{ "uniprot_canonical_ac": "O14908-1", "uniprot_ac": "O14908", "uniprot_id": "GIPC1_HUMAN", "mass": { "chemical_mass": 36049.0, "monoisotopic_mass": 36049.0 }, "refseq": { "ac": "NP_005707", "name": "PDZ domain-containing protein GIPC1 isoform 1", "summary": "GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" }, "gene_names": [ { "name": "GIPC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14908", "id": "O14908" }, { "name": "C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1; NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707", "id": "NP_005707" }, { "name": "C19orf3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14908", "id": "O14908" }, { "name": "GIPC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707", "id": "NP_005707" }, { "name": "GIPC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14908", "id": "O14908" }, { "name": "RGS19IP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14908", "id": "O14908" } ], "protein_names": [ { "name": "PDZ domain-containing protein GIPC1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14908" }, { "name": "GAIP C-terminus-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14908" }, { "name": "GLUT1 C-terminal binding protein; IGF-1 receptor interacting protein 1; regulator of G-protein signalling 19 interacting protein 1; PDZ domain-containing protein GIPC1; tax interaction protein 2; RGS19-interacting protein 1; RGS-GAIP-interacting protein; GAIP C-terminus-interacting protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707", "id": "NP_005707" }, { "name": "PDZ domain-containing protein GIPC1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707", "id": "NP_005707" }, { "name": "RGS-GAIP-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14908" }, { "name": "RGS19-interacting protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14908" }, { "name": "Synectin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14908" }, { "name": "TIP-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14908" }, { "name": "Tax interaction protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14908" } ], "function": [ { "annotation": "Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" }, { "database": "PubMed", "id": "32413282", "url": "https://glygen.org/publication/PubMed/32413282" } ] }, { "annotation": "GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a beta1-Integrin Pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" }, { "database": "PubMed", "id": "32447051", "url": "https://glygen.org/publication/PubMed/32447051" } ] }, { "annotation": "GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" }, { "database": "PubMed", "id": "35152460", "url": "https://glygen.org/publication/PubMed/35152460" } ] }, { "annotation": "GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" } ] }, { "annotation": "Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.", "evidence": [ { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" }, { "database": "PubMed", "id": "37550168", "url": "https://glygen.org/publication/PubMed/37550168" } ] }, { "annotation": "May be involved in G protein-linked signaling.", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908#function" } ] } ], "disease": [ { "disease_id": "DOID:0081298", "recommended_name": { "id": "DOID:0081298", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081298", "name": "oculopharyngodistal myopathy 2", "description": "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13." }, "synonyms": [ { "id": "MONDO:0030134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030134", "name": "oculopharyngodistal myopathy 2", "description": "" }, { "id": "MONDO:0030134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030134", "name": "OCULOPHARYNGODISTAL MYOPATHY 2", "description": "" }, { "id": "MONDO:0030134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030134", "name": "OPDM2", "description": "" }, { "id": "MONDO:0030134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030134", "name": "oculopharyngodistal myopathy 2", "description": "" }, { "id": "MIM:618940", "resource": "MIM", "url": "https://www.omim.org/entry/618940", "name": "Oculopharyngodistal myopathy 2", "description": "Oculopharyngodistal myopathy 2" } ], "evidence": [ { "id": "618940", "database": "MIM", "url": "https://www.omim.org/entry/618940" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000123159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000123159" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14908" } ], "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", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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", 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"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 - 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"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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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}, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14908" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14908" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14908" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O14908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14908" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQMGLPPPPPALRPRLVFHTQLAHGSPTGRIEGFTNVKELYGKIAEAFRLPTAEVMFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDELAEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY", "length": 