{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q6NUS6","secondaryAccessions":["A6NIC8","B0QZ90","B4DR81","Q6P7P3","Q6UW27","Q6ZQQ0","Q8N7K1","Q8NBQ0","Q96GF7","Q9Y3U1"],"uniProtkbId":"TECT3_HUMAN","entryAudit":{"firstPublicDate":"2006-04-04","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2006-04-04","entryVersion":159,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Tectonic-3"}},"flag":"Precursor"},"genes":[{"geneName":{"value":"TCTN3"},"synonyms":[{"value":"C10orf61"},{"value":"TECT3"}],"orfNames":[{"value":"PSEC0041"},{"value":"UNQ1881/PRO4324"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17464193"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22883145"}],"value":"Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Part of the tectonic-like complex (also named B9 complex)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q6NUS6","intActId":"EBI-11278332"},"interactantTwo":{"uniProtKBAccession":"P46379-2","geneName":"BAG6","intActId":"EBI-10988864"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Single-pass type I membrane protein","id":"SL-9905"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q6NUS6-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q6NUS6-2"],"sequenceIds":["VSP_017795","VSP_017796"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q6NUS6-3"],"sequenceIds":["VSP_017791","VSP_017794"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q6NUS6-4"],"sequenceIds":["VSP_017792","VSP_017793"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q6NUS6-5"],"sequenceIds":["VSP_043266","VSP_043267"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Orofaciodigital syndrome 4","diseaseAccession":"DI-03516","acronym":"OFD4","description":"A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.","diseaseCrossReference":{"database":"MIM","id":"258860"}},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Joubert syndrome 18","diseaseAccession":"DI-03515","acronym":"JBTS18","description":"A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect.","diseaseCrossReference":{"database":"MIM","id":"614815"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22883145"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22883145"}],"value":"The disease is caused by variants affecting the gene represented in this entry. TCTN3-mutated fibroblasts from JBTS18 patients fail to respond to Shh agonists suggesting that at least some of the defects in affected individuals may be secondary to reduced Shh signaling (PubMed:22883145)"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 3"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the tectonic family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAH68449.2","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"ABB90564.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"BAC11567.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAC87634.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":22,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":607,"modifier":"EXACT"}},"description":"Tectonic-3","featureId":"PRO_0000229921"},{"type":"Topological domain","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":581,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":582,"modifier":"EXACT"},"end":{"value":602,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":603,"modifier":"EXACT"},"end":{"value":607,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Region","location":{"start":{"value":21,"modifier":"EXACT"},"end":{"value":60,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":45,"modifier":"EXACT"},"end":{"value":54,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Glycosylation","location":{"start":{"value":78,"modifier":"EXACT"},"end":{"value":78,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":347,"modifier":"EXACT"},"end":{"value":347,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":151,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_017791","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":167,"modifier":"EXACT"},"end":{"value":246,"modifier":"EXACT"}},"description":"in isoform 5","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043266","alternativeSequence":{"originalSequence":"SNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYFPKWSVISLLRQPAGVGAGGLCAESNPAG","alternativeSequences":["C"]}},{"type":"Alternative sequence","location":{"start":{"value":210,"modifier":"EXACT"},"end":{"value":211,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_017792","alternativeSequence":{"originalSequence":"AG","alternativeSequences":["VS"]}},{"type":"Alternative sequence","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":607,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_017793","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":297,"modifier":"EXACT"},"end":{"value":365,"modifier":"EXACT"}},"description":"in