{ "uniprot_canonical_ac": "O14713-1", "uniprot_ac": "O14713", "uniprot_id": "ITBP1_HUMAN", "mass": { "chemical_mass": 21782.0, "monoisotopic_mass": 21782.0 }, "refseq": { "ac": "NP_001305995", "name": "integrin beta-1-binding protein 1 isoform 1", "summary": "The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" }, "gene_names": [ { "name": "ITGB1BP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14713", "id": "O14713" }, { "name": "ICAP-1A; ICAP-1alpha; ICAP-1B; ICAP1; ICAP1A; ICAP1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995", "id": "NP_001305995" }, { "name": "ICAP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14713", "id": "O14713" }, { "name": "ITGB1BP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995", "id": "NP_001305995" }, { "name": "hCG_1686416", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14713", "id": "O14713" } ], "protein_names": [ { "name": "Integrin beta-1-binding protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14713" }, { "name": "ICAP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14713" }, { "name": "Integrin cytoplasmic domain-associated protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14713" }, { "name": "integrin beta-1-binding protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995", "id": "NP_001305995" }, { "name": "integrin cytoplasmic domain-associated protein 1-beta; integrin cytoplasmic domain-associated protein 1-alpha; bodenin; integrin beta-1-binding protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995", "id": "NP_001305995" } ], "function": [ { "annotation": "ICAP-1 monoubiquitylation helps in switching from ROCK2-mediated to MRCKalpha-mediated cell contractility. Erratum:[J Cell Sci. 2017 Mar 15;130(6):1195. PMID: 28298614]", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" }, { "database": "PubMed", "id": "28049720", "url": "https://glygen.org/publication/PubMed/28049720" } ] }, { "annotation": "Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin- and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713#function" }, { "database": "PubMed", "id": "21768292", "url": "https://glygen.org/publication/PubMed/21768292" }, { "database": "PubMed", "id": "17916086", "url": "https://glygen.org/publication/PubMed/17916086" }, { "database": "PubMed", "id": "11741838", "url": "https://glygen.org/publication/PubMed/11741838" }, { "database": "PubMed", "id": "11807099", "url": "https://glygen.org/publication/PubMed/11807099" }, { "database": "UniProtKB", "id": "SIPAC9CE7B655EAA73D", "url": "https://www.uniprot.org/uniprot/SIPAC9CE7B655EAA73D#function" }, { "database": "PubMed", "id": "12473654", "url": "https://glygen.org/publication/PubMed/12473654" }, { "database": "PubMed", "id": "11919189", "url": "https://glygen.org/publication/PubMed/11919189" }, { "database": "PubMed", "id": "20616313", "url": "https://glygen.org/publication/PubMed/20616313" }, { "database": "PubMed", "id": "15703214", "url": "https://glygen.org/publication/PubMed/15703214" } ] }, { "annotation": "Nuclear-cytoplasmic shuttling of ICAP1 influences both integrin activation and KRIT1 localization, presumably impacting nuclear functions of KRIT1.", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" }, { "database": "PubMed", "id": "28003363", "url": "https://glygen.org/publication/PubMed/28003363" } ] }, { "annotation": "Serine phosphorylation of the small phosphoprotein ICAP1 inhibits its nuclear accumulation.", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" }, { "database": "PubMed", "id": "32005669", "url": "https://glygen.org/publication/PubMed/32005669" } ] }, { "annotation": "Site-directed mutagenesis showed that Leu(135), Ile(138), and Ile(139) of Icap1 alpha, and Leu(82) and Tyr(144), are required for the Icap1 alpha-beta(1) integrin interaction", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "annotation": "The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 135, "end_pos": 135, "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 135, "end_pos": 139, "sequence_org": "LYLII", "sequence_mut": "AYAA", "comment": "Reduces KRIT1 and ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ] }, { "start_pos": 138, "end_pos": 138, "sequence_org": "I", "sequence_mut": "A", "comment": "Abolishes ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" }, { "database": "PubMed", "id": "15703214", "url": "https://glygen.org/publication/PubMed/15703214" } ] }, { "start_pos": 139, "end_pos": 139, "sequence_org": "I", "sequence_mut": "A", "comment": "Abolishes ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 144, "end_pos": 144, "sequence_org": "Y", "sequence_mut": "T", "comment": "Abolishes ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 184, "end_pos": 184, "sequence_org": "C", "sequence_mut": "D", "comment": "Reduces KRIT1 and ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ] }, { "start_pos": 38, "end_pos": 38, "sequence_org": "T", "sequence_mut": "A", "comment": "Stimulates cell spreading on fibronectin to a similar extent as inhibition of CaMKII.