{ "uniprot_canonical_ac": "P08133-1", "uniprot_ac": "P08133", "uniprot_id": "ANXA6_HUMAN", "mass": { "chemical_mass": 75873.0, "monoisotopic_mass": 75873.0 }, "refseq": { "ac": "NP_001146", "name": "annexin A6 isoform 1", "summary": "Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" }, "gene_names": [ { "name": "ANXA6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08133", "id": "P08133" }, { "name": "ANX6; CBP68; CPB-II; p68; p70", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146", "id": "NP_001146" }, { "name": "ANX6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08133", "id": "P08133" }, { "name": "ANXA6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146", "id": "NP_001146" }, { "name": "hCG_39152", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08133", "id": "P08133" } ], "protein_names": [ { "name": "Annexin A6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08133" }, { "name": "67 kDa calelectrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "Annexin VI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "Annexin-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "CPB-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "Calphobindin-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "Chromobindin-20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "Lipocortin VI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "Protein III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "annexin A6 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146", "id": "NP_001146" }, { "name": "annexin VI (p68); calcium-binding protein p68; calphobindin II; calelectrin; annexin-6; lipocortin VI; chromobindin-20; 67 kDa calelectrin; testis secretory sperm-binding protein Li 198a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146", "id": "NP_001146" }, { "name": "p68", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" }, { "name": "p70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08133" } ], "function": [ { "annotation": "Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" }, { "database": "PubMed", "id": "35022465", "url": "https://glygen.org/publication/PubMed/35022465" } ] }, { "annotation": "Annexin A6 mediates calcium-dependent exosome secretion during plasma membrane repair. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" }, { "database": "PubMed", "id": "37204294", "url": "https://glygen.org/publication/PubMed/37204294" } ] }, { "annotation": "Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" } ] }, { "annotation": "Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish.", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" }, { "database": "PubMed", "id": "36958013", "url": "https://glygen.org/publication/PubMed/36958013" } ] }, { "annotation": "Comprehensive analysis the diagnosis, malignant progression and immune infiltrate of ANXA6 in prostate cancer. Erratum:[Genes Genomics. 2023 Jul 13;:. PMID: 37450236]", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" }, { "database": "PubMed", "id": "37311953", "url": "https://glygen.org/publication/PubMed/37311953" } ] }, { "annotation": "May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.", "evidence": [ { "database": "UniProtKB", "id": "E5RJF5", "url": "https://www.uniprot.org/uniprot/E5RJF5#function" }, { "database": "UniProtKB", "id": "ARBA00025332", "url": "https://www.uniprot.org/uniprot/ARBA00025332#function" }, { "database": "UniProtKB", "id": "E5RI05", "url": "https://www.uniprot.org/uniprot/E5RI05#function" }, { "database": "UniProtKB", "id": "E5RK63", "url": "https://www.uniprot.org/uniprot/E5RK63#function" }, { "database": "UniProtKB", "id": "E5RJR0", "url": "https://www.uniprot.org/uniprot/E5RJR0#function" }, { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133#function" }, { "database": "UniProtKB", "id": "E7EMC6", "url": "https://www.uniprot.org/uniprot/E7EMC6#function" }, { "database": "UniProtKB", "id": "A0A0S2Z377", "url": "https://www.uniprot.org/uniprot/A0A0S2Z377#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs763536472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763536472" }, { "id": "rs763536472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763536472" }, { "id": "rs763536472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763536472#frequency_tab" }, { "id": "rs763536472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763536472" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 149, "end_pos": 149, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "5", "chr_pos": "151136300", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582003760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582003760" }, { "id": "rs1582003760", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582003760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 221, "end_pos": 221, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "5", "chr_pos": "151132551", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349846155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349846155" }, { "id": "rs1349846155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1349846155#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "5", "chr_pos": "151132547", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1316074026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316074026" }, { "id": "rs1316074026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316074026" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 249, "end_pos": 249, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IRS->NRS).", "chr_id": "5", "chr_pos": "151131280", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1451248611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451248611" }, { "id": "rs1451248611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451248611" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 271, "end_pos": 271, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "5", "chr_pos": "151129514", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08133", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08133" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 314, "end_pos": 314, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "5", "chr_pos": "151128216", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K314", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC77-1", "url": "https://www.uniprot.org/uniprot/H0YC77-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08133-1", "url": "https://www.uniprot.org/uniprot/P08133-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08133-2", "url": "https://www.uniprot.org/uniprot/P08133-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVVLLQGTREEDDVVSEDLVQQDVQDLYEAGELKWGTDEAQFIYILGNRSKQHLRLVFDEYLKTTGKPIEASIRGELSGDFEKLMLAVVKCIRSTPEYFAERLFKAMKGLGTRDNTLIRIMVSRSELDMLDIREIFRTKYEKSLYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPEAAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKAMKGLGTDEDTIIDIITHRSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEGAGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQVAAEILEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED", "length": 673, "header": "sp|P08133-1|ANXA6_HUMAN Isoform 1 of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=3 CANONICAL=P08133-1" }, "isoforms": [ { "isoform_ac": "A0A0S2Z377-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVVLLQGTREEDDVVSEDLVQQDVQDLYEAGELKWGTDEAQFIYILGNRSKQHLRLVFDEYLKTTGKPIEASIRGELSGDFEKLMLAVVKCIRSTPEYFAERLFKAMKGLGTRDNTLIRIMVSRSELDMLDIREIFRTKYEKSLYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPEAAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKAMKGLGTDEDTIIDIITHRSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEGAGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED", "length": 667, "header": "tr|A0A0S2Z377-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151101451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700367.1", "url": "https://www.ensembl.org/id/ENST00000700367.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514965.1", "url": "https://www.ensembl.org/id/ENSP00000514965.1" } ] } }, { "isoform_ac": "E5RFF0-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLK", "length": 156, "header": "tr|E5RFF0-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151101481, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517486.5", "url": "https://www.ensembl.org/id/ENST00000517486.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428916.1", "url": "https://www.ensembl.org/id/ENSP00000428916.1" } ] } }, { "isoform_ac": "E5RI05-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTYTRQGN", "length": 129, "header": "tr|E5RI05-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151133166, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517677.5", "url": "https://www.ensembl.org/id/ENST00000517677.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430826.1", "url": "https://www.ensembl.org/id/ENSP00000430826.1" } ] } }, { "isoform_ac": "E5RIU8-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGGLSDVGT", "length": 95, "header": "tr|E5RIU8-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=2 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151126424, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519644.6", "url": "https://www.ensembl.org/id/ENST00000519644.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000430663.2", "url": "https://www.ensembl.org/id/ENSP00000430663.2" } ] } }, { "isoform_ac": "E5RJF5-1", "url": "", "sequence": { "sequence": "MKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVVL", "length": 129, "header": "tr|E5RJF5-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=8 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151140165, "end_pos": 151136262, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517757.5", "url": "https://www.ensembl.org/id/ENST00000517757.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430572.1", "url": "https://www.ensembl.org/id/ENSP00000430572.1" } ] } }, { "isoform_ac": "E5RJR0-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGT", "length": 110, "header": "tr|E5RJR0-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151137310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523164.1", "url": "https://www.ensembl.org/id/ENST00000523164.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431078.1", "url": "https://www.ensembl.org/id/ENSP00000431078.1" } ] } }, { "isoform_ac": "E5RK63-1", "url": "", "sequence": { "sequence": "MKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVVLLQGTREEDDVVSEDLVQQDVQ", "length": 150, "header": "tr|E5RK63-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151140165, "end_pos": 151134427, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521749.5", "url": "https://www.ensembl.org/id/ENST00000521749.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430429.1", "url": "https://www.ensembl.org/id/ENSP00000430429.1" } ] } }, { "isoform_ac": "E5RK69-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLNELDMLDIREIFRTKYEKSLYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPEAAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKAMKGLGTDEDTIIDIITHRSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEGAGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED", "length": 460, "header": "tr|E5RK69-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151101451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521512.5", "url": "https://www.ensembl.org/id/ENST00000521512.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430420.1", "url": "https://www.ensembl.org/id/ENSP00000430420.1" } ] } }, { "isoform_ac": "E7EMC6-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEGAGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQVAAEILEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED", "length": 330, "header": "tr|E7EMC6-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151101451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377751.9", "url": "https://www.ensembl.org/id/ENST00000377751.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000366980.5", "url": "https://www.ensembl.org/id/ENSP00000366980.5" } ] } }, { "isoform_ac": "H0YC77-1", "url": "", "sequence": { "sequence": "XADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGRARVLDQEFGCLGSNLHLPCTCF", "length": 91, "header": "tr|H0YC77-1|ANXA6_HUMAN Computationally mapped isoform of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=1 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151105272, "end_pos": 151100890, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522664.5", "url": "https://www.ensembl.org/id/ENST00000522664.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431086.1", "url": "https://www.ensembl.org/id/ENSP00000431086.1" } ] } }, { "isoform_ac": "P08133-1", "url": "", "sequence": { "sequence": "MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVVLLQGTREEDDVVSEDLVQQDVQDLYEAGELKWGTDEAQFIYILGNRSKQHLRLVFDEYLKTTGKPIEASIRGELSGDFEKLMLAVVKCIRSTPEYFAERLFKAMKGLGTRDNTLIRIMVSRSELDMLDIREIFRTKYEKSLYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPEAAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKAMKGLGTDEDTIIDIITHRSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEGAGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQVAAEILEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED", "length": 673, "header": "sp|P08133-1|ANXA6_HUMAN Isoform 1 of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=3 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151147901, "end_pos": 151101451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354546.10", "url": "https://www.ensembl.org/id/ENST00000354546.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000346550.5", "url": "https://www.ensembl.org/id/ENSP00000346550.5" } ] } }, { "isoform_ac": "P08133-2", "url": "", "sequence": { "sequence": "MKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVVLLQGTREEDDVVSEDLVQQDVQDLYEAGELKWGTDEAQFIYILGNRSKQHLRLVFDEYLKTTGKPIEASIRGELSGDFEKLMLAVVKCIRSTPEYFAERLFKAMKGLGTRDNTLIRIMVSRSELDMLDIREIFRTKYEKSLYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPEAAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKAMKGLGTDEDTIIDIITHRSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEGAGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQVAAEILEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED", "length": 641, "header": "sp|P08133-2|ANXA6_HUMAN Isoform 2 of Annexin A6 OS=Homo sapiens OX=9606 GN=ANXA6 PE=1 SV=3 CANONICAL=P08133-1" }, "locus": { "chromosome": "5", "start_pos": 151140165, "end_pos": 151101451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523714.5", "url": "https://www.ensembl.org/id/ENST00000523714.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430517.1", "url": "https://www.ensembl.org/id/ENSP00000430517.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 221, "start_aa": "Thr", "end_pos": 221, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr221", "evidence": [ { "id": "P08133", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "P08133", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08133" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "evidence": [ { "id": "P08133", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "P08133", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08133" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 628, "start_aa": "Ser", "end_pos": 628, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser628", "evidence": [ { "id": "P08133", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08133" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 630, "start_aa": "Ser", "end_pos": 630, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser630", "evidence": [ { "id": 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229, "end_pos": 229, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser229" }, { "start_pos": 251, "end_pos": 251, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser251" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08133", "url": 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guanylate cyclase.", "journal": "Nature", "date": "2001", "authors": "Stasch JP, Becker EM, Alonso-Alija C, Apeler H, Dembowsky K, Feurer A, Gerzer R, Minuth T, Perzborn E, Pleiss U, Schroder H, Schroeder W, Stahl E, Steinke W, Straub A, Schramm M", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11242081", "url": "https://glygen.org/publication/PubMed/11242081" } ] }, { "title": "Invited review: cross-bridge regulation by thin filament-associated proteins.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2001", "authors": "Morgan KG, Gangopadhyay SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11457814", "url": "https://glygen.org/publication/PubMed/11457814" } ] }, { "title": "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.", "journal": "Human molecular genetics", "date": "2001", "authors": "Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11532985", "url": "https://glygen.org/publication/PubMed/11532985" } ] }, { "title": "Functional and biochemical analysis of endothelial (dys)function and NO/cGMP signaling in human blood vessels with and without nitroglycerin pretreatment.", "journal": "Circulation", "date": "2002", "authors": "Schulz E, Tsilimingas N, Rinze R, Reiter B, Wendt M, Oelze M, Woelken-Weckmuller S, Walter U, Reichenspurner H, Meinertz T, Munzel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11889009", "url": "https://glygen.org/publication/PubMed/11889009" } ] }, { "title": "Identification of the enzymatic mechanism of nitroglycerin bioactivation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Chen Z, Zhang J, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "12048254", "url": "https://glygen.org/publication/PubMed/12048254" } ] }, { "title": "Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14506282", "url": "https://glygen.org/publication/PubMed/14506282" } ] }, { "title": "Smooth muscle contraction and relaxation.", "journal": "Advances in physiology education", "date": "2003", "authors": "Webb RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14627618", "url": "https://glygen.org/publication/PubMed/14627618" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.", "journal": "Biochem. J.", "date": "2004", "authors": "Aboulaich N, Vainonen JP, Stralfors P, Vener AV", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "15242332", "url": "https://glygen.org/publication/PubMed/15242332" } ] }, { "title": "Contribution of aldehyde dehydrogenase to mitochondrial bioactivation of nitroglycerin: evidence for the activation of purified soluble guanylate cyclase through direct formation of nitric oxide.", "journal": "The Biochemical journal", "date": "2005", "authors": "Kollau A, Hofer A, Russwurm M, Koesling D, Keung WM, Schmidt K, Brunner F, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "15377279", "url": "https://glygen.org/publication/PubMed/15377279" } ] }, { "title": "Human platelet myosin light chain kinase requires the calcium-binding protein calmodulin for activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1979", "authors": "Hathaway DR, Adelstein RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "156362", "url": "https://glygen.org/publication/PubMed/156362" } ] }, { "title": "Bioactivation of nitroglycerin by the mitochondrial aldehyde dehydrogenase.", "journal": "Trends in cardiovascular medicine", "date": "2006", "authors": "Chen Z, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "17055381", "url": "https://glygen.org/publication/PubMed/17055381" } ] }, { "title": "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.", "journal": "J. Proteome Res.", "date": "2006", "authors": "Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "17081065", "url": "https://glygen.org/publication/PubMed/17081065" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P08133-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P08133-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P08133-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Molecular pharmacology of human Cav3.2 T-type Ca2+ channels: block by antihypertensives, antiarrhythmics, and their analogs.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2009", "authors": "Perez-Reyes E, Van Deusen AL, Vitko I", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "18974361", "url": "https://glygen.org/publication/PubMed/18974361" } ] }, { "title": "The molecular anatomy of caldesmon.", "journal": "The Biochemical journal", "date": "1991", "authors": "Marston SB, Redwood CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "1930128", "url": "https://glygen.org/publication/PubMed/1930128" } ] }, { "title": "Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "19380584", "url": "https://glygen.org/publication/PubMed/19380584" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" }, { "database": "iPTMnet", "id": "P08133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P08133-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Structure and properties of calphobindin II, an anticoagulant