333, "header": "sp|O14908-1|GIPC1_HUMAN Isoform 1 of PDZ domain-containing protein GIPC1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=2 CANONICAL=O14908-1" }, "isoforms": [ { "isoform_ac": "K7EIT0-1", "url": "", "sequence": { "sequence": "MFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAF", "length": 121, "header": "tr|K7EIT0-1|GIPC1_HUMAN Computationally mapped isoform of PDZ domain-containing protein GIPC1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=1 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14480775, "end_pos": 14480306, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587969.1", "url": "https://www.ensembl.org/id/ENST00000587969.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464879.1", "url": "https://www.ensembl.org/id/ENSP00000464879.1" } ] } }, { "isoform_ac": "K7EJ33-1", "url": "", "sequence": { "sequence": "MFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKT", "length": 62, "header": "tr|K7EJ33-1|K7EJ33_HUMAN Computationally mapped isoform of GIPC PDZ domain containing family member 1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=1 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14480775, "end_pos": 14479522, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589497.5", "url": "https://www.ensembl.org/id/ENST00000589497.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465003.1", "url": "https://www.ensembl.org/id/ENSP00000465003.1" } ] } }, { "isoform_ac": "K7ELJ2-1", "url": "", "sequence": { "sequence": "MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGS", "length": 40, "header": "tr|K7ELJ2-1|GIPC1_HUMAN Computationally mapped isoform of PDZ domain-containing protein GIPC1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=1 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14482976, "end_pos": 14482857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587934.1", "url": "https://www.ensembl.org/id/ENST00000587934.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000466624.1", "url": "https://www.ensembl.org/id/ENSP00000466624.1" } ] } }, { "isoform_ac": "K7EM11-1", "url": "", "sequence": { "sequence": "KRRRTQAAGDSGWDMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDELAEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY", "length": 128, "header": "tr|K7EM11-1|K7EM11_HUMAN Computationally mapped isoform of GIPC PDZ domain containing family member 1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=1 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14479857, "end_pos": 14478419, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589631.5", "url": "https://www.ensembl.org/id/ENST00000589631.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466312.1", "url": "https://www.ensembl.org/id/ENSP00000466312.1" } ] } }, { "isoform_ac": "K7ESN1-1", "url": "", "sequence": { "sequence": "MFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDL", "length": 159, "header": "tr|K7ESN1-1|K7ESN1_HUMAN Computationally mapped isoform of GIPC PDZ domain containing family member 1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=1 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14480775, "end_pos": 14479412, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587210.1", "url": "https://www.ensembl.org/id/ENST00000587210.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468787.1", "url": "https://www.ensembl.org/id/ENSP00000468787.1" } ] } }, { "isoform_ac": "O14908-1", "url": "", "sequence": { "sequence": "MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQMGLPPPPPALRPRLVFHTQLAHGSPTGRIEGFTNVKELYGKIAEAFRLPTAEVMFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDELAEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY", "length": 333, "header": "sp|O14908-1|GIPC1_HUMAN Isoform 1 of PDZ domain-containing protein GIPC1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=2 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14482976, "end_pos": 14478419, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000345425.6", "url": "https://www.ensembl.org/id/ENST00000345425.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000340698.1", "url": "https://www.ensembl.org/id/ENSP00000340698.1" } ] } }, { "isoform_ac": "O14908-2", "url": "", "sequence": { "sequence": "MFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDELAEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY", "length": 236, "header": "sp|O14908-2|GIPC1_HUMAN Isoform 2 of PDZ domain-containing protein GIPC1 OS=Homo sapiens OX=9606 GN=GIPC1 PE=1 SV=2 CANONICAL=O14908-1" }, "locus": { "chromosome": "19", "start_pos": 14480775, "end_pos": 14478419, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591349.5", "url": "https://www.ensembl.org/id/ENST00000591349.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467077.1", "url": "https://www.ensembl.org/id/ENSP00000467077.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O14908", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14908" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 222, "end_pos": 222, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "site_lbl": "Ser222" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "site_lbl": "Ser225" }, { "start_pos": 232, "end_pos": 232, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "site_lbl": "Ser232" }, { "start_pos": 242, "end_pos": 242, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "site_lbl": "Thr242" }, { "start_pos": 247, "end_pos": 247, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "site_lbl": "Ser247" }, { "start_pos": 68, "end_pos": 68, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "site_lbl": "Ser68" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hart KC, Robertson SC, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "11294897", "url": "https://glygen.org/publication/PubMed/11294897" } ] }, { "title": "Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.", "journal": "Nature genetics", "date": "2003", "authors": "Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "12627230", "url": "https://glygen.org/publication/PubMed/12627230" } ] }, { "title": "Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis.", "journal": "Nature", "date": "1992", "authors": "Mohammadi M, Dionne CA, Li W, Li N, Spivak T, Honegger AM, Jaye M, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190370" } ], "reference": [ { "type": "PubMed", "id": "1379698", "url": "https://glygen.org/publication/PubMed/1379698" } ] }, { "title": "Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator.", "journal": "The Biochemical journal", "date": "2004", "authors": "Hu Y, Gonzalez-Martinez D, Kim SH, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "15324302", "url": "https://glygen.org/publication/PubMed/15324302" } ] }, { "title": "Structural basis for fibroblast growth factor receptor activation.", "journal": "Cytokine & growth factor reviews", "date": "2005", "authors": "Mohammadi M, Olsen SK, Ibrahimi OA", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "15863029", "url": "https://glygen.org/publication/PubMed/15863029" } ] }, { "title": "Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.", "journal": "Molecular cell", "date": "2006", "authors": "Furdui CM, Lew ED, Schlessinger J, Anderson KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-190370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190370" } ], "reference": [ { "type": "PubMed", "id": "16507368", "url": "https://glygen.org/publication/PubMed/16507368" } ] }, { "title": "A tyrosine-phosphorylated carboxy-terminal peptide of the fibroblast growth factor receptor (Flg) is a binding site for the SH2 domain of phospholipase C-gamma 1.", "journal": "Molecular and cellular biology", "date": "1991", "authors": "Mohammadi M, Honegger AM, Rotin D, Fischer R, Bellot F, Li W, Dionne CA, Jaye M, Rubinstein M, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190370" } ], "reference": [ { "type": "PubMed", "id": "1656221", "url": "https://glygen.org/publication/PubMed/1656221" } ] }, { "title": "Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Zhang X, Ibrahimi OA, Olsen SK, Umemori H, Mohammadi M, Ornitz DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-190370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190370" } ], "reference": [ { "type": "PubMed", "id": "16597617", "url": "https://glygen.org/publication/PubMed/16597617" } ] }, { "title": "Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.", "journal": "Molecular and cellular endocrinology", "date": "2006", "authors": "Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "16764984", "url": "https://glygen.org/publication/PubMed/16764984" } ] }, { "title": "Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Hu Y, Guimond SE, Travers P, Cadman S, Hohenester E, Turnbull JE, Kim SH, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "19696444", "url": "https://glygen.org/publication/PubMed/19696444" } ] }, { "title": "Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2010", "authors": "Hu Y, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "20117945", "url": "https://glygen.org/publication/PubMed/20117945" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "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": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "iPTMnet", "id": "O14908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14908" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.", "journal": "Am. J. Hum. Genet.", "date": "2020", "authors": "Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z", "evidence": [ { "database": "UniProtKB", "id": "O14908", "url": "https://www.uniprot.org/uniprot/O14908" }, { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" } ], "reference": [ { "type": "PubMed", "id": "32413282", "url": "https://glygen.org/publication/PubMed/32413282" } ] }, { "title": "GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a beta1-Integrin Pathway.", "journal": "Cellular and molecular gastroenterology and hepatology", "date": "2020", "authors": "Yaqoob U, Luo F, Greuter T, Jalan Sakrikar N, Sehrawat TS, Lu J, Hu X, Gao J, Kostallari E, Chen J, Arab JP, Martin-Mateos R, Cao S, Shah VH", "evidence": [ { "database": "RefSeq", "id": "NP_005707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005707" } ], "reference": [ { "type": "PubMed", "id": "32447051", "url": "https://glygen.org/publication/PubMed/32447051" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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