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "9813144", "url": "https://glygen.org/publication/PubMed/9813144" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 38, "end_pos": 38, "sequence_org": "T", "sequence_mut": "D", "comment": "Changes in cell spreading.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "9813144", "url": "https://glygen.org/publication/PubMed/9813144" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 38, "end_pos": 38, "sequence_org": "T", "sequence_mut": "D", "comment": "Strong defect in cell spreading.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "9813144", "url": "https://glygen.org/publication/PubMed/9813144" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 6, "end_pos": 7, "sequence_org": "KK", "sequence_mut": "AA", "comment": "Abolishes nuclear import and transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "15703214", "url": "https://glygen.org/publication/PubMed/15703214" } ] }, { "start_pos": 82, "end_pos": 82, "sequence_org": "L", "sequence_mut": "A", "comment": "Reduces ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 82, "end_pos": 82, "sequence_org": "L", "sequence_mut": "Q", "comment": "No effect on ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 86, "end_pos": 86, "sequence_org": "L", "sequence_mut": "Q", "comment": "No effect on ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "start_pos": 89, "end_pos": 89, "sequence_org": "I", "sequence_mut": "R", "comment": "Reduces KRIT1 binding. No effect on ITGB1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ] }, { "start_pos": 93, "end_pos": 93, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes KRIT1 binding; when associated with A-96.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ] }, { "start_pos": 96, "end_pos": 96, "sequence_org": "Q", "sequence_mut": "A", "comment": "Abolishes KRIT1 binding; when associated with A-93.", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119185" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14713", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14713" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14713", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14713" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQYDVLHRHALYLIIRMVCYDDGLGAGKSLLALKTTDASNEEYSLWVYQCNSLVRLRYFG", "length": 184, "header": "tr|A8MPU2-1|ITBP1_HUMAN Computationally mapped isoform of Integrin beta-1-binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9407428, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359712.7", "url": "https://www.ensembl.org/id/ENST00000359712.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000352743.3", "url": "https://www.ensembl.org/id/ENSP00000352743.3" } ] } }, { "isoform_ac": "C9IZZ8-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRI", "length": 65, "header": "tr|C9IZZ8-1|ITBP1_HUMAN Computationally mapped isoform of Integrin beta-1-binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9412362, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497105.1", "url": "https://www.ensembl.org/id/ENST00000497105.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000418947.1", "url": "https://www.ensembl.org/id/ENSP00000418947.1" } ] } }, { "isoform_ac": "C9J0J6-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPL", "length": 86, "header": "tr|C9J0J6-1|ITBP1_HUMAN Computationally mapped isoform of Integrin beta-1-binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9412299, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484735.5", "url": "https://www.ensembl.org/id/ENST00000484735.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418526.1", "url": "https://www.ensembl.org/id/ENSP00000418526.1" } ] } }, { "isoform_ac": "C9J5T5-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQQDGKLPFVPPEEEFIMGV", "length": 114, "header": "tr|C9J5T5-1|C9J5T5_HUMAN Computationally mapped isoform of Integrin subunit beta 1 binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9408152, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494563.5", "url": "https://www.ensembl.org/id/ENST00000494563.