVDLSGHNLANPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHRRTMRDQDTGKENEMDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEDDITSAESESSEEEEGEQGDPQNATRQQQLEWDDSTLSY", "length": 971, "header": "sp|O94985-2|CSTN1_HUMAN Isoform 2 of Calsyntenin-1 OS=Homo sapiens OX=9606 GN=CLSTN1 PE=1 SV=1 CANONICAL=O94985-1" }, "locus": { "chromosome": "1", "start_pos": 9823733, "end_pos": 9730511, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361311.4", "url": "https://www.ensembl.org/id/ENST00000361311.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000354997.4", "url": "https://www.ensembl.org/id/ENSP00000354997.4" } ] } }, { "isoform_ac": "Q5SR54-1", "url": "", "sequence": { "sequence": "SILRVEAVDADCSPQFSQICSYEIITPDVPFTVDKDGYIKNTEKLNYGKEHQYKLTVTAYDCGKKRATEDVLVKISIKPTCTPGWQGWNNRIEYEPGTGALAVFPNIHLETCDEPVASVQATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTAELLPSPSGSLNWTMGLPTDNGHDSDQVFEFNGTQAVRIPDGVVSVSPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSLYVHGCRLIFLFRQDPSEEKKYRPAEFHWKLNQVCDEEWHHYVLNVEFPSVTLYVDGTSHEPFSVTEDYPLHPSKIETQLVVGACWQGGDLHMTQFFRGNLAGLTLRSGKLADKKVIDCLYTCKEGLDLQVLEDSGRGVQIQAHPSQLVLTLEGEDLGELDKAMQHISYLNSRQFPTPGIRRLKITSTIKCFNEATCISVPPVDGYVMVLQPEEPKISLSGVHHFARAASEFESSEGVFLFPELRIISTITREVEPEGDGAEDPTVQESLVSEEIVHDLDTCEVTVEGEELNHEQESLEVDMARLQQKGIEVSSSELGMTFTGVDTMASYEEVLHLLRYRNWHARSLLDRKFKLICSELNGRYISNEFKVEVNVIHTANPMEHANHMAAQPQFVHPEHRSFVDLSGHNLANPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHRRTMRDQDTGKENEMDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEDDITSAESESSEEEEGEQGDPQNATRQQQLEWDDSTLSY", "length": 782, "header": "tr|Q5SR54-1|Q5SR54_HUMAN Computationally mapped isoform of Calsyntenin 1 OS=Homo sapiens OX=9606 GN=CLSTN1 PE=1 SV=1 CANONICAL=O94985-1" }, "locus": { "chromosome": "1", "start_pos": 9751581, "end_pos": 9730511, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435891.5", "url": "https://www.ensembl.org/id/ENST00000435891.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401934.1", "url": "https://www.ensembl.org/id/ENSP00000401934.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 149, "start_aa": "Thr", "end_pos": 149, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr149", "evidence": [ { "id": "O94985", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LTVTAYDCGK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 235, "start_aa": "Leu", "end_pos": 244, "end_aa": "Lys", "evidence": [ { "id": "O94985", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 346, "start_aa": "Asn", "end_pos": 346, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn346", "evidence": [ { "id": "O94985", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94985#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 366, "start_aa": "Asn", "end_pos": 366, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn366", "evidence": [ { "id": "O94985", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94985#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "evidence": [ { "id": "O94985", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94985#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 815, "start_aa": "Thr", "end_pos": 815, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr815", "evidence": [ { "id": "O94985", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O94985", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94985" }, { "id": "27566657", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27566657" }, { "id": "26136220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26136220" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O94985", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O94985", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "The calsyntenins - a family of postsynaptic membrane proteins with distinct neuronal expression patterns.", "journal": "Mol. Cell. Neurosci.", "date": "2002", "authors": "Hintsch G, Zurlinden A, Meskenaite V, Steuble M, Fink-Widmer K, Kinter J, Sonderegger P", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "reference": [ { "type": "PubMed", "id": "12498782", "url": "https://glygen.org/publication/PubMed/12498782" } ] }, { "title": "Novel cadherin-related membrane proteins, Alcadeins, enhance the X11-like protein-mediated stabilization of amyloid beta-protein precursor metabolism.