protein from human placenta.", "journal": "J. Biochem.", "date": "1990", "authors": "Yoshizaki H, Mizoguchi T, Arai K, Shiratsuchi M, Shidara Y, Maki M", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "2139657", "url": "https://glygen.org/publication/PubMed/2139657" } ] }, { "title": "In vivo imaging of molecular interactions at damaged sarcolemma.", "journal": "Developmental cell", "date": "2012", "authors": "Roostalu U, Strahle U", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22421042", "url": "https://glygen.org/publication/PubMed/22421042" } ] }, { "title": "Cinaciguat, a soluble guanylate cyclase activator, unloads the heart but also causes hypotension in acute decompensated heart failure.", "journal": "European heart journal", "date": "2013", "authors": "Erdmann E, Semigran MJ, Nieminen MS, Gheorghiade M, Agrawal R, Mitrovic V, Mebazaa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22778174", "url": "https://glygen.org/publication/PubMed/22778174" } ] }, { "title": "Low threshold T-type calcium channels as targets for novel epilepsy treatments.", "journal": "British journal of clinical pharmacology", "date": "2014", "authors": "Powell KL, Cain SM, Snutch TP, O'Brien TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "23834404", "url": "https://glygen.org/publication/PubMed/23834404" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" }, { "database": "iPTMnet", "id": "P08133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Calcium channel blockers in cardiovascular pharmacotherapy.", "journal": "Journal of cardiovascular pharmacology and therapeutics", "date": "2014", "authors": "Godfraind T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "24872348", "url": "https://glygen.org/publication/PubMed/24872348" } ] }, { "title": "Characterization and differential expression of human vascular smooth muscle myosin light chain 2 isoform in nonmuscle cells.", "journal": "Biochemistry", "date": "1989", "authors": "Kumar CC, Mohan SR, Zavodny PJ, Narula SK, Leibowitz PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2526655", "url": "https://glygen.org/publication/PubMed/2526655" } ] }, { "title": "Structure and expression of cDNA for calphobindin II, a human placental coagulation inhibitor.", "journal": "J. Biochem.", "date": "1989", "authors": "Iwasaki A, Suda M, Watanabe M, Nakao H, Hattori Y, Nagoya T, Saino Y, Shidara Y, Maki M", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "2528541", "url": "https://glygen.org/publication/PubMed/2528541" } ] }, { "title": "The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential.", "journal": "Pharmacological reviews", "date": "2015", "authors": "Zamponi GW, Striessnig J, Koschak A, Dolphin AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "26362469", "url": "https://glygen.org/publication/PubMed/26362469" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "A0A0S2Z377", "url": "https://www.uniprot.org/uniprot/A0A0S2Z377" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "The distribution of heavy-chain isoforms of myosin in airways smooth muscle from adult and neonate humans.", "journal": "The Biochemical journal", "date": "1989", "authors": "Mohammad MA, Sparrow MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2764880", "url": "https://glygen.org/publication/PubMed/2764880" } ] }, { "title": "Formation of Nitric Oxide by Aldehyde Dehydrogenase-2 Is Necessary and Sufficient for Vascular Bioactivation of Nitroglycerin.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Opelt M, Eroglu E, Waldeck-Weiermair M, Russwurm M, Koesling D, Malli R, Graier WF, Fassett JT, Schrammel A, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "27679490", "url": "https://glygen.org/publication/PubMed/27679490" } ] }, { "title": "Direct comparison of tadalafil with sildenafil for the treatment of erectile dysfunction: a systematic review and meta-analysis.", "journal": "International urology and nephrology", "date": "2017", "authors": "Gong B, Ma M, Xie W, Yang X, Huang Y, Sun T, Luo Y, Huang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "28741090", "url": "https://glygen.org/publication/PubMed/28741090" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" }, { "database": "O-GlcNAc Atlas", "id": "P08133", "url": "https://oglcnac.org/atlas/detail/P08133" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Human 67-kDa calelectrin contains a duplication of four repeats found in 35-kDa lipocortins.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "S\u00fcdhof T C, Slaughter C A, Leznicki I, Barjon P, Reynolds G A", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "2963335", "url": "https://glygen.org/publication/PubMed/2963335" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" }, { "database": "O-GlcNAc Atlas", "id": "P08133", "url": "https://oglcnac.org/atlas/detail/P08133" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Primary structure of the human, membrane-associated Ca2+-binding protein p68 a novel member of a protein family.", "journal": "EMBO J.", "date": "1988", "authors": "Crompton M R, Owens R J, Totty N F, Moss S E, Waterfield M D, Crumpton M J", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "3258820", "url": "https://glygen.org/publication/PubMed/3258820" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.", "journal": "Scientific