{ "uniprot_canonical_ac": "O75154-1", "uniprot_ac": "O75154", "uniprot_id": "RFIP3_HUMAN", "mass": { "chemical_mass": 82440.0, "monoisotopic_mass": 82440.0 }, "refseq": { "ac": "NP_001135744", "name": "rab11 family-interacting protein 3 isoform 2", "summary": "Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" }, "gene_names": [ { "name": "RAB11FIP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75154", "id": "O75154" }, { "name": "ARFO1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75154", "id": "O75154" }, { "name": "CART1; FIP3; FIP3-Rab11; Rab11-FIP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744", "id": "NP_001135744" }, { "name": "KIAA0665", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75154", "id": "O75154" }, { "name": "RAB11FIP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744", "id": "NP_001135744" } ], "protein_names": [ { "name": "Rab11 family-interacting protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75154" }, { "name": "Arfophilin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "EF hands-containing Rab-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "Eferin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "FIP3-Rab11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "FIP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "MU-MB-17.148", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "Rab11-FIP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75154" }, { "name": "eferin; RAB11 family interacting protein 3 (class II); rab11 family-interacting protein 3; arfophilin-1; EF hands-containing Rab-interacting protein; cytoplasmic adaptor for RAR and TR; MU-MB-17.148", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744", "id": "NP_001135744" }, { "name": "rab11 family-interacting protein 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744", "id": "NP_001135744" } ], "function": [ { "annotation": "Downstream effector molecule for Rab11 GTPase which acts as a regulator of endocytic trafficking and intracellular ciliogenesis by participating in membrane delivery (PubMed:16148947, PubMed:15601896, PubMed:17628206, PubMed:17394487, PubMed:18511905, PubMed:19327867, PubMed:20026645, PubMed:25673879, PubMed:26258637, PubMed:31204173). Recruited by Rab11 to endosomes where it links Rab11 to dynein motor complex (PubMed:20026645). The functional Rab11-RAB11FIP3-dynein complex then regulates the movement of peripheral sorting endosomes (SE) along microtubule tracks toward the microtubule organizing center/centrosome, generating the endocytic recycling compartment (ERC) during interphase of cell cycle (PubMed:17394487, PubMed:20026645). Facilitates the interaction between dynein and dynactin and activates dynein processivity (PubMed:25035494). Binding with ASAP1 is also needed to regulates the pericentrosomal localization of recycling endosomes (By similarity). The Rab11-RAB11FIP3 complex is also implicated in the transport and fusion of vesicles derived from recycling endosomes to the cleavage furrow during late cytokinesis and abscission (PubMed:16148947, PubMed:15601896). Also regulates cleavage furrow ingression and abscission together with RACGAP1 (PubMed:18511905). Required for ARF6 recruitment to the cleavage furrow during cytokinesis (PubMed:17628206). Involved in the Rab11-Rabin8-Rab8 ciliogenesis cascade by facilitating the orderly assembly of a ciliary targeting complex containing Rab11, ASAP1, Rabin8/RAB3IP, RAB11FIP3 and ARF4, which direct preciliary vesicle trafficking to mother centriole and ciliogenesis initiation (PubMed:26258637, PubMed:31204173). Also promotes the activity of Rab11 and ASAP1 in the ARF4-dependent Golgi-to-cilia transport of the sensory receptor rhodopsin (PubMed:25673879). Competes with WDR44 for binding to Rab11, which controls intracellular ciliogenesis pathway (PubMed:31204173). May play a role in breast cancer cell motility by regulating actin cytoskeleton (PubMed:19327867).", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154#function" }, { "database": "PubMed", "id": "16148947", "url": "https://glygen.org/publication/PubMed/16148947" }, { "database": "PubMed", "id": "19327867", "url": "https://glygen.org/publication/PubMed/19327867" }, { "database": "PubMed", "id": "25035494", "url": "https://glygen.org/publication/PubMed/25035494" }, { "database": "PubMed", "id": "17628206", "url": "https://glygen.org/publication/PubMed/17628206" }, { "database": "PubMed", "id": "18511905", "url": "https://glygen.org/publication/PubMed/18511905" }, { "database": "PubMed", "id": "17394487", "url": "https://glygen.org/publication/PubMed/17394487" }, { "database": "PubMed", "id": "15601896", "url": "https://glygen.org/publication/PubMed/15601896" }, { "database": "PubMed", "id": "20026645", "url": "https://glygen.org/publication/PubMed/20026645" }, { "database": "PubMed", "id": "25673879", "url": "https://glygen.org/publication/PubMed/25673879" }, { "database": "PubMed", "id": "26258637", "url": "https://glygen.org/publication/PubMed/26258637" }, { "database": "PubMed", "id": "31204173", "url": "https://glygen.org/publication/PubMed/31204173" }, { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprot/Q8CHD8#function" } ] }, { "annotation": "Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" } ] }, { "annotation": "RAB11FIP3 combines with Eps15 homology domain 1 to promote the endocytosis recycling of phosphorylation of epithelial growth factor receptor.", "evidence": [ { "database": "RefSeq", "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" }, { "database": "PubMed", "id": "28215104", "url": "https://glygen.org/publication/PubMed/28215104" } ] }, { "annotation": "Rab11-FIP3 coordinates the interactions of ASAP1 and Rab11a with Rabin8.", "evidence": [ { "database": "RefSeq", "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" }, { "database": "PubMed", "id": "25673879", "url": "https://glygen.org/publication/PubMed/25673879" } ] }, { "annotation": "Rac1-Rab11-FIP3 regulatory hub coordinates vesicle traffic with actin remodeling and T-cell activation", "evidence": [ { "database": "RefSeq", "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" }, { "database": "PubMed", "id": "27154205", "url": "https://glygen.org/publication/PubMed/27154205" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 737, "end_pos": 737, "sequence_org": "Y", "sequence_mut": "S", "comment": "Abolishes Rab11-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "17030804", "url": "https://glygen.org/publication/PubMed/17030804" } ] }, { "start_pos": 738, "end_pos": 738, "sequence_org": "I", "sequence_mut": "E", "comment": "Abolishes Rab11-binding. Capable of binding to DYNC1LI1. Impaired trafficking towards the pericentrosomal endosomal recycling compartment (ERC).", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "16148947", "url": "https://glygen.org/publication/PubMed/16148947" }, { "database": "PubMed", "id": "15601896", "url": "https://glygen.org/publication/PubMed/15601896" }, { "database": "PubMed", "id": "20026645", "url": "https://glygen.org/publication/PubMed/20026645" } ] }, { "start_pos": 739, "end_pos": 739, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes Rab11-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "17030804", "url": "https://glygen.org/publication/PubMed/17030804" } ] }, { "start_pos": 746, "end_pos": 746, "sequence_org": "M", "sequence_mut": "S", "comment": "Abolishes Rab11-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "17030804", "url": "https://glygen.org/publication/PubMed/17030804" } ] }, { "start_pos": 747, "end_pos": 747, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes Rab11-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "17030804", "url": "https://glygen.org/publication/PubMed/17030804" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "75.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "69.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090565" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "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 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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "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": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75154" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"GeneID", "categories": [ "Genome Annotation" ] }, { "id": "17224", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17224", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75154", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75154*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011992", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019018", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019018", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037245", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037245", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9727", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9727", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608738", "url": "http://www.omim.org/entry/608738", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75