{ "uniprot_canonical_ac": "A0AVF1-1", "ptm_annotation": [], "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": "Q96CU4_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120170", "pmid": "21873635", "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:0005929", "pmid": "", "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:0036064", "pmid": "21873635", "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", "pmid": "21873635", "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", "pmid": "", "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:0030992", "pmid": "", "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", "pmid": "", "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", "pmid": "21873635", "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", "pmid": "21873635", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "manchette assembly", "id": "GO:1905198" } ], "total": 8, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19913121", "type": "PubMed", "id": "19913121" } ], "title": "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "id": "NP_001305262.1", "database": "RefSeq" }, { "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_001274441.1", "id": "NP_001274441.1", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20628086", "type": "PubMed", "id": "20628086" } ], "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", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441.1", "id": "NP_001274441.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "id": "NP_001305262.1", "database": "RefSeq" }, { "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24596149", "type": "PubMed", "id": "24596149" } ], "title": "TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.", "journal": "eLife", "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_001274441.1", "id": "NP_001274441.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "id": "NP_001305262.1", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27173435", "type": "PubMed", "id": "27173435" } ], "title": "An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "id": "NP_001305262.1", "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" } ], "uniprot_ac": "A0AVF1", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "type": "synonym", "resource": "UniProtKB", "name": "FLJ12571" }, { "url": "https://www.uniprot.org/uniprot/A0AVF1", "type": "synonym", "resource": "UniProtKB", "name": "IFT56" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVF1", "type": "synonym", "resource": "RefSeq", "name": "TTC26" }, { "url": "https://www.uniprot.org/uniprot/A0AVF1", "type": "recommended", "resource": "UniProtKB", "name": "TTC26" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVF1", "type": "synonym", "resource": "RefSeq", "name": "dyf-13; DYF13; IFT56" }, { "url": "https://www.uniprot.org/uniprot/A0AVF1", "type": "synonym", "resource": "UniProtKB", "name": "hCG_16387" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-1", "isoform_ac": "A0AVF1-1", "locus": { "end_pos": 139133858, "strand": "-", "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#A0AVF1-2", "isoform_ac": "A0AVF1-2", "locus": { "end_pos": 139133858, "strand": "-", "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#A0AVF1-3", "isoform_ac": "A0AVF1-3", "locus": { "end_pos": 139133858, "strand": "-", "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, "strand": "-", "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|B7Z2T3_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=1 SV=1 CANONICAL=A0AVF1-1", "length": 423, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z6R6-1", "isoform_ac": "B7Z6R6-1", "locus": { "end_pos": 139133858, "strand": "-", "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|B7Z6R6_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=1 SV=1 CANONICAL=A0AVF1-1", "length": 447, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#F8WEZ4-1", "isoform_ac": "F8WEZ4-1", "locus": { "end_pos": 139133858, "strand": "-", "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#Q96CU4-1", "isoform_ac": "Q96CU4-1", "locus": { "end_pos": 139133858, "strand": "-", "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/get_linkdb?-t+pathway+hsa:79989", "resource": "KEGG Pathway", "id": "hsa:79989", "name": "" }, { "reaction_list": [ "R-HSA-5617820", "R-HSA-5617825", "R-HSA-5617828", "R-HSA-5617829", "R-HSA-5624948", "R-HSA-5624949", "R-HSA-5624951", "R-HSA-5624952", "R-HSA-5625416", "R-HSA-5625421", "R-HSA-5625424", "R-HSA-5625426" ], "resource": "Reactome", "description": "Intraflagellar transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "name": "Intraflagellar transport" } ], "reaction_participants": [], "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": "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_001274441.1", "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_001274441.1", "id": "NP_001274441.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "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_001305262.1", "id": "NP_001305262.1", "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" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441.1", "id": "NP_001274441.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "id": "NP_001305262.1", "database": "RefSeq" } ] }, { "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_001274441.1", "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_001274441.1", "id": "NP_001274441.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "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_001305262.1", "id": "NP_001305262.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5U2N8-1", "protein_name": "Intraflagellar transport protein 56", "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" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ttc26", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BS45-1", "protein_name": "Intraflagellar transport protein 56", "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" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ttc26", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "start_pos": 221, "alt_nt": "A", "chr_id": "7", "ref_nt": "G", "chr_pos": "138833067", "disease": [ { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } }, { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "T", "subjects_tested": "1044", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs748726653.", "end_pos": 221, "minor_allelic_frequency": "", "subjects_positive": "2" }, { "sequence_org": "E", "start_pos": 81, "alt_nt": "A", "chr_id": "7", "ref_nt": "G", "chr_pos": "138824642", "disease": [ { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - skin cancer", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of skin", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "melanoma and Non-melanoma skin cancer", "id": "DOID:4159" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "name": "skin cancer", "id": "DOID:4159" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "K", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs1260374560.", "end_pos": 81, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262.1", "ac": "NP_001305262.1", "name": "intraflagellar transport protein 56 isoform 6", "summary": "" }, "reaction_enzymes": [], "site_annotation": [ { "end_pos": 250, "annotation": "n_glycosylation_sequon", "start_pos": 248 }, { "end_pos": 410, "annotation": "n_glycosylation_sequon", "start_pos": 408 }, { "end_pos": 84, "annotation": "n_glycosylation_sequon", "start_pos": 82 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" 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"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_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_0002107", "uberon": "0002107", "name": "Liver" }, "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_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_0009853", "uberon": "0009853", "name": "Body of uterus" }, "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", "locus": { "end_pos": 139191986, "strand": "+", "start_pos": 139133744, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000105948", "id": "ENSG00000105948", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Intraflagellar transport protein 56" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVF1", "type": "synonym", "resource": "RefSeq", "name": "TPR repeat protein 26; tetratricopeptide repeat protein 26; intraflagellar transport protein 56" }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "TPR repeat protein 26" }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Tetratricopeptide repeat protein 26" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVF1", "type": "synonym", "resource": "RefSeq", "name": "intraflagellar transport protein 56 isoform 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVF1", "type": "synonym", "resource": "RefSeq", "name": "intraflagellar transport protein 56 isoform 4" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVF1", "type": "synonym", "resource": "RefSeq", "name": "intraflagellar transport protein 56 isoform 6" } ] }