reports", "date": "2022", "authors": "Jose J, Hoque M, Engel J, Beevi SS, Wahba M, Georgieva MI, Murphy KJ, Hughes WE, Cochran BJ, Lu A, Tebar F, Hoy AJ, Timpson P, Rye KA, Enrich C, Rentero C, Grewal T", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" } ], "reference": [ { "type": "PubMed", "id": "35022465", "url": "https://glygen.org/publication/PubMed/35022465" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08133", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08133" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish.", "journal": "Biology of the cell", "date": "2023-03-23", "authors": "Gounou C\u00e9line, Bouvet Flora, Liet Benjamin, Prouzet-Maul\u00e9on Val\u00e9rie, d'Agata L\u00e9na, Hart\u00e9 Etienne, Argoul Fran\u00e7oise, Siegfried G\u00e9raldine, Iggo Richard, Khatib Abdel-Majid, Bouter Anthony", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" } ], "reference": [ { "type": "PubMed", "id": "36958013", "url": "https://glygen.org/publication/PubMed/36958013" } ] }, { "title": "Annexin A6 mediates calcium-dependent exosome secretion during plasma membrane repair.", "journal": "eLife", "date": "2023-05-19", "authors": "Williams Justin Krish, Ngo Jordan Matthew, Lehman Isabelle Madeline, Schekman Randy", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" } ], "reference": [ { "type": "PubMed", "id": "37204294", "url": "https://glygen.org/publication/PubMed/37204294" } ] }, { "title": "Comprehensive analysis the diagnosis, malignant progression and immune infiltrate of ANXA6 in prostate cancer.", "journal": "Genes & genomics", "date": "2023-09", "authors": "Huang Banggao, Yang Kewei", "evidence": [ { "database": "RefSeq", "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146" } ], "reference": [ { "type": "PubMed", "id": "37311953", "url": "https://glygen.org/publication/PubMed/37311953" } ] }, { "title": "Isoforms of myosin and actin in human, monkey and rat myometrium. Comparison of pregnant and non-pregnant uterus proteins.", "journal": "European journal of biochemistry", "date": "1986", "authors": "Cavaille F, Janmot C, Ropert S, d'Albis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "3780718", "url": "https://glygen.org/publication/PubMed/3780718" } ] }, { "title": "Phosphatidylinositol 3-kinase signals activation of p70 S6 kinase in situ through site-specific p70 phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Weng QP, Andrabi K, Klippel A, Kozlowski MT, Williams LT, Avruch J", "evidence": [ { "database": "iPTMnet", "id": "P08133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08133" } ], "reference": [ { "type": "PubMed", "id": "7777579", "url": "https://glygen.org/publication/PubMed/7777579" } ] }, { "title": "The structure of recombinant human annexin VI in crystals and membrane-bound.", "journal": "J. Mol. Biol.", "date": "1996", "authors": "Benz J, Bergner A, Hofmann A, Demange P, G\u00f6ttig P, Liemann S, Huber R, Voges D", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "reference": [ { "type": "PubMed", "id": "8709144", "url": "https://glygen.org/publication/PubMed/8709144" } ] }, { "title": "Sildenafil: an orally active type 5 cyclic GMP-specific phosphodiesterase inhibitor for the treatment of penile erectile dysfunction.", "journal": "International journal of impotence research", "date": "1996", "authors": "Boolell M, Allen MJ, Ballard SA, Gepi-Attee S, Muirhead GJ, Naylor AM, Osterloh IH, Gingell C", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "8858389", "url": "https://glygen.org/publication/PubMed/8858389" } ] }, { "title": "Cardiovascular T-type calcium channels: physiological and pharmacological significance.", "journal": "Journal of hypertension. Supplement : official journal of the International Society of Hypertension", "date": "1997", "authors": "Triggle DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "9481611", "url": "https://glygen.org/publication/PubMed/9481611" } ] }, { "title": "Effects of sildenafil on the relaxation of human corpus cavernosum tissue in vitro and on the activities of cyclic nucleotide phosphodiesterase isozymes.", "journal": "The Journal of urology", "date": "1998", "authors": "Ballard SA, Gingell CJ, Tang K, Turner LA, Price ME, Naylor AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "9598563", "url": "https://glygen.org/publication/PubMed/9598563" } ] }, { "title": "Sildenafil, a novel inhibitor of phosphodiesterase type 5 in human corpus cavernosum 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monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "chondroitin sulfate binding", "id": "GO:0035374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035374", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "zymogen granule membrane", "id": "GO:0042589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042589", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P08133", "url": "https://www.uniprot.org/uniprot/P08133" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte differentiation", "id": "GO:0003418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003418", "evidence": [ { "database": "UniProtKB", "id": 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