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417940.1", "url": "https://www.ensembl.org/id/ENSP00000417940.1" } ] } }, { "isoform_ac": "C9J6Y2-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEG", "length": 84, "header": "tr|C9J6Y2-1|C9J6Y2_HUMAN Computationally mapped isoform of Integrin subunit beta 1 binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9412305, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460001.5", "url": "https://www.ensembl.org/id/ENST00000460001.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417850.1", "url": "https://www.ensembl.org/id/ENSP00000417850.1" } ] } }, { "isoform_ac": "C9JBU8-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQYDVLHRHALY", "length": 136, "header": "tr|C9JBU8-1|C9JBU8_HUMAN Computationally mapped isoform of Integrin subunit beta 1 binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9407572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492079.5", "url": "https://www.ensembl.org/id/ENST00000492079.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420770.1", "url": "https://www.ensembl.org/id/ENSP00000420770.1" } ] } }, { "isoform_ac": "C9JZ07-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQ", "length": 96, "header": "tr|C9JZ07-1|C9JZ07_HUMAN Computationally mapped isoform of Integrin subunit beta 1 binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9412269, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467606.5", "url": "https://www.ensembl.org/id/ENST00000467606.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419814.1", "url": "https://www.ensembl.org/id/ENSP00000419814.1" } ] } }, { "isoform_ac": "F8WF20-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKDKATIIQIPVQNFE", "length": 38, "header": "tr|F8WF20-1|F8WF20_HUMAN Computationally mapped isoform of Integrin subunit beta 1 binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9412364, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464228.5", "url": "https://www.ensembl.org/id/ENST00000464228.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419452.1", "url": "https://www.ensembl.org/id/ENSP00000419452.1" } ] } }, { "isoform_ac": "G3V1A3-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQVKKKNSVTLWL", "length": 107, "header": "tr|G3V1A3-1|ITBP1_HUMAN Computationally mapped isoform of Integrin beta-1-binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9412236, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483795.5", "url": "https://www.ensembl.org/id/ENST00000483795.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433814.1", "url": "https://www.ensembl.org/id/ENSP00000433814.1" } ] } }, { "isoform_ac": "O14713-1", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQYDVLHRHALYLIIRMVCYDDGLGAGKSLLALKTTDASNEEYSLWVYQCNSLEQAQAICKVLSTAFDSVLTSEKP", "length": 200, "header": "sp|O14713-1|ITBP1_HUMAN Isoform 1 of Integrin beta-1-binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9406837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360635.7", "url": "https://www.ensembl.org/id/ENST00000360635.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000353850.3", "url": "https://www.ensembl.org/id/ENSP00000353850.3" } ] } }, { "isoform_ac": "O14713-2", "url": "", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNNNSDTCAEFRIKYVGAIEKLKLSEGKGLEGPLDLINYIDVAQQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQYEQAQAICKVLSTAFDSVLTSEKP", "length": 150, "header": "sp|O14713-2|ITBP1_HUMAN Isoform 2 of Integrin beta-1-binding protein 1 OS=Homo sapiens OX=9606 GN=ITGB1BP1 PE=1 SV=1 CANONICAL=O14713-1" }, "locus": { "chromosome": "2", "start_pos": 9418697, "end_pos": 9406837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488451.5", "url": "https://www.ensembl.org/id/ENST00000488451.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419524.1", "url": "https://www.ensembl.org/id/ENSP00000419524.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 38, "end_pos": 38, "kinase_uniprot_canonical_ac": "Q9UQM7-1", "kinase_gene_name": "CAMK2A", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14713", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14713" }, { "database": "PubMed", "id": "9813144", "url": "https://glygen.org/publication/PubMed/9813144" } ], "site_lbl": "Thr38" }, { "start_pos": 38, "end_pos": 38, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CaMK2", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "phospho.ELM", "id": "O14713", "url": "http://phospho.elm.eu.org/byAccession/O14713.html" }, { "database": "iPTMnet", "id": "O14713", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14713" }, { "database": "PubMed", "id": "9813144", "url": "https://glygen.org/publication/PubMed/9813144" } ], "site_lbl": "Thr38" }, { "start_pos": 41, "end_pos": 41, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "site_lbl": "Ser41" }, { "start_pos": 67, "end_pos": 67, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14713", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14713" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr67" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.", "journal": "Human molecular genetics", "date": "2001", "authors": "Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "11741838", "url": "https://glygen.org/publication/PubMed/11741838" } ] }, { "title": "Molecular basis for interaction between Icap1 alpha PTB domain and beta 1 integrin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chang DD, Hoang BQ, Liu J, Springer TA", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" } ], "reference": [ { "type": "PubMed", "id": "11741908", "url": "https://glygen.org/publication/PubMed/11741908" } ] }, { "title": "The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Degani S, Balzac F, Brancaccio M, Guazzone S, Retta SF, Silengo L, Eva A, Tarone G", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "11807099", "url": "https://glygen.org/publication/PubMed/11807099" } ] }, { "title": "KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.", "journal": "Hum. Mol. Genet.", "date": "2002", "authors": "Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "11854171", "url": "https://glygen.org/publication/PubMed/11854171" } ] }, { "title": "Integrin cytoplasmic domain-associated protein 1alpha (ICAP-1alpha ) interacts directly with the metastasis suppressor nm23-H2, and both proteins are targeted to newly formed cell adhesion sites upon integrin engagement.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fournier HN, Dupe-Manet S, Bouvard D, Lacombe ML, Marie C, Block MR, Albiges-Rizo C", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "11919189", "url": "https://glygen.org/publication/PubMed/11919189" } ] }, { "title": "Disruption of focal adhesions by integrin cytoplasmic domain-associated protein-1 alpha.", "journal": "The Journal of biological chemistry", "date": "2003-02-21", "authors": "Bouvard Daniel, Vignoud Lucile, Dup\u00e9-Manet Sandra, Abed Nadia, Fournier Henri-No\u00ebl, Vincent-Monegat Carole, Retta Saverio Francesco, Fassler Reinhard, Block Marc R", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "12473654", "url": "https://glygen.org/publication/PubMed/12473654" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Nuclear translocation of integrin cytoplasmic domain-associated protein 1 stimulates cellular proliferation.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Fournier HN, Dupe-Manet S, Bouvard D, Luton F, Degani S, Block MR, Retta SF, Albiges-Rizo C", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "15703214", "url": "https://glygen.org/publication/PubMed/15703214" } ] }, { "title": "Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1.", "journal": "The FEBS journal", "date": "2007", "authors": "Beraud-Dufour S, Gautier R, Albiges-Rizo C, Chardin P, Faurobert E", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "17916086", "url": "https://glygen.org/publication/PubMed/17916086" } ] }, { "title": "Integrin cytoplasmic domain-associated protein-1 attenuates sprouting angiogenesis.", "journal": "Circulation research", "date": "2010", "authors": "Brutsch R, Liebler SS, Wustehube J, Bartol A, Herberich SE, Adam MG, Telzerow A, Augustin HG, Fischer A", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "20616313", "url": "https://glygen.org/publication/PubMed/20616313" } ] }, { "title": "Osteoblast mineralization requires beta1 integrin/ICAP-1-dependent fibronectin deposition.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Brunner M, Millon-Fremillon A, Chevalier G, Nakchbandi IA, Mosher D, Block MR, Albiges-Rizo C, Bouvard D", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "21768292", "url": "https://glygen.org/publication/PubMed/21768292" } ] }, { "title": "Nuclear Localization of Integrin Cytoplasmic Domain-associated Protein-1 (ICAP1) Influences beta1 Integrin Activation and Recruits Krev/Interaction Trapped-1 (KRIT1) to the Nucleus.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Draheim KM, Huet-Calderwood C, Simon B, Calderwood DA", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" } ], "reference": [ { "type": "PubMed", "id": "28003363", "url": "https://glygen.org/publication/PubMed/28003363" } ] }, { "title": "ICAP-1 monoubiquitylation coordinates matrix density and rigidity sensing for cell migration through ROCK2-MRCKalpha balance.", "journal": "Journal of cell science", "date": "2017", "authors": "Bouin AP, Kyumurkov A, Regent-Kloeckner M, Ribba AS, Faurobert E, Fournier HN, Bourrin-Reynard I, Manet-Dupe S, Oddou C, Balland M, Planus E, Albiges-Rizo C", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" } ], "reference": [ { "type": "PubMed", "id": "28049720", "url": "https://glygen.org/publication/PubMed/28049720" } ] }, { "title": "Serine phosphorylation of the small phosphoprotein ICAP1 inhibits its nuclear accumulation.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Su VL, Simon B, Draheim KM, Calderwood DA", "evidence": [ { "database": "RefSeq", "id": "NP_001305995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305995" } ], "reference": [ { "type": "PubMed", "id": "32005669", "url": "https://glygen.org/publication/PubMed/32005669" } ] }, { "title": "ICAP-1, a novel beta1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important NPXY sequence motif of beta1 integrin.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Chang DD, Wong C, Smith H, Liu J", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "9281591", "url": "https://glygen.org/publication/PubMed/9281591" } ] }, { "title": "Calcium/calmodulin-dependent protein kinase II controls integrin alpha5beta1-mediated cell adhesion through the integrin cytoplasmic domain associated protein-1alpha.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Bouvard D, Block MR", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" }, { "database": "iPTMnet", "id": "O14713-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14713-1" } ], "reference": [ { "type": "PubMed", "id": "9813144", "url": "https://glygen.org/publication/PubMed/9813144" } ] }, { "title": "Interaction of the integrin beta1 cytoplasmic domain with ICAP-1 protein.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zhang XA, Hemler ME", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "reference": [ { "type": "PubMed", "id": "9867804", "url": "https://glygen.org/publication/PubMed/9867804" } ] } ], "pathway": [ { "id": "hsa:9270", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9270", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A6HAV6-1", "protein_name": "Itgb1bp1 protein", "gene_name": "Itgb1bp1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNSNLDTCAEFRIKYVGAIEKLAVSEGKSLEGPLDLINYIDVAQQDGKLPFVPMEEEFILGVSKYGIKVSTMDQHGVLHRHALYLIIRMVCYDDGLGAGKSLLALKTTDASNEEYSLWVYQCNSLEQAQAICKVLSTAFDSVLTSDKS", "length": 200 }, "evidence": [ { "id": "45926445", "url": "http://www.informatics.jax.org/homology/45926445", "database": "MGI" }, { "id": "O14713", "url": "https://omabrowser.org/oma/group/O14713/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O35671-1", "protein_name": "Integrin beta-1-binding protein 1", "gene_name": "Itgb1bp1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFRKGKKRHSSSSSQSSEISTKSKSVDSSLGGLSRSSTVASLDTDSTKSSGQSNSNLDTCAEFRIKYVGAIEKLAVSEGKSLEGPLDLINYIDVAQQDGKLPFVPLEEEFILGVSKYGIKVSTTDQHGVLHRHALYLIIRMVCYDDGLGAGKSLLALKTTDASNEEYSLWVYQCNSLEQAQAICKVLSTAFDSVLTSDKS", "length": 200 }, "evidence": [ { "id": "45926445", "url": "http://www.informatics.jax.org/homology/45926445", "database": "MGI" }, { "id": "O14713", "url": "https://omabrowser.org/oma/group/O14713/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 13, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "cytosol", "id": 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], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 39, "go_terms": [ { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "regulation of cell adhesion mediated by integrin", "id": "GO:0033628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033628", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of fibroblast migration", "id": "GO:0010764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010764", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090051", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "regulation of GTPase activity", "id": "GO:0043087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043087", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of protein binding", "id": "GO:0032091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032091", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "activation of protein kinase B activity", "id": "GO:0032148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032148", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:0002043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002043", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { "name": "biomineral tissue development", "id": "GO:0031214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031214", "evidence": [ { "database": "UniProtKB", "id": "O14713", "url": "https://www.uniprot.org/uniprot/O14713" } ], "pmid": "" }, { 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