isoform 5","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043267","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":297,"modifier":"EXACT"},"end":{"value":323,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_017794","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":402,"modifier":"EXACT"},"end":{"value":443,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_017795","alternativeSequence":{"originalSequence":"MTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQ","alternativeSequences":["VSFLELGGLLQPNEKSCKGFQTYVRLAKGEEFFVHYNEVLIY"]}},{"type":"Alternative sequence","location":{"start":{"value":444,"modifier":"EXACT"},"end":{"value":607,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_017796","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":95,"modifier":"EXACT"},"end":{"value":95,"modifier":"EXACT"}},"description":"found in a patient with Joubert syndrome also carrying 2 mutations in MKS1 gene, a deletion in intron 15 and a missense mutation 'C-80'; uncertain significance; dbSNP:rs749447795","featureCrossReferences":[{"database":"dbSNP","id":"rs749447795"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27377014"}],"featureId":"VAR_077521","alternativeSequence":{"originalSequence":"T","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":314,"modifier":"EXACT"},"end":{"value":314,"modifier":"EXACT"}},"description":"in JBTS18; dbSNP:rs793888508","featureCrossReferences":[{"database":"dbSNP","id":"rs793888508"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22883145"}],"featureId":"VAR_068823","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":30,"modifier":"EXACT"},"end":{"value":30,"modifier":"EXACT"}},"description":"in Ref. 3; BAC11567","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":492,"modifier":"EXACT"},"end":{"value":492,"modifier":"EXACT"}},"description":"in Ref. 3; BAC11567","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":516,"modifier":"EXACT"},"end":{"value":516,"modifier":"EXACT"}},"description":"in Ref. 4; CAB43242","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["Q"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0053","category":"Biological process","name":"Apoptosis"},{"id":"KW-1186","category":"Disease","name":"Ciliopathy"},{"id":"KW-0970","category":"Biological process","name":"Cilium biogenesis/degradation"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-0979","category":"Disease","name":"Joubert syndrome"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0732","category":"Domain","name":"Signal"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"16357211","citationType":"journal article","authors":["Reiter J.F.","Skarnes W.C."],"citationCrossReferences":[{"database":"PubMed","id":"16357211"},{"database":"DOI","id":"10.1101/gad.1363606"}],"title":"Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.","publicationDate":"2006","journal":"Genes Dev.","firstPage":"22","lastPage":"27","volume":"20"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"]},{"referenceNumber":2,"citation":{"id":"12975309","citationType":"journal article","authors":["Clark H.F.","Gurney A.L.","Abaya E.","Baker K.","Baldwin D.T.","Brush J.","Chen J.","Chow B.","Chui C.","Crowley C.","Currell B.","Deuel B.","Dowd P.","Eaton D.","Foster J.S.","Grimaldi C.","Gu Q.","Hass P.E.","Heldens S.","Huang A.","Kim H.S.","Klimowski L.","Jin Y.","Johnson S.","Lee J.","Lewis L.","Liao D.","Mark M.R.","Robbie E.","Sanchez C.","Schoenfeld J.","Seshagiri S.","Simmons L.","Singh J.","Smith V.","Stinson J.","Vagts A.","Vandlen R.L.","Watanabe C.","Wieand D.","Woods K.","Xie M.-H.","Yansura D.G.","Yi S.","Yu G.","Yuan J.","Zhang M.","Zhang Z.","Goddard A.D.","Wood W.I.","Godowski P.J.","Gray A.M."],"citationCrossReferences":[{"database":"PubMed","id":"12975309"},{"database":"DOI","id":"10.1101/gr.1293003"}],"title":"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.","publicationDate":"2003","journal":"Genome Res.","firstPage":"2265","lastPage":"2270","volume":"13"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)"]},{"referenceNumber":3,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5)"],"referenceComments":[{"value":"Teratocarcinoma","type":"TISSUE"},{"value":"Testis","type":"TISSUE"},{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"15164054","citationType":"journal article","authors":["Deloukas P.","Earthrowl M.E.","Grafham D.V.","Rubenfield M.","French L.","Steward C.A.","Sims S.K.","Jones M.C.","Searle S.","Scott C.","Howe K.","Hunt S.E.","Andrews T.D.","Gilbert J.G.R.","Swarbreck D.","Ashurst J.L.","Taylor A.","Battles J.","Bird C.P.","Ainscough R.","Almeida J.P.","Ashwell R.I.S.","Ambrose K.D.","Babbage A.K.","Bagguley C.L.","Bailey J.","Banerjee R.","Bates K.","Beasley H.