{ "uniprot_canonical_ac": "Q9UG01-1", "uniprot_ac": "Q9UG01", "uniprot_id": "IF172_HUMAN", "mass": { "chemical_mass": 197576.0, "monoisotopic_mass": 197576.0 }, "refseq": { "ac": "NP_056477", "name": "intraflagellar transport protein 172 homolog isoform 1", "summary": "This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" }, "gene_names": [ { "name": "IFT172", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UG01", "id": "Q9UG01" }, { "name": "BBS20; NPHP17; osm-1; RP71; SLB; SRTD10; wim", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477", "id": "NP_056477" }, { "name": "IFT172", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477", "id": "NP_056477" }, { "name": "KIAA1179", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UG01", "id": "Q9UG01" } ], "protein_names": [ { "name": "Intraflagellar transport protein 172 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UG01" }, { "name": "intraflagellar transport protein 172 homolog isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477", "id": "NP_056477" }, { "name": "wimple homolog; selective LIM binding factor homolog; intraflagellar transport protein 172 homolog; intraflagellar transport 172 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477", "id": "NP_056477" } ], "function": [ { "annotation": "Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" }, { "database": "PubMed", "id": "37471416", "url": "https://glygen.org/publication/PubMed/37471416" } ] }, { "annotation": "Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" }, { "database": "PubMed", "id": "33393400", "url": "https://glygen.org/publication/PubMed/33393400" } ] }, { "annotation": "Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" }, { "database": "PubMed", "id": "34674729", "url": "https://glygen.org/publication/PubMed/34674729" } ] }, { "annotation": "Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9UG01", "url": "https://www.uniprot.org/uniprot/Q9UG01#function" } ] }, { "annotation": "This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" } ] } ], "disease": [ { "disease_id": "DOID:0081009", "recommended_name": { "id": "DOID:0081009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081009", "name": "Bardet-Biedl syndrome 20", "description": "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23." }, "synonyms": [ { "id": "MONDO:0023670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023670", "name": "Bardet-Biedl syndrome 20", "description": "" }, { "id": "MONDO:0023670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023670", "name": "BBS20", "description": "" }, { "id": "MIM:619471", "resource": "MIM", "url": "https://www.omim.org/entry/619471", "name": "Bardet-Biedl syndrome 20", "description": "Bardet-Biedl syndrome 20" } ], "evidence": [ { "id": "619471", "database": "MIM", "url": "https://www.omim.org/entry/619471" } ] }, { "disease_id": "DOID:0110091", "recommended_name": { "id": "DOID:0110091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110091", "name": "short-rib thoracic dysplasia 10 with or without polydactyly", "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." }, "synonyms": [ { "id": "DOID:0110091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110091", "name": "SRTD10", "description": "" }, { "id": "MONDO:0014284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014284", "name": "short-rib thoracic dysplasia 10 with or without polydactyly", "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." }, { "id": "MONDO:0014284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014284", "name": "SRTD10", "description": "" }, { "id": "MONDO:0014284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014284", "name": "short-rib thoracic dysplasia 10 with or without polydactyly", "description": "" }, { "id": "MIM:615630", "resource": "MIM", "url": "https://www.omim.org/entry/615630", "name": "Short-rib thoracic dysplasia 10 with or without polydactyly", "description": "Short-rib thoracic dysplasia 10 with or without polydactyly" } ], "evidence": [ { "id": "615630", "database": "MIM", "url": "https://www.omim.org/entry/615630" } ] }, { "disease_id": "DOID:0110363", "recommended_name": { "id": "DOID:0110363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110363", "name": "retinitis pigmentosa 71", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23." }, "synonyms": [ { "id": "DOID:0110363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110363", "name": "RP71", "description": "" }, { "id": "MONDO:0014618", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014618", "name": "retinitis pigmentosa 71", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." }, { "id": "MONDO:0014618", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014618", "name": "IFT172 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0014618", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014618", "name": "RP71", "description": "" }, { "id": "MONDO:0014618", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014618", "name": "retinitis pigmentosa 71", "description": "" }, { "id": "MONDO:0014618", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014618", "name": "retinitis pigmentosa caused by mutation in IFT172", "description": "" }, { "id": "MONDO:0014618", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014618", "name": "retinitis pigmentosa type 71", "description": "" }, { "id": "MIM:616394", "resource": "MIM", "url": "https://www.omim.org/entry/616394", "name": "Retinitis pigmentosa 71", "description": "Retinitis pigmentosa 71" } ], "evidence": [ { "id": "616394", "database": "MIM", "url": "https://www.omim.org/entry/616394" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UG01", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UG01" } ], "glycoeffect": [], "start_pos": 789, "end_pos": 789, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "27461345", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R789", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9UG01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UG01" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UG01" } ], "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": "Q9UG01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UG01" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"url": "https://www.uniprot.org/uniprot/Q9UG01-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTGVRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGGLPSTSFSFQ", "length": 1749, "header": "sp|Q9UG01-1|IF172_HUMAN Isoform 1 of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=2 CANONICAL=Q9UG01-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PFB6-1", "url": "", "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQP", "length": 191, "header": "tr|A0A6Q8PFB6-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27489653, "end_pos": 27481124, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676119.1", "url": "https://www.ensembl.org/id/ENST00000676119.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501701.1", "url": "https://www.ensembl.org/id/ENSP00000501701.1" } ] } }, { "isoform_ac": "A0A6Q8PFK2-1", "url": "", "sequence": { "sequence": "MAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRVLFCFGPSSKSSIPA", "length": 536, "header": "tr|A0A6Q8PFK2-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27485479, "end_pos": 27463137, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674824.1", "url": "https://www.ensembl.org/id/ENST00000674824.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501824.1", "url": "https://www.ensembl.org/id/ENSP00000501824.1" } ] } }, { "isoform_ac": "A0A6Q8PFU9-1", "url": "", "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGED", "length": 98, "header": "tr|A0A6Q8PFU9-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27489653, "end_pos": 27485018, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674932.1", "url": "https://www.ensembl.org/id/ENST00000674932.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501967.1", "url": "https://www.ensembl.org/id/ENSP00000501967.1" } ] } }, { "isoform_ac": "A0A6Q8PG03-1", "url": "", "sequence": { "sequence": "MLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNTASKYYPLVAQHYASLQEYEVRKSPFPQHEAMQ", "length": 715, "header": "tr|A0A6Q8PG03-1|A0A6Q8PG03_HUMAN Computationally mapped isoform of Intraflagellar transport 172 OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27481149, "end_pos": 27459339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675410.1", "url": "https://www.ensembl.org/id/ENST00000675410.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502030.1", "url": "https://www.ensembl.org/id/ENSP00000502030.1" } ] } }, { "isoform_ac": "A0A6Q8PGJ2-1", "url": "", "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTGVRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGGLPSTSFSFQ", "length": 1727, "header": "tr|A0A6Q8PGJ2-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27489653, "end_pos": 27444435, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675690.1", "url": "https://www.ensembl.org/id/ENST00000675690.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502283.1", "url": "https://www.ensembl.org/id/ENSP00000502283.1" } ] } }, { "isoform_ac": "A0A6Q8PGK4-1", "url": "", "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISGSDWWLQHWHRQP", "length": 455, "header": "tr|A0A6Q8PGK4-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27489653, "end_pos": 27472323, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675729.1", "url": "https://www.ensembl.org/id/ENST00000675729.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502319.1", "url": "https://www.ensembl.org/id/ENSP00000502319.1" } ] } }, { "isoform_ac": "A0A6Q8PHF0-1", "url": "", "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTDGASWLFMVICCLP", "length": 126, "header": "tr|A0A6Q8PHF0-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27489653, "end_pos": 27484065, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675963.1", "url": "https://www.ensembl.org/id/ENST00000675963.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502708.1", "url": "https://www.ensembl.org/id/ENSP00000502708.1" } ] } }, { "isoform_ac": "F5GZ56-1", "url": "", "sequence": { "sequence": "MAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRVRRATKALGIGWPTEGVRQAATRD", "length": 511, "header": "tr|F5GZ56-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27485479, "end_pos": 27472178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416524.2", "url": "https://www.ensembl.org/id/ENST00000416524.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000407408.2", "url": "https://www.ensembl.org/id/ENSP00000407408.2" } ] } }, { "isoform_ac": "H0YAI8-1", "url": "", "sequence": { "sequence": "XLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLAVLSPSSSVKTW", "length": 324, "header": "tr|H0YAI8-1|H0YAI8_HUMAN Computationally mapped isoform of Intraflagellar transport 172 OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27454087, "end_pos": 27447620, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509128.5", "url": "https://www.ensembl.org/id/ENST00000509128.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427255.1", "url": "https://www.ensembl.org/id/ENSP00000427255.1" } ] } }, { "isoform_ac": "H7C161-1", "url": "", "sequence": { "sequence": "NFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDFQDTDIPFEVPLPAKQHVP", "length": 162, "header": "tr|H7C161-1|H7C161_HUMAN Computationally mapped isoform of Intraflagellar transport 172 OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27447922, "end_pos": 27445745, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420854.1", "url": "https://www.ensembl.org/id/ENST00000420854.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000398633.1", "url": "https://www.ensembl.org/id/ENSP00000398633.1" } ] } }, { "isoform_ac": "H7C186-1", "url": "", "sequence": { "sequence": "AQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKGCGGICGTSSTLGAGWRVQPCRGLLPQSARLWKQRPGGEVLDEGS", "length": 96, "header": "tr|H7C186-1|IF172_HUMAN Computationally mapped isoform of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27454134, "end_pos": 27450092, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450564.1", "url": "https://www.ensembl.org/id/ENST00000450564.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399017.1", "url": "https://www.ensembl.org/id/ENSP00000399017.1" } ] } }, { "isoform_ac": "H7C252-1", "url": "", "sequence": { "sequence": "XSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKVAGIYGVPAG", "length": 196, "header": "tr|H7C252-1|H7C252_HUMAN Computationally mapped isoform of Intraflagellar transport 172 OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=1 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27454636, "end_pos": 27453239, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443889.1", "url": "https://www.ensembl.org/id/ENST00000443889.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000404082.1", "url": "https://www.ensembl.org/id/ENSP00000404082.1" } ] } }, { "isoform_ac": "Q9UG01-1", "url": "", "sequence": { "sequence": 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"MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLAVLSPSSSVKTW", "length": 1525, "header": "sp|Q9UG01-2|IF172_HUMAN Isoform 2 of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=2 CANONICAL=Q9UG01-1" }, "locus": {} }, { "isoform_ac": "Q9UG01-3", "url": "", "sequence": { "sequence": "MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRVRRATKALGIGWPTEGVRQAATRD", "length": 532, "header": "sp|Q9UG01-3|IF172_HUMAN Isoform 3 of Intraflagellar transport protein 172 homolog OS=Homo sapiens OX=9606 GN=IFT172 PE=1 SV=2 CANONICAL=Q9UG01-1" }, "locus": { "chromosome": "2", "start_pos": 27489653, "end_pos": 27472178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359466.10", "url": "https://www.ensembl.org/id/ENST00000359466.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000352443.6", "url": "https://www.ensembl.org/id/ENSP00000352443.6" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Porter ME, Bower R, Knott JA, Byrd P, Dentler W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "10069812", "url": "https://glygen.org/publication/PubMed/10069812" } ] }, { "title": "Hedgehog induces opposite changes in turnover and subcellular localization of patched and smoothened.", "journal": "Cell", "date": "2000", "authors": "Denef N, Neubuser D, Perez L, Cohen SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "title": "Protein particles in Chlamydomonas flagella undergo a transport cycle consisting of four phases.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Iomini C, Babaev-Khaimov V, Sassaroli M, Piperno G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "11285270", "url": "https://glygen.org/publication/PubMed/11285270" } ] }, { "title": "G-protein signaling through tubby proteins.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Santagata S, Boggon TJ, Baird CL, Gomez CA, Zhao J, Shan WS, Myszka DG, Shapiro L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "11375483", "url": "https://glygen.org/publication/PubMed/11375483" } ] }, { "title": "Patched acts catalytically to suppress the activity of Smoothened.", "journal": "Nature", "date": "2002", "authors": "Taipale J, Cooper MK, Maiti T, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12192414", "url": "https://glygen.org/publication/PubMed/12192414" } ] }, { "title": "Ski is involved in transcriptional regulation by the repressor and full-length forms of Gli3.", "journal": "Genes & development", "date": "2002", "authors": "Dai P, Shinagawa T, Nomura T, Harada J, Kaul SC, Wadhwa R, Khan MM, Akimaru H, Sasaki H, Colmenares C, Ishii S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12435627", "url": "https://glygen.org/publication/PubMed/12435627" } ] }, { "title": "The intraflagellar transport machinery of Chlamydomonas reinhardtii.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2003", "authors": "Cole DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "12795688", "url": "https://glygen.org/publication/PubMed/12795688" } ] }, { "title": "Hedgehog signalling in the mouse requires intraflagellar transport proteins.", "journal": "Nature", "date": "2003", "authors": "Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "14603322", "url": "https://glygen.org/publication/PubMed/14603322" } ] }, { "title": "Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site.", "journal": "Gene", "date": "2004", "authors": "Agren M, Kogerman P, Kleman MI, Wessling M, Toftgard R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15087129", "url": "https://glygen.org/publication/PubMed/15087129" } ] }, { "title": "Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.", "journal": "Genes & development", "date": "2004", "authors": "Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "15231740", "url": "https://glygen.org/publication/PubMed/15231740" } ] }, { "title": "A dynein light intermediate chain, D1bLIC, is required for retrograde intraflagellar transport.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Hou Y, Pazour GJ, Witman GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "15269286", "url": "https://glygen.org/publication/PubMed/15269286" } ] }, { "title": "Two anterograde intraflagellar transport motors cooperate to build sensory cilia on C. elegans neurons.", "journal": "Nature cell biology", "date": "2004", "authors": "Snow JJ, Ou G, Gunnarson AL, Walker MR, Zhou HM, Brust-Mascher I, Scholey JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "15489852", "url": "https://glygen.org/publication/PubMed/15489852" } ] }, { "title": "Components of coated vesicles and nuclear pore complexes share a common molecular architecture.", "journal": "PLoS biology", "date": "2004", "authors": "Devos D, Dokudovskaya S, Alber F, Williams R, Chait BT, Sali A, Rout MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "15523559", "url": "https://glygen.org/publication/PubMed/15523559" } ] }, { "title": "Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Liu A, Wang B, Niswander LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15930098", "url": "https://glygen.org/publication/PubMed/15930098" } ] }, { "title": "Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lucker BF, Behal RH, Qin H, Siron LC, Taggart WD, Rosenbaum JL, Cole DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "15955805", "url": "https://glygen.org/publication/PubMed/15955805" } ] }, { "title": "Functional coordination of intraflagellar transport motors.", "journal": "Nature", "date": "2005", "authors": "Ou G, Blacque OE, Snow JJ, Leroux MR, Scholey JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "16049494", "url": "https://glygen.org/publication/PubMed/16049494" } ] }, { "title": "Cilia and Hedgehog responsiveness in the mouse.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16061793", "url": "https://glygen.org/publication/PubMed/16061793" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli.", "journal": "Developmental biology", "date": "2005", "authors": "May SR, Ashique AM, Karlen M, Wang B, Shen Y, Zarbalis K, Reiter J, Ericson J, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16229832", "url": "https://glygen.org/publication/PubMed/16229832" } ] }, { "title": "Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function.", "journal": "PLoS genetics", "date": "2005", "authors": "Haycraft CJ, Banizs B, Aydin-Son Y, Zhang Q, Michaud EJ, Yoder BK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16254602", "url": "https://glygen.org/publication/PubMed/16254602" } ] }, { "title": "Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.", "journal": "Nature genetics", "date": "2006", "authors": "Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16311594", "url": "https://glygen.org/publication/PubMed/16311594" } ] }, { "title": "Signaling from Smo to Ci/Gli: conservation and divergence of Hedgehog pathways from Drosophila to vertebrates.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16339192", "url": "https://glygen.org/publication/PubMed/16339192" } ] }, { "title": "GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16396903", "url": "https://glygen.org/publication/PubMed/16396903" } ] }, { "title": "Evolution of intraflagellar transport from coated vesicles and autogenous origin of the eukaryotic cilium.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2006", "authors": "Jekely G, Arendt D", "evidence": [ { "database": "Reactome", 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Genet.", "date": "2015", "authors": "Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA", "evidence": [ { "database": "UniProtKB", "id": "Q9UG01", "url": "https://www.uniprot.org/uniprot/Q9UG01" } ], "reference": [ { "type": "PubMed", "id": "25168386", "url": "https://glygen.org/publication/PubMed/25168386" } ] }, { "title": "Subunit composition of the human cytoplasmic dynein-2 complex.", "journal": "Journal of cell science", "date": "2014", "authors": "Asante D, Stevenson NL, Stephens DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "25205765", "url": "https://glygen.org/publication/PubMed/25205765" } ] }, { "title": "Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Taschner M, Kotsis F, Braeuer P, Kuehn EW, Lorentzen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "25349261", "url": "https://glygen.org/publication/PubMed/25349261" } ] }, { "title": "The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.", "journal": "Developmental cell", "date": "2014", "authors": "Liew GM, Ye F, Nager AR, Murphy JP, Lee JS, Aguiar M, Breslow DK, Gygi SP, Nachury MV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "25443296", "url": "https://glygen.org/publication/PubMed/25443296" } ] }, { "title": "Bardet-Biedl syndrome and related disorders in Japan.", "journal": "J. Hum. Genet.", "date": "2020", "authors": "Hirano M, Satake W, Moriyama N, Saida K, Okamoto N, Cha PC, Suzuki Y, Kusunoki S, Toda T", "evidence": [ { "database": "UniProtKB", "id": "Q9UG01", "url": "https://www.uniprot.org/uniprot/Q9UG01" } ], "reference": [ { "type": "PubMed", "id": "32451492", "url": "https://glygen.org/publication/PubMed/32451492" } ] }, { "title": "Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.", "journal": "Ophthalmic genetics", "date": "2021", "authors": "Romano F, Dautaj A, Esposito RA, Bertelli M, Staurenghi G, Salvetti AP", "evidence": [ { "database": "RefSeq", "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" } ], "reference": [ { "type": "PubMed", "id": "33393400", "url": "https://glygen.org/publication/PubMed/33393400" } ] }, { "title": "Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.", "journal": "Orphanet journal of rare diseases", "date": "2021", "authors": "Onodera S, Morita N, Nakamura Y, Takahashi S, Hashimoto K, Nomura T, Katakura A, Kosaki K, Azuma T", "evidence": [ { "database": "RefSeq", "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477" } ], "reference": [ { "type": "PubMed", "id": "34674729", "url": "https://glygen.org/publication/PubMed/34674729" } ] }, { "title": "Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.", "journal": "PloS one", "date": "2023", "authors": "Ne\u0159oldov\u00e1 Magdal\u00e9na, Ciara El\u017cbieta, Slatinsk\u00e1 Janka, Fra\u0148kov\u00e1 So\u0148a, Li\u0161kov\u00e1 Petra, Kotalov\u00e1 Radana, Globinovsk\u00e1 Janka, \u0160afa\u0159\u00edkov\u00e1 Mark\u00e9ta, Pfeiferov\u00e1 Lucie, Z\u016fnov\u00e1 Hana, Mr\u00e1zov\u00e1 Lenka, Str\u00e1neck\u00fd Viktor, Vrback\u00e1 Alena, Fabi\u00e1n Ond\u0159ej, Sticov\u00e1 Eva, Skanderov\u00e1 Daniela, \u0160perl Jan, Kalousov\u00e1 Marta, Zima Tom\u00e1\u0161, Macek Milan, Pawlowska Joanna, Knisely A 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