{ "uniprot_canonical_ac": "A0AVF1-1", "sequence": { "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 554, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" }, "uniprot_id": "IFT56_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "intraflagellar transport protein 56 isoform 2", "tetratricopeptide repeat protein 26; TPR repeat protein 26; intraflagellar transport protein 56" ], "uniprotkb": [ "Intraflagellar transport protein 56", "Tetratricopeptide repeat protein 26", "TPR repeat protein 26" ] }, "gene": { "refseq": [ "TTC26", "dyf-13", " DYF13", " IFT56" ], "uniprotkb": [ "TTC26", "IFT56", "dyf-13", " DYF13", " IFT56" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Intraflagellar transport protein 56; Tetratricopeptide repeat protein 26; TPR repeat protein 26." }, "publication": [ { "title": "An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27173435", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R", "date": "2016", "pmid": "27173435" }, { "title": "TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24596149", "journal": "eLife", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF", "date": "2014", "pmid": "24596149" }, { "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.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20628086", "journal": "Diabetes care", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S", "date": "2010", "pmid": "20628086" }, { "title": "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19913121", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, 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", "date": "2009", "pmid": "19913121" } ], "glycosylation": [], "mutation": [ { "start_pos": 221, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs748726653.", "sequence_org": "A", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "T", "subjects_tested": "1044", "end_pos": 221, "type": "Point mutation" }, { "start_pos": 221, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs748726653.", "sequence_org": "A", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "T", "subjects_tested": "678", "end_pos": 221, "type": "Point mutation" }, { "start_pos": 81, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs1260374560.", "sequence_org": "E", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "sequence_mut": "K", "subjects_tested": "820", "end_pos": 81, "type": "Point mutation" }, { "start_pos": 81, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.6", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs1260374560.", "sequence_org": "E", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "K", "subjects_tested": "162", "end_pos": 81, "type": "Point mutation" }, { "start_pos": 221, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs748726653.", "sequence_org": "A", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "T", "subjects_tested": "558", "end_pos": 221, "type": "Point mutation" }, { "start_pos": 81, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs1260374560.", "sequence_org": "E", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "K", "subjects_tested": "558", "end_pos": 81, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-1", "isoform_ac": "A0AVF1-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000464848", "id": "ENST00000464848", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419279", "id": "ENSP00000419279", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 554, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z6R6-1", "isoform_ac": "B7Z6R6-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000478836", "id": "ENST00000478836", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419178", "id": "ENSP00000419178", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7Z6R6-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 447, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-2", "isoform_ac": "A0AVF1-2", "locus": { "end_pos": 139133858, "start_pos": 139189362, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430935", "id": "ENST00000430935", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410655", "id": "ENSP00000410655", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVF1-2|IFT56_HUMAN Isoform 2 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 487, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKRDPSRSAPFTEKHR" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#F8WEZ4-1", "isoform_ac": "F8WEZ4-1", "locus": { "end_pos": 139133858, "start_pos": 139146989, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000476296", "id": "ENST00000476296", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419639", "id": "ENSP00000419639", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WEZ4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 135, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKEK" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-3", "isoform_ac": "A0AVF1-3", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000343187", "id": "ENST00000343187", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000339135", "id": "ENSP00000339135", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVF1-3|IFT56_HUMAN Isoform 3 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 523, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z2T3-1", "isoform_ac": "B7Z2T3-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000495038", "id": "ENST00000495038", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418788", "id": "ENSP00000418788", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7Z2T3-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 423, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#Q96CU4-1", "isoform_ac": "Q96CU4-1", "locus": { "end_pos": 139133858, "start_pos": 139161043, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000474035", "id": "ENST00000474035", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000443253", "id": "ENSP00000443253", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q96CU4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 271, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVNNDFPS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:79989", "resource": "KEGG Pathway", "id": "hsa:79989", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "resource": "Reactome", "id": "R-HSA-5620924", "name": "Intraflagellar transport" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#function", "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": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#function", "id": "A0AVF1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5U2N8-1", "protein_name": "Intraflagellar transport protein 56; Tetratricopeptide repeat protein 26; TPR repeat protein 26.", "sequence": { "length": 554, "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEEDTNLWIGYCAFHLGDYKRALEEYENAAKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVF1/", "id": "A0AVF1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11786", "id": "11786", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BS45-1", "protein_name": "Intraflagellar transport protein 56; Tetratricopeptide repeat protein 26; TPR repeat protein 26; Protein hop-sterile.", "sequence": { "length": 554, "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEDDTNLWIGYCAFHLGDYKRALEEYENATKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVF1/", "id": "A0AVF1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11786", "id": "11786", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "ac": "NP_001138392.1", "name": "intraflagellar transport protein 56 isoform 2; tetratricopeptide repeat protein 26; TPR repeat protein 26; intraflagellar transport protein 56.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120170", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport particle B binding", "id": "GO:0120170" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary base", "id": "GO:0097546" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "cilium", "id": "GO:0005929" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport particle B", "id": "GO:0030992" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary tip", "id": "GO:0097542" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary anterograde transport", "id": "GO:0035720" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "cilium assembly", "id": "GO:0060271" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "smoothened signaling pathway", "id": "GO:0007224" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport", "id": "GO:0042073" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "protein localization to cilium", "id": "GO:0061512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "axoneme assembly", "id": "GO:0035082" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905198", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "manchette assembly", "id": "GO:1905198" } ], "total": 8, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 84, "annotation": "n_glycosylation_sequon", "start_pos": 82 }, { "end_pos": 250, "annotation": "n_glycosylation_sequon", "start_pos": 248 }, { "end_pos": 410, "annotation": "n_glycosylation_sequon", "start_pos": 408 } ], "crossref": [ { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AVF1*", "id": "A0AVF1", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011990", "id": "IPR011990", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013026", "id": "IPR013026", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019734", "id": "IPR019734", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR030511", "id": "IPR030511", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:79989", "id": "hsa:79989", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/CAEFWVA/", "id": "CAEFWVA", "database": "OMA" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14781", "id": "PTHR14781", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0AVF1", "id": "PR_A0AVF1", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/79989", "id": "79989", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21882", "id": "21882", "database": "HGNC" }, { "url": "https://www.nextprot.org/entry/NX_A0AVF1", "id": "NX_A0AVF1", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC26", "id": "TTC26", "database": "GeneCards" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ] } ], "uniprot_ac": "A0AVF1", "disease": [], "mass": { "monoisotopic_mass": 64178.0, "chemical_mass": 64178.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "name": "TTC26; IFT56; dyf-13; DYF13; IFT56.", "locus": { "end_pos": 139191986, "start_pos": 139133744, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000105948", "id": "ENSG00000105948", "database": "Ensembl Gene" } ] } } ] }