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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071" } ], "common_name": "Human" } ], "gene": [ { "name": "EFCAB14", "url": "https://www.uniprot.org/uniprot/O75071", "locus": { "chromosome": "1", "start_pos": 46674659, "end_pos": 46719146, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000159658", "url": "https://www.ensembl.org/id/ENSG00000159658" } ] } } ], "crossref": [ { "id": "ENSG00000159658", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159658", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75071", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75071", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "EFCAB14", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB14", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9813", "url": "https://www.ncbi.nlm.nih.gov/gene/9813", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1198", "url": "https://glyconnect.expasy.org/browser/proteins/1198", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "29051", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29051", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75071", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75071*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011992", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042352", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042352", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9813", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9813", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "619559", "url": "http://www.omim.org/entry/619559", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75071", "url": "https://www.nextprot.org/entry/NX_O75071", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75071", "url": "https://oglcnac.org/atlas/detail/O75071", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "TEYCKKE", "url": "https://omabrowser.org/oma/group/TEYCKKE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4252627at2759", "url": "http://www.orthodb.org/?query=4252627at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15717", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15717", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15717:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15717:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "O75071", "url": "https://pharos.nih.gov/targets/O75071", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75071", "url": "http://purl.obolibrary.org/obo/PR_O75071", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_055589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055589", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75071", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A6I8PIF8", "url": "https://www.uniprot.org/uniprot/A0A6I8PIF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PIF8-1", "url": "https://www.uniprot.org/uniprot/A0A6I8PIF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PIP2", "url": "https://www.uniprot.org/uniprot/A0A6I8PIP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PIP2-1", "url": "https://www.uniprot.org/uniprot/A0A6I8PIP2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PS42", "url": "https://www.uniprot.org/uniprot/A0A6I8PS42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PS42-1", "url": "https://www.uniprot.org/uniprot/A0A6I8PS42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PU78", "url": "https://www.uniprot.org/uniprot/A0A6I8PU78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6I8PU78-1", "url": "https://www.uniprot.org/uniprot/A0A6I8PU78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804H3B5", "url": "https://www.uniprot.org/uniprot/A0A804H3B5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804H3B5-1", "url": "https://www.uniprot.org/uniprot/A0A804H3B5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75071-1", "url": "https://www.uniprot.org/uniprot/O75071-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R3Q1", "url": "https://www.uniprot.org/uniprot/S4R3Q1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R3Q1-1", "url": "https://www.uniprot.org/uniprot/S4R3Q1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVEKKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVESFTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEDLQDLFRKTGQDVDGKLTYQEIWTSLGSAMPEPESLRAFDSDGDGRYSFLELRVALGI", "length": 495, "header": "sp|O75071-1|EFC14_HUMAN Isoform 1 of EF-hand calcium-binding domain-containing protein 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "isoforms": [ { "isoform_ac": "A0A6I8PIF8-1", "url": "", "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVEKKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVESFTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEEWLYHVTFPSAMCEGSIHFLHILPNA", "length": 463, "header": "tr|A0A6I8PIF8-1|EFC14_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46718087, "end_pos": 46680060, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674263.1", "url": "https://www.ensembl.org/id/ENST00000674263.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501323.1", "url": "https://www.ensembl.org/id/ENSP00000501323.1" } ] } }, { "isoform_ac": "A0A6I8PIP2-1", "url": "", "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVESFTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEDLQDLFRKTGQDVDGKLTYQEIWTSLGSAMPEPESLRAFDSDGDGRYSFLELRVALGI", "length": 431, "header": "tr|A0A6I8PIP2-1|A0A6I8PIP2_HUMAN Computationally mapped isoform of EF-hand calcium binding domain 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46718087, "end_pos": 46678464, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674435.1", "url": "https://www.ensembl.org/id/ENST00000674435.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501394.1", "url": "https://www.ensembl.org/id/ENSP00000501394.1" } ] } }, { "isoform_ac": "A0A6I8PS42-1", "url": "", "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTSNGI", "length": 115, "header": "tr|A0A6I8PS42-1|A0A6I8PS42_HUMAN Computationally mapped isoform of EF-hand calcium binding domain 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46718087, "end_pos": 46708045, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674268.1", "url": "https://www.ensembl.org/id/ENST00000674268.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501525.1", "url": "https://www.ensembl.org/id/ENSP00000501525.1" } ] } }, { "isoform_ac": "A0A6I8PU78-1", "url": "", "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVEKKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVESFTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEGKFLYHGVVMGMFKVITF", "length": 455, "header": "tr|A0A6I8PU78-1|EFC14_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46718087, "end_pos": 46683247, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674415.1", "url": "https://www.ensembl.org/id/ENST00000674415.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501464.1", "url": "https://www.ensembl.org/id/ENSP00000501464.1" } ] } }, { "isoform_ac": "A0A804H3B5-1", "url": "", "sequence": { "sequence": "MEGSSKAGRELGIGYEPGSSGVGAPLTPHKKMKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVEKKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVESFTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEDLQDLFRKTGQDVDGKLTYQEIWTSLGSAMPEPESLRAFDSDGDGRYSFLELRVALGI", "length": 526, "header": "tr|A0A804H3B5-1|A0A804H3B5_HUMAN Computationally mapped isoform of EF-hand calcium binding domain 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46718180, "end_pos": 46678464, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672422.2", "url": "https://www.ensembl.org/id/ENST00000672422.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499873.2", "url": "https://www.ensembl.org/id/ENSP00000499873.2" } ] } }, { "isoform_ac": "O75071-1", "url": "", "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVEKKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVESFTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEDLQDLFRKTGQDVDGKLTYQEIWTSLGSAMPEPESLRAFDSDGDGRYSFLELRVALGI", "length": 495, "header": "sp|O75071-1|EFC14_HUMAN Isoform 1 of EF-hand calcium-binding domain-containing protein 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46718087, "end_pos": 46678464, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371933.8", "url": "https://www.ensembl.org/id/ENST00000371933.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000361001.3", "url": "https://www.ensembl.org/id/ENSP00000361001.3" } ] } }, { "isoform_ac": "S4R3Q1-1", "url": "", "sequence": { "sequence": "XATSELDNKTHSENLKQMGDRSATLKRQSLDQVTNRTDTVKIQSIKFCHQLTHHQGETEERSGENL", "length": 66, "header": "tr|S4R3Q1-1|S4R3Q1_HUMAN Computationally mapped isoform of EF-hand calcium binding domain 14 OS=Homo sapiens OX=9606 GN=EFCAB14 PE=1 SV=1 CANONICAL=O75071-1" }, "locus": { "chromosome": "1", "start_pos": 46689636, "end_pos": 46685083, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487741.6", "url": "https://www.ensembl.org/id/ENST00000487741.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000474599.1", "url": "https://www.ensembl.org/id/ENSP00000474599.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 153, "start_aa": "Asn", "end_pos": 153, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn153", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 296, "start_aa": "Asn", "end_pos": 296, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn296", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 301, "start_aa": "Asn", "end_pos": 301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn301", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "1198", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1198" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 402, "start_aa": "Thr", "end_pos": 402, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr402", "evidence": [ { "id": "O75071", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75071" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "FSQFLGDPVEK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 411, "start_aa": "Phe", "end_pos": 421, "end_aa": "Lys", "evidence": [ { "id": "O75071", "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 412, "start_aa": "Ser", "end_pos": 412, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser412", "evidence": [ { "id": "O75071", "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" } ] } ], "phosphorylation": [ { "start_pos": 17, "end_pos": 17, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75071" } ], "site_lbl": "Ser17" }, { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75071" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser406" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "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": "O75071", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.", "journal": "Genome biology", "date": "2007", "authors": "Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M", "evidence": [ { "database": "RefSeq", "id": "NP_055589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055589" } ], "reference": [ { "type": "PubMed", "id": "17672918", "url": "https://glygen.org/publication/PubMed/17672918" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75071" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071" }, { "database": "iPTMnet", "id": "O75071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75071" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "O75071", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2015", "authors": "Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerstrom G, Westin G, Hellman P, Carling T, Bjorklund P, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071" } ], "reference": [ { "type": "PubMed", "id": "25787250", "url": "https://glygen.org/publication/PubMed/25787250" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1198", "url": "https://glyconnect.expasy.org/browser/proteins/1198" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O75071", "url": "https://oglcnac.org/atlas/detail/O75071" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "pathway": [ { "id": "hsa:9813", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9813", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZLM3-1", "protein_name": "EF-hand calcium binding domain 14", "gene_name": "Efcab14", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKKRKELNALIGLAGDSRRKKTKQGSSSHRLLRTEPPDSDSASSSEEEEFGAIGNRSRFVKGDYVRCCKICYPLCAFVILAACVVACVGLVWMQMALKEDLDVLKEKFRTMESNQKSSFQEIPKLNEELLSKEKQLEKIESGELGLSRVWTNITEMNKQISLLSSAVNHLKANVKSAADLLSLPSTVEGLQKSVASIGNTLNSVSLAVEAIQKTVDEHKATLELLQGSVETNGSNQIMPSPPPPSELDNRTHSESAKQDILYLHNSLEEVNSTVVGYQRQNDLKLKGMSETLSNLTQRLDLIESDVVALSKAEQRTNVSSSMMGNRAASLKRESSMTNRTDAVKAQSIKKEDNSNSQVSGLREKLQLISALTNKPESNRPPETTDEEQVQNFTSDPSTLPKFSQFLGDQTETQLKPISLPGISSIKDLQDLFHKTGQDVDGMLTYQEIWNSLGSAMPRPEHLRAFDSNGDGRYSFLELRVALGCLKPKCSQMKHEIIFFPHCSLRGSYGLSVQRMPHGAGAFW", "length": 523 }, "evidence": [ { "id": "45933648", "url": "http://www.informatics.jax.org/homology/45933648", "database": "MGI" }, { "id": "O75071", "url": "https://omabrowser.org/oma/group/O75071/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BGQ6-1", "protein_name": "EF-hand calcium-binding domain-containing protein 14", "gene_name": "Efcab14", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKKRKELNALIGLAGDHRRKKTKQGSGSHRLLRTEPPDSDSESSTDEEEFGAIGNRSRFVKGDYARCCKICCPLCAFVILAACVVASVGLVWMQMALKEDLDVLKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGELGLSRVWINITEMNKQISLLSSAVNHLKASVKSAADLLSLPSTVEGLQKSVASIGNTLNSVHLAVEVIQKTVDEHRTTLGLLQGSMENNGSNQILPSPSPPSELDNKSHSESAKQDILYLHNSLEEVNSTVVEYQRQNDLKLKGMSETLSNLTQRLSLIESHVVALSKAEQRTNVSSSTMENRAATLKRESLVTNRSDTVQAQSMKKEDNSNSQVSELREKLQLISALTNKPESNRPPETTDEEQVQNFTSDPSALPEFSQLLRNQIETQVKPLSLPGISSIKDLQDLFHKTGQDVDGMLTYQELWNSLGSAMPRPESLRAFDSNGDGRYSFLELRLALGI", "length": 484 }, "evidence": [ { "id": "45933648", "url": "http://www.informatics.jax.org/homology/45933648", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O75071", "url": "https://www.uniprot.org/uniprot/O75071" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 153, "end_pos": 155, "annotation": "n_glycosylation_sequon" }, { "start_pos": 256, "end_pos": 258, "annotation": "n_glycosylation_sequon" }, { "start_pos": 296, "end_pos": 298, "annotation": "n_glycosylation_sequon" }, { "start_pos": 301, "end_pos": 303, "annotation": "n_glycosylation_sequon" }, { "start_pos": 324, "end_pos": 326, "annotation": "n_glycosylation_sequon" }, { "start_pos": 347, "end_pos": 349, "annotation": "n_glycosylation_sequon" }, { "start_pos": 56, "end_pos": 58, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "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": [ 153, 296, 301, 324, 347 ], "o_linked_sites": [ 402, 411, 412 ], "snv_sites": [ 153, 155, 280, 324, 332, 347, 349, 402, 412 ], "glycation_sites": [], "phosphorylation_sites": [ 17, 406 ], "sequon_annotation_sites": [ { "start_pos": 153, "end_pos": 155 }, { "start_pos": 256, "end_pos": 258 }, { "start_pos": 296, "end_pos": 298 }, { "start_pos": 301, "end_pos": 303 }, { "start_pos": 324, "end_pos": 326 }, { "start_pos": 347, "end_pos": 349 }, { "start_pos": 56, "end_pos": 58 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 2 }, { "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 9 } ], "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": 10 }, { "field": "total_sites", "count": 9 } ], "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": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }