{ "uniprot_canonical_ac": "A0AVF1-1", "uniprot_ac": "A0AVF1", "uniprot_id": "IFT56_HUMAN", "mass": { "chemical_mass": 64178.0, "monoisotopic_mass": 64178.0 }, "refseq": { "ac": "NP_001138392", "name": "intraflagellar transport protein 56 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, "gene_names": [ { "name": "IFT56", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" }, { "name": "BRENS; dyf-13; DYF13; TTC26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" }, { "name": "FLJ12571", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" }, { "name": "IFT56", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" }, { "name": "TTC26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" }, { "name": "hCG_16387", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" } ], "protein_names": [ { "name": "Intraflagellar transport protein 56", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#names_and_taxonomy", "id": "A0AVF1" }, { "name": "TPR repeat protein 26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#names_and_taxonomy", "id": "A0AVF1" }, { "name": "Tetratricopeptide repeat protein 26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#names_and_taxonomy", "id": "A0AVF1" }, { "name": "intraflagellar transport protein 56 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" }, { "name": "tetratricopeptide repeat protein 26; TPR repeat protein 26; intraflagellar transport protein 56; tetratricopeptide repeat domain 26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" } ], "function": [ { "annotation": "Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "PubMed", "id": "31595528", "url": "https://glygen.org/publication/PubMed/31595528" } ] }, { "annotation": "Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme.", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1#function" }, { "database": "PubMed", "id": "31595528", "url": "https://glygen.org/publication/PubMed/31595528" } ] }, { "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "PubMed", "id": "20628086", "url": "https://glygen.org/publication/PubMed/20628086" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "PubMed", "id": "19913121", "url": "https://glygen.org/publication/PubMed/19913121" } ] }, { "annotation": "Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "PubMed", "id": "32617964", "url": "https://glygen.org/publication/PubMed/32617964" } ] }, { "annotation": "TTC26 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. Erratum:[Elife. 2014 Apr 01;3:e02897. PMID: 24692455] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "PubMed", "id": "24596149", "url": "https://glygen.org/publication/PubMed/24596149" } ] } ], "disease": [ { "disease_id": "MONDO:0859191", "recommended_name": { "id": "MONDO:0859191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859191", "name": "biliary, renal, neurologic, and skeletal syndrome", "description": "" }, "synonyms": [ { "id": "MIM:619534", "resource": "MIM", "url": "https://www.omim.org/entry/619534", "name": "Biliary, renal, neurologic, and skeletal syndrome", "description": "Biliary, renal, neurologic, and skeletal syndrome" } ], "evidence": [ { "id": "619534", "database": "MIM", "url": "https://www.omim.org/entry/619534" } ] } ], "snv": [ { "evidence": [ { "id": "A0AVF1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "139139896", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E81", "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "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. 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "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": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "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 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"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": "" }, { 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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 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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "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 neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "IFT56", "url": "https://www.uniprot.org/uniprot/A0AVF1", "locus": { "chromosome": "7", "start_pos": 139191986, "end_pos": 139133744, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105948", "url": "https://www.ensembl.org/id/ENSG00000105948" } ] } } ], "crossref": [ { "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "IFT56", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFT56", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "79989", "url": "https://www.ncbi.nlm.nih.gov/gene/79989", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "21882", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21882", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A0AVF1", "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AVF1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011990", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019734", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019734", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030511", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030511", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:79989", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79989", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "617453", "url": "http://www.omim.org/entry/617453", "database": "MIM", "categories": [ "Other" ] }, { "id": "619534", "url": "http://www.omim.org/entry/619534", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A0AVF1", "url": "https://www.nextprot.org/entry/NX_A0AVF1", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "FIIRRDY", "url": "https://omabrowser.org/oma/group/FIIRRDY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5473627at2759", "url": "http://www.orthodb.org/?query=5473627at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14781", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14781", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14781:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14781:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF12895", "url": "http://pfam.xfam.org/family/PF12895", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A0AVF1", "url": "https://pharos.nih.gov/targets/A0AVF1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A0AVF1", "url": "http://purl.obolibrary.org/obo/PR_A0AVF1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AVF1-1", "url": "https://www.uniprot.org/uniprot/A0AVF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AVF1-2", "url": "https://www.uniprot.org/uniprot/A0AVF1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AVF1-3", "url": "https://www.uniprot.org/uniprot/A0AVF1-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z2T3", "url": "https://www.uniprot.org/uniprot/B7Z2T3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z2T3-1", "url": "https://www.uniprot.org/uniprot/B7Z2T3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z6R6", "url": "https://www.uniprot.org/uniprot/B7Z6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z6R6-1", "url": "https://www.uniprot.org/uniprot/B7Z6R6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEZ4", "url": "https://www.uniprot.org/uniprot/F8WEZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEZ4-1", "url": "https://www.uniprot.org/uniprot/F8WEZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96CU4", "url": "https://www.uniprot.org/uniprot/Q96CU4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96CU4-1", "url": "https://www.uniprot.org/uniprot/Q96CU4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 554, "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "isoforms": [ { "isoform_ac": "A0AVF1-1", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#A0AVF1-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 554, "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464848.5", "url": "https://www.ensembl.org/id/ENST00000464848.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419279.1", "url": "https://www.ensembl.org/id/ENSP00000419279.1" } ] } }, { "isoform_ac": "A0AVF1-2", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#A0AVF1-2", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKRDPSRSAPFTEKHR", "length": 487, "header": "sp|A0AVF1-2|IFT56_HUMAN Isoform 2 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189362, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430935.5", "url": "https://www.ensembl.org/id/ENST00000430935.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410655.1", "url": "https://www.ensembl.org/id/ENSP00000410655.1" } ] } }, { "isoform_ac": "A0AVF1-3", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#A0AVF1-3", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 523, "header": "sp|A0AVF1-3|IFT56_HUMAN Isoform 3 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343187.8", "url": "https://www.ensembl.org/id/ENST00000343187.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000339135.4", "url": "https://www.ensembl.org/id/ENSP00000339135.4" } ] } }, { "isoform_ac": "B7Z2T3-1", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#B7Z2T3-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 423, "header": "tr|B7Z2T3-1|B7Z2T3_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495038.5", "url": "https://www.ensembl.org/id/ENST00000495038.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418788.1", "url": "https://www.ensembl.org/id/ENSP00000418788.1" } ] } }, { "isoform_ac": "B7Z6R6-1", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#B7Z6R6-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 447, "header": "tr|B7Z6R6-1|B7Z6R6_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478836.6", "url": "https://www.ensembl.org/id/ENST00000478836.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000419178.2", "url": "https://www.ensembl.org/id/ENSP00000419178.2" } ] } }, { "isoform_ac": "F8WEZ4-1", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#F8WEZ4-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKEK", "length": 135, "header": "tr|F8WEZ4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139146989, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476296.1", "url": "https://www.ensembl.org/id/ENST00000476296.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419639.1", "url": "https://www.ensembl.org/id/ENSP00000419639.1" } ] } }, { "isoform_ac": "Q96CU4-1", "url": "https://www.uniprot.org/uniprotkb/A0AVF1/entry#Q96CU4-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVNNDFPS", "length": 271, "header": "tr|Q96CU4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=IFT56 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139161043, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474035.6", "url": "https://www.ensembl.org/id/ENST00000474035.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000443253.1", "url": "https://www.ensembl.org/id/ENSP00000443253.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 167, "end_pos": 167, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Tyr167" }, { "start_pos": 174, "end_pos": 174, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Tyr174" }, { "start_pos": 553, "end_pos": 553, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1" } ], "site_lbl": "Ser553" } ], "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": "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": 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{ "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": "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": "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", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "16435301", "url": "https://glygen.org/publication/PubMed/16435301" } ] }, { "title": "Functional modulation of IFT kinesins extends the sensory repertoire of ciliated neurons in Caenorhabditis elegans.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Evans JE, Snow JJ, Gunnarson AL, Ou G, Stahlberg H, McDonald KL, Scholey JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "16492809", "url": "https://glygen.org/publication/PubMed/16492809" } ] }, { "title": "The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Follit JA, Tuft RA, Fogarty KE, Pazour GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "16775004", "url": "https://glygen.org/publication/PubMed/16775004" } ] }, { "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-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "16782012", "url": "https://glygen.org/publication/PubMed/16782012" } ] }, { "title": "Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Hou Y, Qin H, Follit JA, Pazour GJ, Rosenbaum JL, Witman GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "17312020", "url": "https://glygen.org/publication/PubMed/17312020" } ] }, { "title": "Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Ou G, Koga M, Blacque OE, Murayama T, Ohshima Y, Schafer JC, Li C, Yoder BK, Leroux MR, Scholey JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "17314406", "url": "https://glygen.org/publication/PubMed/17314406" } ] }, { "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-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Intraflagellar transport motors in cilia: moving along the cell's antenna.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Scholey JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "18180368", "url": "https://glygen.org/publication/PubMed/18180368" } ] }, { "title": "The homodimeric kinesin, Kif17, is essential for vertebrate photoreceptor sensory outer segment development.", "journal": "Developmental biology", "date": "2008", "authors": "Insinna C, Pathak N, Perkins B, Drummond I, Besharse JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "18304522", "url": "https://glygen.org/publication/PubMed/18304522" } ] }, { "title": "Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.", "journal": "Nature cell biology", "date": "2008", "authors": "Omori Y, Zhao C, Saras A, Mukhopadhyay S, Kim W, Furukawa T, Sengupta P, Veraksa A, Malicki J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "18364699", "url": "https://glygen.org/publication/PubMed/18364699" } ] }, { "title": "An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.", "journal": "PLoS genetics", "date": "2008", "authors": "Li C, Inglis PN, Leitch CC, Efimenko E, Zaghloul NA, Mok CA, Davis EE, Bialas NJ, Healey MP, Heon E, Zhen M, Swoboda P, Katsanis N, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "18369462", "url": "https://glygen.org/publication/PubMed/18369462" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "ODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machinery.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Ahmed NT, Gao C, Lucker BF, Cole DG, Mitchell DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "18852297", "url": "https://glygen.org/publication/PubMed/18852297" } ] }, { "title": "The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex.", "journal": "PLoS genetics", "date": "2008", "authors": "Follit JA, San Agustin JT, Xu F, Jonassen JA, Samtani R, Lo CW, Pazour GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "19112494", "url": "https://glygen.org/publication/PubMed/19112494" } ] }, { "title": "Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.", "journal": "Current topics in developmental biology", "date": "2008", "authors": "Pedersen LB, Rosenbaum JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "19147001", "url": "https://glygen.org/publication/PubMed/19147001" } ] }, { "title": "Characterization of mouse IFT complex B.", "journal": "Cell motility and the cytoskeleton", "date": "2009", "authors": "Follit JA, Xu F, Keady BT, Pazour GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "19253336", "url": "https://glygen.org/publication/PubMed/19253336" } ] }, { "title": "Different roles for KIF17 and kinesin II in photoreceptor development and maintenance.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2009", "authors": "Insinna C, Humby M, Sedmak T, Wolfrum U, Besharse JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "19384852", "url": "https://glygen.org/publication/PubMed/19384852" } ] }, { "title": "SnapShot: Intraflagellar transport.", "journal": "Cell", "date": "2009", "authors": "Cole DG, Snell WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "19450523", "url": "https://glygen.org/publication/PubMed/19450523" } ] }, { "title": "Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii.", "journal": "Genetics", "date": "2009", "authors": "Iomini C, Li L, Esparza JM, Dutcher SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": 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Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ], "reference": [ { "type": "PubMed", "id": "19913121", "url": "https://glygen.org/publication/PubMed/19913121" } ] }, { "title": "Direct interactions of intraflagellar transport complex B proteins IFT88, IFT52, and IFT46.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lucker BF, Miller MS, Dziedzic SA, Blackmarr PT, Cole DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "20435895", "url": 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ARL-3 coordinate intraflagellar transport and ciliogenesis.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Li Y, Wei Q, Zhang Y, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "20530210", "url": "https://glygen.org/publication/PubMed/20530210" } ] }, { "title": "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.", "journal": "Diabetes care", "date": "2010", "authors": "Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S", "evidence": [ { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ], "reference": [ { "type": "PubMed", "id": "20628086", "url": "https://glygen.org/publication/PubMed/20628086" } ] }, { "title": "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.", "journal": "Genes & development", "date": "2010", "authors": "Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "20889716", "url": "https://glygen.org/publication/PubMed/20889716" } ] }, { "title": "Ciliogenesis: building the cell's antenna.", "journal": "Nature reviews. Molecular cell biology", "date": "2011", "authors": "Ishikawa H, Marshall WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "21427764", "url": "https://glygen.org/publication/PubMed/21427764" } ] }, { "title": "Kinesin motors and primary cilia.", "journal": "Biochemical Society transactions", "date": "2011", "authors": "Verhey KJ, Dishinger J, Kee HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "21936775", "url": "https://glygen.org/publication/PubMed/21936775" } ] }, { "title": "Architecture and function of IFT complex proteins in ciliogenesis.", "journal": "Differentiation; research in biological diversity", "date": "2012", "authors": "Taschner M, Bhogaraju S, Lorentzen E", "evidence": [ { "database": "Reactome", "id": 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"reference": [ { "type": "PubMed", "id": "22992454", "url": "https://glygen.org/publication/PubMed/22992454" } ] }, { "title": "Intraflagellar transport complex structure and cargo interactions.", "journal": "Cilia", "date": "2013", "authors": "Bhogaraju S, Engel BD, Lorentzen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "23945166", "url": "https://glygen.org/publication/PubMed/23945166" } ] }, { "title": "Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.", "journal": "Science (New York, N.Y.)", "date": "2013", "authors": "Bhogaraju S, Cajanek L, Fort C, Blisnick T, Weber K, Taschner M, Mizuno N, Lamla S, Bastin P, Nigg EA, Lorentzen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "23990561", "url": 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stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.", "journal": "Clinical genetics", "date": "2020", "authors": "David O, Eskin-Schwartz M, Ling G, Dolgin V, Kristal E, Benkowitz E, Osyntsov L, Gradstein L, Birk OS, Loewenthal N, Yerushalmi B", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ], "reference": [ { "type": "PubMed", "id": "32617964", "url": "https://glygen.org/publication/PubMed/32617964" } ] }, { "title": "A motility in the eukaryotic flagellum unrelated to flagellar beating.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Kozminski KG, Johnson KA, Forscher P, Rosenbaum JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } 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