154", "url": "https://www.nextprot.org/entry/NX_O75154", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75154", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75154", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "XVTDSAY", "url": "https://omabrowser.org/oma/group/XVTDSAY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5312348at2759", "url": "http://www.orthodb.org/?query=5312348at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15726", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15726", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15726:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15726:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2D7C", "url": "https://www.rcsb.org/structure/2D7C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HV8", "url": "https://www.rcsb.org/structure/2HV8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4D0M", "url": "https://www.rcsb.org/structure/4D0M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4UJ3", "url": "https://www.rcsb.org/structure/4UJ3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4UJ4", "url": "https://www.rcsb.org/structure/4UJ4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF09457", "url": "http://pfam.xfam.org/family/PF09457", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13499", "url": "http://pfam.xfam.org/family/PF13499", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75154", "url": "https://pharos.nih.gov/targets/O75154", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75154", "url": "http://purl.obolibrary.org/obo/PR_O75154", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0A0MSV1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSV1-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWM0", "url": "https://www.uniprot.org/uniprot/A0A0J9YWM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWM0-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YWM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWV4", "url": "https://www.uniprot.org/uniprot/A0A0J9YWV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWV4-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YWV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXZ3", "url": "https://www.uniprot.org/uniprot/A0A0J9YXZ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXZ3-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXZ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YY48", "url": "https://www.uniprot.org/uniprot/A0A0J9YY48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YY48-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YY48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6X994", "url": "https://www.uniprot.org/uniprot/F6X994", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6X994-1", "url": "https://www.uniprot.org/uniprot/F6X994-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y7F9", "url": "https://www.uniprot.org/uniprot/H0Y7F9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y7F9-1", "url": "https://www.uniprot.org/uniprot/H0Y7F9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75154-1", "url": "https://www.uniprot.org/uniprot/O75154-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75154-2", "url": "https://www.uniprot.org/uniprot/O75154-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75154-3", "url": "https://www.uniprot.org/uniprot/O75154-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RFI8", "url": "https://www.uniprot.org/uniprot/X6RFI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RFI8-1", "url": "https://www.uniprot.org/uniprot/X6RFI8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASAPPASPPGSEPPGPDPEPGGPDGPGAAQLAPGPAELRLGAPVGGPDPQSPGLDEPAPGAAADGGARWSAGPAPGLEGGPRDPGPSAPPPRSGPRGQLASPDAPGPGPRSEAPLPELDPLFSWTEEPEECGPASCPESAPFRLQGSSSSHRARGEVDVFSPFPAPTAGELALEQGPGSPPQPSDLSQTHPLPSEPVGSQEDGPRLRAVFDALDGDGDGFVRIEDFIQFATVYGAEQVKDLTKYLDPSGLGVISFEDFYQGITAIRNGDPDGQCYGGVASAQDEEPLACPDEFDDFVTYEANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQENLQLVHRANALEEQLKEQELRACEMVLEETRRQKELLCKMEREKSIEIENLQTRLQQLDEENSELRSCTPCLKANIERLEEEKQKLLDEIESLTLRLSEEQENKRRMGDRLSHERHQFQRDKEATQELIEDLRKQLEHLQLLKLEAEQRRGRSSSMGLQEYHSRARESELEQEVRRLKQDNRNLKEQNEELNGQIITLSIQGAKSLFSTAFSESLAAEISSVSRDELMEAIQKQEEINFRLQDYIDRIIVAIMETNPSILEVK", "length": 756, "header": "sp|O75154-1|RFIP3_HUMAN Isoform 1 of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSV1-1", "url": "", "sequence": { "sequence": "MGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPE", "length": 143, "header": "tr|A0A0A0MSV1-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=7 CANONICAL=O75154-1" }, "locus": { "chromosome": "16", "start_pos": 503061, "end_pos": 482552, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449879.6", "url": "https://www.ensembl.org/id/ENST00000449879.