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.C.","Burrill W.","Burton J.","Cahill P.","Camire D.","Carter N.P.","Chapman J.C.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.","Corby N.","Coulson A.","Dhami P.","Dutta I.","Dunn M.","Faulkner L.","Frankish A.","Frankland J.A.","Garner P.","Garnett J.","Gribble S.","Griffiths C.","Grocock R.","Gustafson E.","Hammond S.","Harley J.L.","Hart E.","Heath P.D.","Ho T.P.","Hopkins B.","Horne J.","Howden P.J.","Huckle E.","Hynds C.","Johnson C.","Johnson D.","Kana A.","Kay M.","Kimberley A.M.","Kershaw J.K.","Kokkinaki M.","Laird G.K.","Lawlor S.","Lee H.M.","Leongamornlert D.A.","Laird G.","Lloyd C.","Lloyd D.M.","Loveland J.","Lovell J.","McLaren S.","McLay K.E.","McMurray A.","Mashreghi-Mohammadi M.","Matthews L.","Milne S.","Nickerson T.","Nguyen M.","Overton-Larty E.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.","Rice C.M.","Rogosin A.","Ross M.T.","Sarafidou T.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Standring L.","Sycamore N.","Tester J.","Thorpe A.","Torcasso W.","Tracey A.","Tromans A.","Tsolas J.","Wall M.","Walsh J.","Wang H.","Weinstock K.","West A.P.","Willey D.L.","Whitehead S.L.","Wilming L.","Wray P.W.","Young L.","Chen Y.","Lovering R.C.","Moschonas N.K.","Siebert R.","Fechtel K.","Bentley D.","Durbin R.M.","Hubbard T.","Doucette-Stamm L.","Beck S.","Smith D.R.","Rogers J."],"citationCrossReferences":[{"database":"PubMed","id":"15164054"},{"database":"DOI","id":"10.1038/nature02462"}],"title":"The DNA sequence and comparative analysis of human chromosome 10.","publicationDate":"2004","journal":"Nature","firstPage":"375","lastPage":"381","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":6,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)","NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-607 (ISOFORM 2)"],"referenceComments":[{"value":"Lung","type":"TISSUE"},{"value":"Testis","type":"TISSUE"},{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"17464193","citationType":"journal article","authors":["Park K.M.","Kang E.","Jeon Y.-J.","Kim N.","Kim N.-S.","Yoo H.-S.","Yeom Y.I.","Kim S.J."],"citationCrossReferences":[{"database":"PubMed","id":"17464193"},{"database":"DOI","id":"10.1016/s1016-8478(23)07370-3"}],"title":"Identification of novel regulators of apoptosis using a high-throughput cell-based screen.","publicationDate":"2007","journal":"Mol. Cells","firstPage":"170","lastPage":"174","volume":"23"},"referencePositions":["FUNCTION"]},{"referenceNumber":8,"citation":{"id":"22883145","citationType":"journal article","authors":["Thomas S.","Legendre M.","Saunier S.","Bessieres B.","Alby C.","Bonniere M.","Toutain A.","Loeuillet L.","Szymanska K.","Jossic F.","Gaillard D.","Yacoubi M.T.","Mougou-Zerelli S.","David A.","Barthez M.A.","Ville Y.","Bole-Feysot C.","Nitschke P.","Lyonnet S.","Munnich A.","Johnson C.A.","Encha-Razavi F.","Cormier-Daire V.","Thauvin-Robinet C.","Vekemans M.","Attie-Bitach T."],"citationCrossReferences":[{"database":"PubMed","id":"22883145"},{"database":"DOI","id":"10.1016/j.ajhg.2012.06.017"}],"title":"TCTN3 mutations cause Mohr-Majewski syndrome.","publicationDate":"2012","journal":"Am. J. Hum. Genet.","firstPage":"372","lastPage":"378","volume":"91"},"referencePositions":["FUNCTION","INVOLVEMENT IN OFDS4","VARIANT JBTS18 ARG-314"]},{"referenceNumber":9,"citation":{"id":"27377014","citationType":"journal article","authors":["Bader I.","Decker E.","Mayr J.A.","Lunzer V.","Koch J.","Boltshauser E.","Sperl W.","Pietsch P.","Ertl-Wagner B.","Bolz H.","Bergmann C.","Rittinger O."],"citationCrossReferences":[{"database":"PubMed","id":"27377014"},{"database":"DOI","id":"10.1016/j.ejmg.2016.06.007"}],"title":"MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.","publicationDate":"2016","journal":"Eur. J. Med. Genet.","firstPage":"386","lastPage":"391","volume":"59"},"referencePositions":["VARIANT PRO-95"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"DQ278872","properties":[{"key":"ProteinId","value":"ABB90564.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK075357","properties":[{"key":"ProteinId","value":"BAC11567.1"},{"key":"Status","value":"ALT_FRAME"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY359022","properties":[{"key":"ProteinId","value":"AAQ89381.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK098295","properties":[{"key":"ProteinId","value":"BAC05278.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK128834","properties":[{"key":"ProteinId","value":"BAC87634.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK299141","properties":[{"key":"ProteinId","value":"BAG61193.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL050022","properties":[{"key":"ProteinId","value":"CAB43242.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL356632","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC009494","properties":[{"key":"ProteinId","value":"AAH09494.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC061582","properties":[{"key":"ProteinId","value":"AAH61582.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC068449","properties":[{"key":"ProteinId","value":"AAH68449.2"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS31258.2","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-1"},{"database":"CCDS","id":"CCDS44461.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-5"},{"database":"PIR","id":"T08708","properties":[{"key":"EntryName","value":"T08708"}]},{"database":"RefSeq","id":"NP_001137445.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001143973.2"}],"isoformId":"Q6NUS6-5"},{"database":"RefSeq","id":"NP_056446.4","properties":[{"key":"NucleotideSequenceId","value":"NM_015631.6"}],"isoformId":"Q6NUS6-1"},{"database":"AlphaFoldDB","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"117565","properties":[{"key":"Interactions","value":"364"}]},{"database":"ComplexPortal","id":"CPX-2531","properties":[{"key":"EntryName","value":"MKS transition zone complex"}]},{"database":"FunCoup","id":"Q6NUS6","properties":[{"key":"Number of interactors","value":"826"}]},{"database":"IntAct","id":"Q6NUS6","properties":[{"key":"Interactions","value":"332"}]},{"database":"MINT","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-TCTN3","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000483364","properties":[{"key":"Description","value":"-"}]},{"database":"MoonDB","id":"Q6NUS6","properties":[{"key":"Type","value":"Predicted"}]},{"database":"GlyCosmos","id":"Q6NUS6","properties":[{"key":"glycosylation","value":"3 sites, No reported glycans"}]},{"database":"GlyGen","id":"Q6NUS6","properties":[{"key":"glycosylation","value":"7 sites, 11 N-linked glycans (4 sites)"}]},{"database":"iPTMnet","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"TCTN3","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"91208025","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000483364","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"66705","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-1"},{"database":"ProteomicsDB","id":"66706","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-2"},{"database":"ProteomicsDB","id":"66707","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-3"},{"database":"ProteomicsDB","id":"66708","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-4"},{"database":"ProteomicsDB","id":"66709","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NUS6-5"},{"database":"Pumba","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"30655","properties":[{"key":"antibodies","value":"191 antibodies from 31 providers"}]},{"database":"DNASU","id":"26123","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000371209.5","properties":[{"key":"ProteinId","value":"ENSP00000360253.5"},{"key":"GeneId","value":"ENSG00000119977.23"}],"isoformId":"Q6NUS6-2"},{"database":"Ensembl","id":"ENST00000371217.10","properties":[{"key":"ProteinId","value":"ENSP00000360261.5"},{"key":"GeneId","value":"ENSG00000119977.23"}],"isoformId":"Q6NUS6-1"},{"database":"Ensembl","id":"ENST00000430368.6","properties":[{"key":"ProteinId","value":"ENSP00000387567.1"},{"key":"GeneId","value":"ENSG00000119977.23"}],"isoformId":"Q6NUS6-5"},{"database":"Ensembl","id":"ENST00000679984.1","properties":[{"key":"ProteinId","value":"ENSP00000504998.1"},{"key":"GeneId","value":"ENSG00000119977.23"}],"isoformId":"Q6NUS6-4"},{"database":"GeneID","id":"26123","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:26123","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000371217.10","properties":[{"key":"ProteinId","value":"ENSP00000360261.5"},{"key":"RefSeqNucleotideId","value":"NM_015631.6"},{"key":"RefSeqProteinId","value":"NP_056446.4"}]},{"database":"UCSC","id":"uc001klb.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q6NUS6-1"},{"database":"AGR","id":"HGNC:24519","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA162405513","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"26123","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"26123","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"TCTN3","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"TCTN3","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:24519","properties":[{"key":"GeneName","value":"TCTN3"}]},{"database":"HPA","id":"ENSG00000119977","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"TCTN3","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"258860","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"613847","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"614815","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000119977","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"475","properties":[{"key":"Disease","value":"Isolated Joubert syndrome"}]},{"database":"Orphanet","id":"564","properties":[{"key":"Disease","value":"Meckel syndrome"}]},{"database":"Orphanet","id":"2753","properties":[{"key":"Disease","value":"Orofaciodigital syndrome type 4"}]},{"database":"Orphanet","id":"2754","properties":[{"key":"Disease","value":"Orofaciodigital syndrome type 6"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000119977","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502RKDI","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00570000079101","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_016974_1_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"KVQFGVN","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"184109at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q6NUS6","properties":[{"key":"Number of GO annotations","value":"2 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-5620912","properties":[{"key":"PathwayName","value":"Anchoring of the basal body to the plasma membrane"}]},{"database":"SignaLink","id":"Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000119977","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"26123","properties":[{"key":"hits","value":"4 hits in 1145 CRISPR screens"}]},{"database":"ChiTaRS","id":"TCTN3","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"26123","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q6NUS6","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q6NUS6","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 10"}]},{"database":"RNAct","id":"Q6NUS6","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000119977","properties":[{"key":"ExpressionPatterns","value":"Expressed in corpus epididymis and 181 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q6NUS6","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0060170","properties":[{"key":"GoTerm","value":"C:ciliary membrane"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0035869","properties":[{"key":"GoTerm","value":"C:ciliary transition zone"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22179047"}]},{"database":"GO","id":"GO:0036038","properties":[{"key":"GoTerm","value":"C:MKS complex"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22179047"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17464193"}]},{"database":"GO","id":"GO:0060271","properties":[{"key":"GoTerm","value":"P:cilium assembly"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043065","properties":[{"key":"GoTerm","value":"P:positive regulation of apoptotic process"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17464193"}]},{"database":"GO","id":"GO:1904491","properties":[{"key":"GoTerm","value":"P:protein localization to ciliary transition zone"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22179047"}]},{"database":"GO","id":"GO:0007224","properties":[{"key":"GoTerm","value":"P:smoothened signaling pathway"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"22883145"}]},{"database":"InterPro","id":"IPR040354","properties":[{"key":"EntryName","value":"TCTN1-3"}]},{"database":"InterPro","id":"IPR011677","properties":[{"key":"EntryName","value":"TCTN1-3_dom"}]},{"database":"InterPro","id":"IPR057724","properties":[{"key":"EntryName","value":"TCTN1-3_N"}]},{"database":"PANTHER","id":"PTHR14611","properties":[{"key":"EntryName","value":"TECTONIC FAMILY MEMBER"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR14611:SF4","properties":[{"key":"EntryName","value":"TECTONIC-3"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF25752","properties":[{"key":"EntryName","value":"DUF1619_N"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF07773","properties":[{"key":"EntryName","value":"TCTN_DUF1619"},{"key":"MatchStatus","value":"2"}]}],"sequence":{"value":"MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDGGTLQSPSEATATRPAVPGLPTVVPTLVTPSAPGNRTVDLFPVLPICVCDLTPGACDINCCCDRDCYLLHPRTVFSFCLPGSVRSSSWVCVDNSVIFRSNSPFPSRVFMDSNGIRQFCVHVNNSNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYFPKWSVISLLRQPAGVGAGGLCAESNPAGFLESKSTTCTRFFKNLASSCTLDSALNAASYYNFTVLKVPRSMTDPQNMEFQVPVILTSQANAPLLAGNTCQNVVSQVTYEIETNGTFGIQKVSVSLGQTNLTVEPGASLQQHFILRFRAFQQSTAASLTSPRSGNPGYIVGKPLLALTDDISYSMTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQQEIYQTLHGRPRPEYVAIFGNADPAQKGGWTRILNRHCSISAINCTSCCLIPVSLEIQVLWAYVGLLSNPQAHVSGVRFLYQCQSIQDSQQVTEVSLTTLVNFVDITQKPQPPRGQPKMDWKWPFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLGVLNLETM","length":607,"molWeight":66157,"crc64":"41CE275DEDF358E6","md5":"1C43E99D2E7F8D503DD7B9A1B88EA23E"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":5,"DISEASE":2,"MISCELLANEOUS":1,"SIMILARITY":1,"SEQUENCE CAUTION":4},"countByFeatureType":{"Signal":1,"Chain":1,"Topological domain":2,"Transmembrane":1,"Region":1,"Compositional bias":1,"Glycosylation":3,"Alternative sequence":8,"Natural variant":2,"Sequence conflict":3},"uniParcId":"UPI000004BA6E"}}