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Araki Y, Tomita S, Yamaguchi H, Miyagi N, Sumioka A, Kirino Y, Suzuki T", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "reference": [ { "type": "PubMed", "id": "12972431", "url": "https://glygen.org/publication/PubMed/12972431" } ] }, { "title": "Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Araki Y, Miyagi N, Kato N, Yoshida T, Wada S, Nishimura M, Komano H, Yamamoto T, De Strooper B, Yamamoto K, Suzuki T", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" }, { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" } ], "reference": [ { "type": "PubMed", "id": "15037614", "url": "https://glygen.org/publication/PubMed/15037614" } ] }, { "title": "The novel cargo Alcadein induces vesicle association of kinesin-1 motor components and activates axonal transport.", "journal": "EMBO J.", "date": "2007", "authors": "Araki Y, Kawano T, Taru H, Saito Y, Wada S, Miyamoto K, Kobayashi H, Ishikawa HO, Ohsugi Y, Yamamoto T, Matsuno K, Kinjo M, Suzuki T", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "reference": [ { "type": "PubMed", "id": "17332754", "url": "https://glygen.org/publication/PubMed/17332754" } ] }, { "title": "Phosphorylation of kinesin light chain 1 at serine 460 modulates binding and trafficking of calsyntenin-1.", "journal": "Journal of cell science", "date": "2011", "authors": "Vagnoni A, Rodriguez L, Manser C, De Vos KJ, Miller CC", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "reference": [ { "type": "PubMed", "id": "21385839", "url": "https://glygen.org/publication/PubMed/21385839" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O94985", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O94985", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Proteomic Analysis Reveals Aberrant O-GlcNAcylation of Extracellular Proteins from Breast Cancer Cell Secretion.", "journal": "Cancer genomics & proteomics", "date": "2015", "authors": "Netsirisawan P, Chokchaichamnankit D, Srisomsap C, Svasti J, Champattanachai V", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94985", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94985" } ], "reference": [ { "type": "PubMed", "id": "26136220", "url": "https://glygen.org/publication/PubMed/26136220" } ] }, { "title": "Calsyntenin-1 mediates hepatitis C virus replication.", "journal": "The Journal of general virology", "date": "2016", "authors": "Awan Z, Tay ES, Eyre NS, Wu LE, Beard MR, Boo I, Drummer HE, George J, Douglas MW", "evidence": [ { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" } ], "reference": [ { "type": "PubMed", "id": "27221318", "url": "https://glygen.org/publication/PubMed/27221318" } ] }, { "title": "Elevated O-GlcNAcylation of Extracellular Vesicle Proteins Derived from Metastatic Colorectal Cancer Cells.", "journal": "Cancer genomics & proteomics", "date": "2016", "authors": "Chaiyawat P, Weeraphan C, Netsirisawan P, Chokchaichamnankit D, Srisomsap C, Svasti J, Champattanachai V", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94985", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94985" } ], "reference": [ { "type": "PubMed", "id": "27566657", "url": "https://glygen.org/publication/PubMed/27566657" } ] }, { "title": "Phosphorylation of multiple sites within an acidic region of Alcadein alpha is required for kinesin-1 association and Golgi exit of Alcadein alpha cargo.", "journal": "Molecular biology of the cell", "date": "2017", "authors": "Sobu Y, Furukori K, Chiba K, Nairn AC, Kinjo M, Hata S, Suzuki T", "evidence": [ { "database": "RefSeq", "id": "NP_001009566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009566" } ], "reference": [ { "type": "PubMed", "id": "29093024", "url": "https://glygen.org/publication/PubMed/29093024" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O94985", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "pathway": [ { "id": "hsa:22883", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22883", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6Q0N0-1", "protein_name": "Calsyntenin-1", "gene_name": "Clstn1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRRPAPALARAVRLLLAGLLYGGGVWAARVNKHKPWLEPTYHGIVTENDNTVLLDPPLIALDKDSPLRFAGEICGFKIHGQNVPFDAVVVDKSTGEGIIRSKEKLDCELQKDYTFTIQAYDCGKGPDGTGVKKSHKATVHIQVNDVNEYAPVFKEKSYKAAVVEGKQHGSILRVEAVDADCSPQFSQICSYEILTPDVPFTVDKDGYIKNTEKLNYGKEHQYKLTVTAYDCGKKRATEDVLVKISVKPTCSPGWQGWSSRIEYEPGTGALAVFPSIHLETCDEPVASVQATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTSELLPSPSSSFNWTVGLPTDNGHDSDQVFEFNGTQAVRIPDGVVTLDPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSLYVHGCRLIFLLRQDPSEEKKYRPAEFHWKLNQVCDEDWHHFVLNVEVPSVTLYVDGVSHEPFSVTEDYPLHPTKIETQLVVGACWQGGDLHMTQFFRGNLAGLTVRSGKLADKKVIDCLYTCKEGLDLQVPEDGNRGVQIQTSSSQAVLTLEGENVGELDKAMQHISYLNSRQFPTPGIRRLKITSTVKCFNEAACIEVPPVEGYVMVLQPEEPKISLSGVHHFARAASEFESPEGVSLFPELKIISTITREVEPEADGAEDPTVQESLVSEEIVHDLDTCEVTVEGEELNAEQESLEVDVARLQQKGIEVNHSDLGVVFTGVETMASYEEVLHLLRYRNWHTRSLLDRKFKLICSELNGRYLSNEFKVEVNVIHTANPVEHANHMAAQPQFVHPEHRSFVDLSGHNLASPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHQRTMRDQDTGKENEMDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEEDITSAESESSEEEEGGPGDGQNTTRQQQLEWDYSTLSY", "length": 