TECT3_HUMAN
ID TECT3_HUMAN Reviewed; 607 AA.
AC Q6NUS6; A6NIC8; B0QZ90; B4DR81; Q6P7P3; Q6UW27; Q6ZQQ0; Q8N7K1; Q8NBQ0;
AC Q96GF7; Q9Y3U1;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 04-APR-2006, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Tectonic-3;
DE Flags: Precursor;
GN Name=TCTN3; Synonyms=C10orf61, TECT3; ORFNames=PSEC0041, UNQ1881/PRO4324;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=16357211; DOI=10.1101/gad.1363606;
RA Reiter J.F., Skarnes W.C.;
RT "Tectonic, a novel regulator of the Hedgehog pathway required for both
RT activation and inhibition.";
RL Genes Dev. 20:22-27(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5).
RC TISSUE=Teratocarcinoma, Testis, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 30-607 (ISOFORM 2).
RC TISSUE=Lung, Testis, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP FUNCTION.
RX PubMed=17464193;
RA Park K.M., Kang E., Jeon Y.-J., Kim N., Kim N.-S., Yoo H.-S., Yeom Y.I.,
RA Kim S.J.;
RT "Identification of novel regulators of apoptosis using a high-throughput
RT cell-based screen.";
RL Mol. Cells 23:170-174(2007).
RN [8]
RP FUNCTION, INVOLVEMENT IN OFDS4, AND VARIANT JBTS18 ARG-314.
RX PubMed=22883145; DOI=10.1016/j.ajhg.2012.06.017;
RA Thomas S., Legendre M., Saunier S., Bessieres B., Alby C., Bonniere M.,
RA Toutain A., Loeuillet L., Szymanska K., Jossic F., Gaillard D.,
RA Yacoubi M.T., Mougou-Zerelli S., David A., Barthez M.A., Ville Y.,
RA Bole-Feysot C., Nitschke P., Lyonnet S., Munnich A., Johnson C.A.,
RA Encha-Razavi F., Cormier-Daire V., Thauvin-Robinet C., Vekemans M.,
RA Attie-Bitach T.;
RT "TCTN3 mutations cause Mohr-Majewski syndrome.";
RL Am. J. Hum. Genet. 91:372-378(2012).
RN [9]
RP VARIANT PRO-95.
RX PubMed=27377014; DOI=10.1016/j.ejmg.2016.06.007;
RA Bader I., Decker E., Mayr J.A., Lunzer V., Koch J., Boltshauser E.,
RA Sperl W., Pietsch P., Ertl-Wagner B., Bolz H., Bergmann C., Rittinger O.;
RT "MKS1 mutations cause Joubert syndrome with agenesis of the corpus
RT callosum.";
RL Eur. J. Med. Genet. 59:386-391(2016).
CC -!- FUNCTION: Part of the tectonic-like complex which is required for
CC tissue-specific ciliogenesis and may regulate ciliary membrane
CC composition (By similarity). May be involved in apoptosis regulation.
CC Necessary for signal transduction through the sonic hedgehog (Shh)
CC signaling pathway. {ECO:0000250, ECO:0000269|PubMed:17464193,
CC ECO:0000269|PubMed:22883145}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q6NUS6; P46379-2: BAG6; NbExp=3; IntAct=EBI-11278332, EBI-10988864;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q6NUS6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NUS6-2; Sequence=VSP_017795, VSP_017796;
CC Name=3;
CC IsoId=Q6NUS6-3; Sequence=VSP_017791, VSP_017794;
CC Name=4;
CC IsoId=Q6NUS6-4; Sequence=VSP_017792, VSP_017793;
CC Name=5;
CC IsoId=Q6NUS6-5; Sequence=VSP_043266, VSP_043267;
CC -!- DISEASE: Orofaciodigital syndrome 4 (OFD4) [MIM:258860]: A form of
CC orofaciodigital syndrome, a group of heterogeneous disorders
CC characterized by malformations of the oral cavity, face and digits, and
CC associated phenotypic abnormalities that lead to the delineation of
CC various subtypes. OFD4 patients have tongue nodules, multiple frenulae,
CC broad flat nose, hypertelorism, and short rib polydactyly with tibial
CC dysplasia (Majewski syndrome). The presence of severe tibial aplasia
CC differentiates OFD4 from OFD1. Additional features of cystic dysplastic
CC kidneys and brain malformation, including occipital encephalocele, are
CC observed in severely affected patients. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- DISEASE: Joubert syndrome 18 (JBTS18) [MIM:614815]: A form of Joubert
CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy and renal
CC disease. JBTS18 patients have vermis agenesis and the molar tooth sign
CC as well as severe kyphoscoliosis. Other features include intrauterine
CC growth retardation, oral anomalies, micrognathism, polydactyly and
CC camptodactyly, joint laxity, horseshoe kidney, and ventricular septal
CC defect. {ECO:0000269|PubMed:22883145}. Note=The disease is caused by
CC variants affecting the gene represented in this entry. TCTN3-mutated
CC fibroblasts from JBTS18 patients fail to respond to Shh agonists
CC suggesting that at least some of the defects in affected individuals
CC may be secondary to reduced Shh signaling (PubMed:22883145).
CC {ECO:0000269|PubMed:22883145}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the tectonic family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH68449.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=ABB90564.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC11567.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC87634.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; DQ278872; ABB90564.1; ALT_INIT; mRNA.
DR EMBL; AK075357; BAC11567.1; ALT_FRAME; mRNA.
DR EMBL; AY359022; AAQ89381.1; -; mRNA.
DR EMBL; AK098295; BAC05278.1; -; mRNA.
DR EMBL; AK128834; BAC87634.1; ALT_INIT; mRNA.
DR EMBL; AK299141; BAG61193.1; -; mRNA.
DR EMBL; AL050022; CAB43242.2; -; mRNA.
DR EMBL; AL356632; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009494; AAH09494.2; -; mRNA.
DR EMBL; BC061582; AAH61582.1; -; mRNA.
DR EMBL; BC068449; AAH68449.2; ALT_INIT; mRNA.
DR CCDS; CCDS31258.2; -. [Q6NUS6-1]
DR CCDS; CCDS44461.1; -. [Q6NUS6-5]
DR PIR; T08708; T08708.
DR RefSeq; NP_001137445.1; NM_001143973.1. [Q6NUS6-5]
DR RefSeq; NP_056446.4; NM_015631.5. [Q6NUS6-1]
DR AlphaFoldDB; Q6NUS6; -.
DR BioGRID; 117565; 359.
DR IntAct; Q6NUS6; 315.
DR STRING; 9606.ENSP00000483364; -.
DR MoonDB; Q6NUS6; Predicted.
DR GlyGen; Q6NUS6; 5 sites.
DR iPTMnet; Q6NUS6; -.
DR PhosphoSitePlus; Q6NUS6; -.
DR BioMuta; TCTN3; -.
DR DMDM; 91208025; -.
DR EPD; Q6NUS6; -.
DR jPOST; Q6NUS6; -.
DR MassIVE; Q6NUS6; -.
DR MaxQB; Q6NUS6; -.
DR PaxDb; Q6NUS6; -.
DR PeptideAtlas; Q6NUS6; -.
DR PRIDE; Q6NUS6; -.
DR ProteomicsDB; 66705; -. [Q6NUS6-1]
DR ProteomicsDB; 66706; -. [Q6NUS6-2]
DR ProteomicsDB; 66707; -. [Q6NUS6-3]
DR ProteomicsDB; 66708; -. [Q6NUS6-4]
DR ProteomicsDB; 66709; -. [Q6NUS6-5]
DR Antibodypedia; 30655; 204 antibodies from 31 providers.
DR DNASU; 26123; -.
DR Ensembl; ENST00000371209.5; ENSP00000360253.5; ENSG00000119977.22. [Q6NUS6-2]
DR Ensembl; ENST00000371217.10; ENSP00000360261.5; ENSG00000119977.22. [Q6NUS6-1]
DR Ensembl; ENST00000430368.6; ENSP00000387567.1; ENSG00000119977.22. [Q6NUS6-5]
DR Ensembl; ENST00000679984.1; ENSP00000504998.1; ENSG00000119977.22. [Q6NUS6-4]
DR GeneID; 26123; -.
DR KEGG; hsa:26123; -.
DR MANE-Select; ENST00000371217.10; ENSP00000360261.5; NM_015631.6; NP_056446.4.
DR UCSC; uc001klb.4; human. [Q6NUS6-1]
DR CTD; 26123; -.
DR DisGeNET; 26123; -.
DR GeneCards; TCTN3; -.
DR GeneReviews; TCTN3; -.
DR HGNC; HGNC:24519; TCTN3.
DR HPA; ENSG00000119977; Low tissue specificity.
DR MalaCards; TCTN3; -.
DR MIM; 258860; phenotype.
DR MIM; 613847; gene.
DR MIM; 614815; phenotype.
DR neXtProt; NX_Q6NUS6; -.
DR OpenTargets; ENSG00000119977; -.
DR Orphanet; 564; Meckel syndrome.
DR Orphanet; 2753; Orofaciodigital syndrome type 4.
DR Orphanet; 2754; Orofaciodigital syndrome type 6.
DR PharmGKB; PA162405513; -.
DR VEuPathDB; HostDB:ENSG00000119977; -.
DR eggNOG; ENOG502RKDI; Eukaryota.
DR GeneTree; ENSGT00570000079101; -.
DR HOGENOM; CLU_016974_1_0_1; -.
DR InParanoid; Q6NUS6; -.
DR OMA; KVQFGVN; -.
DR OrthoDB; 446525at2759; -.
DR PhylomeDB; Q6NUS6; -.
DR TreeFam; TF329169; -.
DR PathwayCommons; Q6NUS6; -.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR SignaLink; Q6NUS6; -.
DR BioGRID-ORCS; 26123; 3 hits in 1069 CRISPR screens.
DR ChiTaRS; TCTN3; human.
DR GenomeRNAi; 26123; -.
DR Pharos; Q6NUS6; Tdark.
DR PRO; PR:Q6NUS6; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q6NUS6; protein.
DR Bgee; ENSG00000119977; Expressed in corpus epididymis and 179 other tissues.
DR ExpressionAtlas; Q6NUS6; baseline and differential.
DR Genevisible; Q6NUS6; HS.
DR GO; GO:0060170; C:ciliary membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0043065; P:positive regulation of apoptotic process; IDA:UniProtKB.
DR GO; GO:0007224; P:smoothened signaling pathway; IMP:UniProtKB.
DR InterPro; IPR040354; Tectonic.
DR InterPro; IPR011677; Tectonic_dom.
DR PANTHER; PTHR14611; PTHR14611; 1.
DR Pfam; PF07773; DUF1619; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Apoptosis; Ciliopathy; Cilium biogenesis/degradation;
KW Disease variant; Glycoprotein; Joubert syndrome; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..607
FT /note="Tectonic-3"
FT /id="PRO_0000229921"
FT TOPO_DOM 23..581
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 582..602
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 603..607
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 21..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 22..55
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 78
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 179
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 347
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..151
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017791"
FT VAR_SEQ 167..246
FT /note="SNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYF
FT PKWSVISLLRQPAGVGAGGLCAESNPAG -> C (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043266"
FT VAR_SEQ 210..211
FT /note="AG -> VS (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017792"
FT VAR_SEQ 212..607
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017793"
FT VAR_SEQ 297..365
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043267"
FT VAR_SEQ 297..323
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017794"
FT VAR_SEQ 402..443
FT /note="MTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQ -> VSFLEL
FT GGLLQPNEKSCKGFQTYVRLAKGEEFFVHYNEVLIY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017795"
FT VAR_SEQ 444..607
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017796"
FT VARIANT 95
FT /note="T -> P (found in a patient with Joubert syndrome
FT also carrying 2 mutations in MKS1 gene, a deletion in
FT intron 15 and a missense mutation 'C-80'; unknown
FT pathological significance; dbSNP:rs749447795)"
FT /evidence="ECO:0000269|PubMed:27377014"
FT /id="VAR_077521"
FT VARIANT 314
FT /note="G -> R (in JBTS18; dbSNP:rs793888508)"
FT /evidence="ECO:0000269|PubMed:22883145"
FT /id="VAR_068823"
FT CONFLICT 30
FT /note="G -> E (in Ref. 3; BAC11567)"
FT /evidence="ECO:0000305"
FT CONFLICT 492
FT /note="C -> R (in Ref. 3; BAC11567)"
FT /evidence="ECO:0000305"
FT CONFLICT 516
FT /note="H -> Q (in Ref. 4; CAB43242)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 607 AA; 66157 MW; 41CE275DEDF358E6 CRC64;
MRTPQLALLQ VFFLVFPDGV RPQPSSSPSG AVPTSLELQR GTDGGTLQSP SEATATRPAV
PGLPTVVPTL VTPSAPGNRT VDLFPVLPIC VCDLTPGACD INCCCDRDCY LLHPRTVFSF
CLPGSVRSSS WVCVDNSVIF RSNSPFPSRV FMDSNGIRQF CVHVNNSNLN YFQKLQKVNA
TNFQALAAEF GGESFTSTFQ TQSPPSFYRA GDPILTYFPK WSVISLLRQP AGVGAGGLCA
ESNPAGFLES KSTTCTRFFK NLASSCTLDS ALNAASYYNF TVLKVPRSMT DPQNMEFQVP
VILTSQANAP LLAGNTCQNV VSQVTYEIET NGTFGIQKVS VSLGQTNLTV EPGASLQQHF
ILRFRAFQQS TAASLTSPRS GNPGYIVGKP LLALTDDISY SMTLLQSQGN GSCSVKRHEV
QFGVNAISGC KLRLKKADCS HLQQEIYQTL HGRPRPEYVA IFGNADPAQK GGWTRILNRH
CSISAINCTS CCLIPVSLEI QVLWAYVGLL SNPQAHVSGV RFLYQCQSIQ DSQQVTEVSL
TTLVNFVDIT QKPQPPRGQP KMDWKWPFDF FPFKVAFSRG VFSQKCSVSP ILILCLLLLG
VLNLETM