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000404331.2", "url": "https://www.ensembl.org/id/ENSP00000404331.2" } ] } }, { "isoform_ac": "A0A0J9YWM0-1", "url": "", "sequence": { "sequence": "MPFLKANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPE", "length": 157, "header": "tr|A0A0J9YWM0-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=3 CANONICAL=O75154-1" }, "locus": { "chromosome": "HSCHR16_CTG2", "start_pos": 105948, "end_pos": 75337, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632539.1", "url": "https://www.ensembl.org/id/ENST00000632539.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488023.1", "url": "https://www.ensembl.org/id/ENSP00000488023.1" } ] } }, { "isoform_ac": "A0A0J9YWV4-1", "url": "", "sequence": { "sequence": "WTEEPEECGPASCPESAPFRLQGSSSSHRARGEVDVFSPFPAPTAGELALEQGPGSPPQPSDLSQTHPLPSEPVGSQEDGPRLRAVFDALDGDGDGFVRIEDFIQFATVYGAEQVKDLTKYLDPSGLGVISFEDFYQGITAIRNGDPDGQCYGGVASAQDEEPLACPDEFDDFVTYEANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSTDPLAAKLHSILTDEAFEFYCSQCHKQINRLEDLSARLSDLEMNSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQENLQLVHRANALEEQLKEQELRACEMVLEETRRQKELLCKMEREKSIEIENLQTRLQQLDEENSELRSCTPCLKANIERLEEEKQKLLDEIESLTLRLSEEQENKRRMGDRLSHERHQFQRDKEATQELIEDLRKQLEHLQLLKLEAEQRRGRSSSMGLQEYHSRARESELEQEVRRLKQDNRNLKEQNEELNGQIITLSIQGAKSLFSTAFSESLAAEISSVSRDELMEAIQKQEEINFRLQDYIDRIIVAIMETNPSILEVK", "length": 677, "header": "tr|A0A0J9YWV4-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "HSCHR16_CTG2", "start_pos": 123504, "end_pos": 25525, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633920.1", "url": "https://www.ensembl.org/id/ENST00000633920.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488133.1", "url": "https://www.ensembl.org/id/ENSP00000488133.1" } ] } }, { "isoform_ac": "A0A0J9YXZ3-1", "url": "", "sequence": { "sequence": "GGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSTDPLAAKLHSILTDEAFEFYCSQCHKQINRLEDLSARLSDLEMNSPTKRLSSKKVASFV", "length": 136, "header": "tr|A0A0J9YXZ3-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "HSCHR16_CTG2", "start_pos": 100169, "end_pos": 82962, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633334.1", "url": "https://www.ensembl.org/id/ENST00000633334.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488615.1", "url": "https://www.ensembl.org/id/ENSP00000488615.1" } ] } }, { "isoform_ac": "A0A0J9YY48-1", "url": "", "sequence": { "sequence": "MGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQ", "length": 182, "header": "tr|A0A0J9YY48-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "HSCHR16_CTG2", "start_pos": 108296, "end_pos": 82857, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000631977.1", "url": "https://www.ensembl.org/id/ENST00000631977.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488688.1", "url": "https://www.ensembl.org/id/ENSP00000488688.1" } ] } }, { "isoform_ac": "F6X994-1", "url": "", "sequence": { "sequence": "MGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQ", "length": 182, "header": "tr|F6X994-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "16", "start_pos": 505604, "end_pos": 482552, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452814.5", "url": "https://www.ensembl.org/id/ENST00000452814.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399614.1", "url": "https://www.ensembl.org/id/ENSP00000399614.1" } ] } }, { "isoform_ac": "H0Y7F9-1", "url": "", "sequence": { "sequence": "GGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSTDPLAAKLHSILTDEAFEFYCSQCHKQINRLEDLSARLSDLEMNSPTKRLSSKKVASFV", "length": 136, "header": "tr|H0Y7F9-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "16", "start_pos": 497298, "end_pos": 482657, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412256.1", "url": "https://www.ensembl.org/id/ENST00000412256.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000412502.1", "url": "https://www.ensembl.org/id/ENSP00000412502.1" } ] } }, { "isoform_ac": "O75154-1", "url": "", "sequence": { "sequence": "MASAPPASPPGSEPPGPDPEPGGPDGPGAAQLAPGPAELRLGAPVGGPDPQSPGLDEPAPGAAADGGARWSAGPAPGLEGGPRDPGPSAPPPRSGPRGQLASPDAPGPGPRSEAPLPELDPLFSWTEEPEECGPASCPESAPFRLQGSSSSHRARGEVDVFSPFPAPTAGELALEQGPGSPPQPSDLSQTHPLPSEPVGSQEDGPRLRAVFDALDGDGDGFVRIEDFIQFATVYGAEQVKDLTKYLDPSGLGVISFEDFYQGITAIRNGDPDGQCYGGVASAQDEEPLACPDEFDDFVTYEANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQENLQLVHRANALEEQLKEQELRACEMVLEETRRQKELLCKMEREKSIEIENLQTRLQQLDEENSELRSCTPCLKANIERLEEEKQKLLDEIESLTLRLSEEQENKRRMGDRLSHERHQFQRDKEATQELIEDLRKQLEHLQLLKLEAEQRRGRSSSMGLQEYHSRARESELEQEVRRLKQDNRNLKEQNEELNGQIITLSIQGAKSLFSTAFSESLAAEISSVSRDELMEAIQKQEEINFRLQDYIDRIIVAIMETNPSILEVK", "length": 756, "header": "sp|O75154-1|RFIP3_HUMAN Isoform 1 of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "16", "start_pos": 520836, "end_pos": 426007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262305.9", "url": "https://www.ensembl.org/id/ENST00000262305.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262305.4", "url": "https://www.ensembl.org/id/ENSP00000262305.4" } ] } }, { "isoform_ac": "O75154-2", "url": "", "sequence": { "sequence": "MPFLKANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQENLQLVHRANALEEQLKEQELRACEMVLEETRRQKELLCKMEREKSIEIENLQTRLQQLDEENSELRSCTPCLKANIERLEEEKQKLLDEIESLTLRLSEEQENKRRMGDRLSHERHQFQRDKEATQELIEDLRKQLEHLQLLKLEAEQRRGRSSSMGLQEYHSRARESELEQEVRRLKQDNRNLKEQNEELNGQIITLSIQGAKSLFSTAFSESLAAEISSVSRDELMEAIQKQEEINFRLQDYIDRIIVAIMETNPSILEVK", "length": 460, "header": "sp|O75154-2|RFIP3_HUMAN Isoform 2 of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "16", "start_pos": 520836, "end_pos": 475031, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450428.5", "url": "https://www.ensembl.org/id/ENST00000450428.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415919.1", "url": "https://www.ensembl.org/id/ENSP00000415919.1" } ] } }, { "isoform_ac": "O75154-3", "url": "", "sequence": { "sequence": "MASAPPASPPGSEPPGPDPEPGGPDGPGAAQLAPGPAELRLGAPVGGPDPQSPGLDEPAPGAAADGGARWSAGPAPGLEGGPRDPGPSAPPPRSGPRGQLASPDAPGPGPRSEAPLPELDPLFSWTEEPEECGPASCPESAPFRLQGSSSSHRARGEVDVFSPFPAPTAGELALEQGPGSPPQPSDLSQTHPLPSEPVGSQEDGPRLRAVFDALDGDGDGFVRIEDFIQFATVYGAEQVKDLTKYLDPSGLGVISFEDFYQGITAIRNGDPDGQCYGGVASAQDEEPLACPDEFDDFVTYEANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSTDPLAAKLHSILTDEAFEFYCSQCHKQINRLEDLSARLSDLEMNSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQENLQLVHRANALEEQLKEQELRACEMVLEETRRQKELLCKMEREKSIEIENLQTRLQQLDEENSELRSCTPCLKANIERLEEEKQKLLDEIESLTLRLSEEQENKRRMGDRLSHERHQFQRDKEATQELIEDLRKQLEHLQLLKLEAEQRRGRSSSMGLQEYHSRARESELEQEVRRLKQDNRNLKEQNEELNGQIITLSIQGAKSLFSTAFSESLAAEISSVSRDELMEAIQKQEEINFRLQDYIDRIIVAIMETNPSILEVK", "length": 801, "header": "sp|O75154-3|RFIP3_HUMAN Isoform 3 of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": { "chromosome": "16", "start_pos": 520836, "end_pos": 426007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434585.6", "url": "https://www.ensembl.org/id/ENST00000434585.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399644.2", "url": "https://www.ensembl.org/id/ENSP00000399644.2" } ] } }, { "isoform_ac": "X6RFI8-1", "url": "", "sequence": { "sequence": "WTEEPEECGPASCPESAPFRLQGSSSSHRARGEVDVFSPFPAPTAGELALEQGPGSPPQPSDLSQTHPLPSEPVGSQEDGPRLRAVFDALDGDGDGFVRIEDFIQFATVYGAEQVKDLTKYLDPSGLGVISFEDFYQGITAIRNGDPDGQCYGGVASAQDEEPLACPDEFDDFVTYEANEVTDSAYMGSESTYSECETFTDEDTSTLVHPELQPEGDADSAGGSAVPSECLDAMEEPDHGALLLLPGRPHPHGQSVITVIGGEEHFEDYGEGSEAELSPETLCNGQLGCSDPAFLTPSTDPLAAKLHSILTDEAFEFYCSQCHKQINRLEDLSARLSDLEMNSPTKRLSSKKVARYLHQSGALTMEALEDPSPELMEGPEEDIADKVVFLERRVLELEKDTAATGEQHSRLRQENLQLVHRANALEEQLKEQELRACEMVLEETRRQKELLCKMEREKSIEIENLQTRLQQLDEENSELRSCTPCLKANIERLEEEKQKLLDEIESLTLRLSEEQENKRRMGDRLSHERHQFQRDKEATQELIEDLRKQLEHLQLLKLEAEQRRGRSSSMGLQEYHSRARESELEQEVRRLKQDNRNLKEQNEELNGQIITLSIQGAKSLFSTAFSESLAAEISSVSRDELMEAIQKQEEINFRLQDYIDRIIVAIMETNPSILEVK", "length": 677, "header": "tr|X6RFI8-1|RFIP3_HUMAN Computationally mapped isoform of Rab11 family-interacting protein 3 OS=Homo sapiens OX=9606 GN=RAB11FIP3 PE=1 SV=1 CANONICAL=O75154-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75154", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75154" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" } ], "site_lbl": "Ser102" }, { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser102" }, { "start_pos": 281, "end_pos": 281, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser281" }, { "start_pos": 348, "end_pos": 348, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser348" }, { "start_pos": 488, "end_pos": 488, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser488" }, { "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser52" }, { "start_pos": 538, "end_pos": 538, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser538" }, { "start_pos": 647, "end_pos": 647, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser647" }, { "start_pos": 648, "end_pos": 648, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "PubMed", "id": "22401586", "url": "https://glygen.org/publication/PubMed/22401586" }, { "database": "iPTMnet", "id": "O75154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75154" } ], "site_lbl": "Ser648" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a novel Rab11/25 binding domain present in eferin and rip proteins.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Prekeris R, Davies JM, Scheller RH", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "11481332", "url": "https://glygen.org/publication/PubMed/11481332" } ] }, { "title": "Identification and characterization of a family of Rab11-interacting proteins.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Hales C M, Griner R, Hobdy-Henderson K C, Dorn M C, Hardy D, Kumar R, Navarre J, Chan E K, Lapierre L A, Goldenring J R", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "11495908", "url": "https://glygen.org/publication/PubMed/11495908" } ] }, { "title": "A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Hattula K, Furuhjelm J, Arffman A, Peranen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "12221131", "url": "https://glygen.org/publication/PubMed/12221131" } ] }, { "title": "Rab11-FIP4 interacts with Rab11 in a GTP-dependent manner and its overexpression condenses the Rab11 positive compartment in HeLa cells.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "Wallace DM, Lindsay AJ, Hendrick AG, McCaffrey MW", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "12470645", "url": "https://glygen.org/publication/PubMed/12470645" } ] }, { "title": "Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries.", "journal": "Int. J. Cancer", "date": "2003", "authors": "Behrends U, Schneider I, Rossler S, Frauenknecht H, Golbeck A, Lechner B, Eigenstetter G, Zobywalski C, Muller-Weihrich S, Graubner U, Schmid I, Sackerer D, Spath M, Goetz C, Prantl F, Asmuss HP, Bise K, Mautner J", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "12800201", "url": "https://glygen.org/publication/PubMed/12800201" } ] }, { "title": "Rab11-FIP3 localises to a Rab11-positive pericentrosomal compartment during interphase and to the cleavage furrow during cytokinesis.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2004", "authors": "Horgan Conor P, Walsh Melanie, Zurawski Tomas H, McCaffrey Mary W", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "15158446", "url": "https://glygen.org/publication/PubMed/15158446" } ] }, { "title": "The exocyst localizes to the primary cilium in MDCK cells.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Rogers KK, Wilson PD, Snyder RW, Zhang X, Guo W, Burrow CR, Lipschutz JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "15158452", "url": "https://glygen.org/publication/PubMed/15158452" } ] }, { "title": "The FIP3-Rab11 protein complex regulates recycling endosome targeting to the cleavage furrow during late cytokinesis.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Wilson GM, Fielding AB, Simon GC, Yu X, Andrews PD, Hames RS, Frey AM, Peden AA, Gould GW, Prekeris R", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "15601896", "url": "https://glygen.org/publication/PubMed/15601896" } ] }, { "title": "Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Deretic D, Williams AH, Ransom N, Morel V, Hargrave PA, Arendt A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "15728366", "url": "https://glygen.org/publication/PubMed/15728366" } ] }, { "title": "Regulation of ASAP1 by phospholipids is dependent on the interface between the PH and Arf GAP domains.", "journal": "Cellular signalling", "date": "2005", "authors": "Che MM, Boja ES, Yoon HY, Gruschus J, Jaffe H, Stauffer S, Schuck P, Fales HM, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16038802", "url": "https://glygen.org/publication/PubMed/16038802" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "Rab11-FIP3 and FIP4 interact with Arf6 and the exocyst to control membrane traffic in cytokinesis.", "journal": "The EMBO journal", "date": "2005", "authors": "Fielding AB, Schonteich E, Matheson J, Wilson G, Yu X, Hickson GR, Srivastava S, Baldwin SA, Prekeris R, Gould GW", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "16148947", "url": "https://glygen.org/publication/PubMed/16148947" } ] }, { "title": "Sec15 interacts with Rab11 via a novel domain and affects Rab11 localization in vivo.", "journal": "Nature structural & molecular biology", "date": "2005", "authors": "Wu S, Mehta SQ, Pichaud F, Bellen HJ, Quiocho FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16155582", "url": "https://glygen.org/publication/PubMed/16155582" } ] }, { "title": "A BAR domain in the N terminus of the Arf GAP ASAP1 affects membrane structure and trafficking of epidermal growth factor receptor.", "journal": "Current biology : CB", "date": "2006", "authors": "Nie Z, Hirsch DS, Luo R, Jian X, Stauffer S, Cremesti A, Andrade J, Lebowitz J, Marino M, Ahvazi B, Hinshaw JE, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16431365", "url": "https://glygen.org/publication/PubMed/16431365" } ] }, { "title": "Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.", "journal": "Journal of cell science", "date": "2006", "authors": "Geng L, Okuhara D, Yu Z, Tian X, Cai Y, Shibazaki S, Somlo S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16537653", "url": "https://glygen.org/publication/PubMed/16537653" } ] }, { "title": "Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17.", "journal": "Current biology : CB", "date": "2006", "authors": "Jenkins PM, Hurd TW, Zhang L, McEwen DP, Brown RL, Margolis B, Verhey KJ, Martens JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16782012", "url": "https://glygen.org/publication/PubMed/16782012" } ] }, { "title": "Structural basis for Rab11-mediated recruitment of FIP3 to recycling endosomes.", "journal": "J. Mol. Biol.", "date": "2006", "authors": "Eathiraj S, Mishra A, Prekeris R, Lambright DG", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17007872", "url": "https://glygen.org/publication/PubMed/17007872" } ] }, { "title": "Structural basis for Rab11-dependent membrane recruitment of a family of Rab11-interacting protein 3 (FIP3)/Arfophilin-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Shiba T, Koga H, Shin HW, Kawasaki M, Kato R, Nakayama K, Wakatsuki S", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17030804", "url": "https://glygen.org/publication/PubMed/17030804" } ] }, { "title": "Identification of Rab11 as a small GTPase binding protein for the Evi5 oncogene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Westlake Christopher J, Junutula Jagath R, Simon Glenn C, Pilli Manohar, Prekeris Rytis, Scheller Richard H, Jackson Peter K, Eldridge Adam G", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "17229837", "url": "https://glygen.org/publication/PubMed/17229837" } ] }, { "title": "Rab11-FIP3 is critical for the structural integrity of the endosomal recycling compartment.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007-04", "authors": "Horgan Conor P, Oleksy Arkadiusz, Zhdanov Alexander V, Lall Patrick Y, White Ian J, Khan Amir R, Futter Clare E, McCaffrey John G, McCaffrey Mary W", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "17394487", "url": "https://glygen.org/publication/PubMed/17394487" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Molecular characterization of Rab11-FIP3 binding to ARF GTPases.", "journal": "European journal of cell biology", "date": "2007", "authors": "Schonteich E, Pilli M, Simon GC, Matern HT, Junutula JR, Sentz D, Holmes RK, Prekeris R", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" }, { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17628206", "url": "https://glygen.org/publication/PubMed/17628206" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Dissecting the role of the ARF guanine nucleotide exchange factor GBF1 in Golgi biogenesis and protein trafficking.", "journal": "Journal of cell science", "date": "2007", "authors": "Szul T, Grabski R, Lyons S, Morohashi Y, Shestopal S, Lowe M, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17956946", "url": "https://glygen.org/publication/PubMed/17956946" } ] }, { "title": "Sequential Cyk-4 binding to ECT2 and FIP3 regulates cleavage furrow ingression and abscission during cytokinesis.", "journal": "The EMBO journal", "date": "2008-07-09", "authors": "Simon Glenn C, Schonteich Eric, Wu Christine C, Piekny Alisa, Ekiert Damian, Yu Xinzi, Gould Gwyn W, Glotzer Michael, Prekeris Rytis", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "18511905", "url": "https://glygen.org/publication/PubMed/18511905" } ] }, { "title": "Arf GTPase-activating protein ASAP1 interacts with Rab11 effector FIP3 and regulates pericentrosomal localization of transferrin receptor-positive recycling endosome.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Inoue H, Ha VL, Prekeris R, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "18685082", "url": "https://glygen.org/publication/PubMed/18685082" } ] }, { "title": "Autoinhibition of Arf GTPase-activating protein activity by the BAR domain in ASAP1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Jian X, Brown P, Schuck P, Gruschus JM, Balbo A, Hinshaw JE, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19017632", "url": "https://glygen.org/publication/PubMed/19017632" } ] }, { "title": "Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4.", "journal": "The EMBO journal", "date": "2009", "authors": "Mazelova J, Astuto-Gribble L, Inoue H, Tam BM, Schonteich E, Prekeris R, Moritz OL, Randazzo PA, Deretic D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19153612", "url": "https://glygen.org/publication/PubMed/19153612" } ] }, { "title": "The exocyst protein Sec10 is necessary for primary ciliogenesis and cystogenesis in vitro.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Zuo X, Guo W, Lipschutz JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19297529", "url": "https://glygen.org/publication/PubMed/19297529" } ] }, { "title": "Rab11-FIP3 is a Rab11-binding protein that regulates breast cancer cell motility by modulating the actin cytoskeleton.", "journal": "European journal of cell biology", "date": "2009-06", "authors": "Jing Jian, Tarbutton Elizabeth, Wilson Gayle, Prekeris Rytis", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "19327867", "url": "https://glygen.org/publication/PubMed/19327867" } ] }, { "title": "Syntaxin 3 and SNAP-25 pairing, regulated by omega-3 docosahexaenoic acid, controls the delivery of rhodopsin for the biogenesis of cilia-derived sensory organelles, the rod outer segments.", "journal": "Journal of cell science", "date": "2009", "authors": "Mazelova J, Ransom N, Astuto-Gribble L, Wilson MC, Deretic D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19454479", "url": "https://glygen.org/publication/PubMed/19454479" } ] }, { "title": "Rab11-FIP3 links the Rab11 GTPase and cytoplasmic dynein to mediate transport to the endosomal-recycling compartment.", "journal": "Journal of cell science", "date": "2010-01-15", "authors": "Horgan Conor P, Hanscom Sara R, Jolly Rushee S, Futter Clare E, McCaffrey Mary W", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "20026645", "url": "https://glygen.org/publication/PubMed/20026645" } ] }, { "title": "Structural characteristics of BAR domain superfamily to sculpt the membrane.", "journal": "Seminars in cell & developmental biology", "date": "2010", "authors": "Masuda M, Mochizuki N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "20083215", "url": "https://glygen.org/publication/PubMed/20083215" } ] }, { "title": "Coordination of Rab8 and Rab11 in primary ciliogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Knodler A, Feng S, Zhang J, Zhang X, Das A, Peranen J, Guo W", "evidence": [ { "database": 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"journal": "Trends in cell biology", "date": "2011", "authors": "Das A, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "21550243", "url": "https://glygen.org/publication/PubMed/21550243" } ] }, { "title": "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.", "journal": "Cell", "date": "2011", "authors": "Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", 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Aguera-Gonzalez S, Cuche C, Danckaert A, McCaffrey MW, Di Bartolo V, Alcover A", "evidence": [ { "database": "RefSeq", "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" } ], "reference": [ { "type": "PubMed", "id": "27154205", "url": "https://glygen.org/publication/PubMed/27154205" } ] }, { "title": "Increased Eps15 homology domain 1 and RAB11FIP3 expression regulate breast cancer progression via promoting epithelial growth factor receptor recycling.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2017", "authors": "Tong D, Liang YN, Stepanova AA, Liu Y, Li X, Wang L, Zhang F, Vasilyeva NV", "evidence": [ { "database": "RefSeq", "id": "NP_001135744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135744" } ], "reference": [ { "type": "PubMed", "id": "28215104", "url": "https://glygen.org/publication/PubMed/28215104" } ] }, { "title": "Akt Regulates a Rab11-Effector Switch Required for Ciliogenesis.", "journal": "Developmental cell", "date": "2019", "authors": "Walia V, Cuenca A, Vetter M, Insinna C, Perera S, Lu Q, Ritt DA, Semler E, Specht S, Stauffer J, Morrison DK, Lorentzen E, Westlake CJ", "evidence": [ { "database": "UniProtKB", "id": "O75154", "url": "https://www.uniprot.org/uniprot/O75154" } ], "reference": [ { "type": "PubMed", "id": "31204173", "url": "https://glygen.org/publication/PubMed/31204173" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75154", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75154" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": 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