952 }, "evidence": [ { "id": "45924575", "url": "http://www.informatics.jax.org/homology/45924575", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9EPL2-1", "protein_name": "Calsyntenin-1", "gene_name": "Clstn1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRRPAPALAPAVRLLLAGLLCGGGVWAARVNKHKPWLEPTYHGIVTENDNTVLLDPPLIALDKDSPLRFAESFEVTVTKEGEICGFKIHGQNVPFDAVVVDKSTGEGIIRSKEKLDCELQKDYTFTIQAYDCGKGPDGTGVKKSHKATVHIQVNDVNEYAPVFKEKSYKAAVVEGKQHSSILRVEAVDADCSPQFSQICSYEILTPDVPFTVDKDGYIKNTEKLNYGKEHQYKLTVTAYDCGKKRATEDVLVKISVKPTCSPGWQGWSSRIEYEPGTGALAVFPSIHLETCDEPVASVQATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTSELLPSPSSSFNWTVGLPTDNGHDSDQVFEFNGTQAVRIPDGVVTLDPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSLYVHGCRLVFLLRQDPSEEKKYRPAEFHWKLNQVCDEDWHHFVLNVEVPSVTLYVDGIPHEPFSVTEDYPLHPTKIETQLVVGACWQEYSGVESGNETEPATMASAGGDLHMTQFFRGNLAGLTVRSGKLADKKVIDCLYTCKEGLDLQVPEDANRGVQIQASSSQAVLTLEGDNVGELDKAMQHISYLNSRQFPTPGIRRLKITSTVKCFNEAACIEVPPVEGYVMVLQPEEPKISLSGVHHFARAASEFESAEGISLFPELRIISTITREVEPEADGSEDPTVQESLVSEEIVHDLDTCEVTVEGDELNAEQESLEVDVTRLQQKGIEASHSDLGVVFTGVETMASYEEVLHLLRYRNWHTRSLLDRKFKLICSELNGRYLSNEFKVEVNVIHTANPVEHANHMAAQPQFVHPEHRSFVDLSGHNLANPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHQRTMRDQDTGKENEMDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEEDITSAESESSEEEEGGPGDGQNATRQLEWDDSTLSY", "length": 979 }, "evidence": [ { "id": "45924575", "url": "http://www.informatics.jax.org/homology/45924575", "database": "MGI" }, { "id": "O94985", "url": "https://omabrowser.org/oma/group/O94985/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "postsynaptic endosome", "id": "GO:0098845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098845", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "neurotransmitter receptor transport to postsynaptic membrane", "id": "GO:0098969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098969", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "vesicle-mediated transport in synapse", "id": "GO:0099003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099003", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" }, { "name": "X11-like protein binding", "id": "GO:0042988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042988", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "calsyntenin-1 O-glycosylated 1 (human)", "definition": "A calsyntenin-1 (human) that has been O-glycosylated at the residue equivalent to Thr-149 of the amino acid sequence represented by UniProtKB:O94985-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O94985-1, Thr-149, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050895", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050895" } ] } ], "site_annotation": [ { "start_pos": 346, "end_pos": 348, "annotation": "n_glycosylation_sequon" }, { "start_pos": 366, "end_pos": 368, "annotation": "n_glycosylation_sequon" }, { "start_pos": 515, "end_pos": 517, "annotation": "n_glycosylation_sequon" }, { "start_pos": 965, "end_pos": 967, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proteolytically processed under normal cellular conditions (PubMed:15037614). A primary zeta-cleavage generates a large extracellular (soluble) N-terminal domain (sAlc) and a short C-terminal transmembrane fragment (CTF1) (PubMed:15037614). A secondary cleavage catalyzed by presenilin gamma-secretase within the transmembrane domain releases the beta-Alc-alpha chain in the extracellular milieu and produces an intracellular fragment (AlcICD) (PubMed:15037614). This processing is strongly suppressed in the tripartite complex formed with APBA2 and APP, which seems to prevent the association with PSEN1 (PubMed:15037614).", "evidence": [ { "database": "UniProtKB", "id": "O94985", "url": "https://www.uniprot.org/uniprot/O94985" }, { "database": "PubMed", "id": "15037614", "url": "https://glygen.org/publication/PubMed/15037614" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 346, 366, 515 ], "o_linked_sites": [ 149, 235, 815 ], "snv_sites": [ 50, 51, 138, 254, 272, 346, 366, 515, 540, 654, 815, 975 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 346, "end_pos": 348 }, { "start_pos": 366, "end_pos": 368 }, { "start_pos": 515, "end_pos": 517 }, { "start_pos": 965, "end_pos": 967 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }