LOCUS       NM_001082538            2222 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tectonic family member 1 (TCTN1), transcript variant
            1, mRNA.
ACCESSION   NM_001082538
VERSION     NM_001082538.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2222)
  AUTHORS   Xu,X., Gao,F., Wang,J., Long,C., Tao,L., Ding,L. and Ji,Y.
  TITLE     microRNA-216a-5p inhibits the development of gastric cancer through
            target combination with TCTN1
  JOURNAL   Minerva Med 114 (3), 323-331 (2023)
   PUBMED   32486612
  REMARK    GeneRIF: microRNA-216a-5p inhibits the development of gastric
            cancer through target combination with TCTN1.
REFERENCE   2  (bases 1 to 2222)
  AUTHORS   Bai,G., Wei,N., Li,F., Zhao,P., Meng,Z., Zou,B., Liu,Y., Xu,K.,
            Li,K., Yao,C. and Yang,P.
  TITLE     Function and transcriptional regulation of TCTN1 in oral squamous
            cell carcinoma
  JOURNAL   Oncol Rep 47 (2) (2022)
   PUBMED   34859261
  REMARK    GeneRIF: Function and transcriptional regulation of TCTN1 in oral
            squamous cell carcinoma.
REFERENCE   3  (bases 1 to 2222)
  AUTHORS   Wang,H., Jiang,W., Dai,M., Xiao,B., Xu,Y., Sun,Y., Liu,Y., Ying,X.,
            Sun,Y., Wei,W. and Ji,X.
  TITLE     [Diagnosis of two cases from one family with Joubert syndrome
            caused by novel mutations of TCTN1 gene by whole exome sequencing]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 36 (7), 686-689 (2019)
   PUBMED   31302911
  REMARK    GeneRIF: Two novel TCTN1 mutations were identified in a family with
            Joubert syndrome
REFERENCE   4  (bases 1 to 2222)
  AUTHORS   Al-Qattan,M.M., Shaheen,R. and Alkuraya,F.S.
  TITLE     Expanding the allelic disorders linked to TCTN1 to include Varadi
            syndrome (Orofaciodigital syndrome type VI)
  JOURNAL   Am J Med Genet A 173 (9), 2439-2441 (2017)
   PUBMED   28631893
  REMARK    GeneRIF: we describe the phenotype of a patient with Varadi
            syndrome who is homozygous for a previously reported mutation in
            TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that
            allelic disorders linked to TCTN1 include Varadi syndrome, in
            addition to Joubert syndrome and Meckel-Gruber syndrome.
REFERENCE   5  (bases 1 to 2222)
  AUTHORS   Meng,D., Chen,Y., Zhao,Y., Wang,J., Yun,D., Yang,S., Chen,J.,
            Chen,H. and Lu,D.
  TITLE     Expression and prognostic significance of TCTN1 in human
            glioblastoma
  JOURNAL   J Transl Med 12, 288 (2014)
   PUBMED   25304031
  REMARK    GeneRIF: TCTN1 may serve as a novel prognostic factor and a
            potential therapeutic target for glioblastoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2222)
  AUTHORS   Alazami,A.M., Alshammari,M.J., Salih,M.A., Alzahrani,F., Hijazi,H.,
            Seidahmed,M.Z., Abu Safieh,L., Aldosary,M., Khan,A.O. and
            Alkuraya,F.S.
  TITLE     Molecular characterization of Joubert syndrome in Saudi Arabia
  JOURNAL   Hum Mutat 33 (10), 1423-1428 (2012)
   PUBMED   22693042
REFERENCE   7  (bases 1 to 2222)
  AUTHORS   Garcia-Gonzalo,F.R., Corbit,K.C., Sirerol-Piquer,M.S.,
            Ramaswami,G., Otto,E.A., Noriega,T.R., Seol,A.D., Robinson,J.F.,
            Bennett,C.L., Josifova,D.J., Garcia-Verdugo,J.M., Katsanis,N.,
            Hildebrandt,F. and Reiter,J.F.
  TITLE     A transition zone complex regulates mammalian ciliogenesis and
            ciliary membrane composition
  JOURNAL   Nat Genet 43 (8), 776-784 (2011)
   PUBMED   21725307
  REMARK    GeneRIF: Mutations in Tctn1 is associated with ciliopathies.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2222)
  AUTHORS   Reiter,J.F. and Skarnes,W.C.
  TITLE     Tectonic, a novel regulator of the Hedgehog pathway required for
            both activation and inhibition
  JOURNAL   Genes Dev 20 (1), 22-27 (2006)
   PUBMED   16357211
REFERENCE   9  (bases 1 to 2222)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 2222)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK295514.1, AY358184.1,
            CA419765.1 and AC144522.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001082538.2.
            
            Summary: This gene encodes a member of a family of secreted and
            transmembrane proteins. The orthologous gene in mouse functions
            downstream of smoothened and rab23 to modulate hedgehog signal
            transduction. This protein is a component of the tectonic-like
            complex, which forms a barrier between the ciliary axoneme and the
            basal body. A mutation in this gene was found in a family with
            Joubert syndrome-13. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358184.1, SRR1803613.81979.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397659.9/ ENSP00000380779.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-94                AK295514.1         103-196
            95-1920             AY358184.1         60-1885
            1921-1922           CA419765.1         17-18               c
            1923-2222           AC144522.12        35329-35628
FEATURES             Location/Qualifiers
     source          1..2222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..2222
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /note="tectonic family member 1"
                     /db_xref="GeneID:79600"
                     /db_xref="HGNC:HGNC:26113"
                     /db_xref="MIM:609863"
     exon            1..274
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1833
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="tectonic-1 isoform 1 precursor"
                     /protein_id="NP_001076007.1"
                     /db_xref="CCDS:CCDS41834.1"
                     /db_xref="GeneID:79600"
                     /db_xref="HGNC:HGNC:26113"
                     /db_xref="MIM:609863"
                     /translation="MRPRGLPPLLVVLLGCWASVSAQTDATPAVTTEGLNSTEAALAT
                     FGTFPSTRPPGTPRAPGPSSGPRPTPVTDVAVLCVCDLSPAQCDINCCCDPDCSSVDF
                     SVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPPQRVFELVDQINPSIFCIHITNYKP
                     ALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTSDS
                     FLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVP
                     DSRKKVPITVQSIVIQSLNKTLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYT
                     DAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVPLSGNPGYVVGLPLAAGF
                     QPHKGSGIIQTTNRYGQLTILHSTTEQDCLALEGVRTPVLFGYTMQSGCKLRLTGALP
                     CQLVAQKVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKHFVLQDSCQL
                     PGALVIEVKWTKYGSLLNPQAKIVNVTANLISSSFPEANSGNERTILISTAVTFVDVS
                     APAEAGFRAPPAINARLPFNFFFPFV"
     exon            275..395
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            396..526
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            527..678
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            679..766
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            767..876
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            877..897
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1032
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1158
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1244
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1385
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..1548
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..1689
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1834
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..2222
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1898..1903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /note="hexamer: ATTAAA"
     polyA_site      1922
                     /gene="TCTN1"
                     /gene_synonym="JBTS13; TECT1"
                     /note="major polyA site"
ORIGIN      
        1 gttgccgggc aacgcgctgt ccatgtcgcg ggcctcgctg ggactccctg ggagatgagg
       61 ccgcgaggtc tcccgccgct cctggtggtg ctcctgggct gctgggcctc cgtgagcgcc
      121 cagaccgatg ccaccccggc ggtgacgaca gagggcctca actccaccga ggcagccctg
      181 gccaccttcg gaactttccc gtcgaccagg ccccccggga ctcccagggc tccagggccc
      241 tcctccggcc ccaggcctac cccagtcacg gacgttgctg ttctctgtgt ctgtgactta
      301 tccccagcac agtgtgacat caactgctgc tgtgatcccg actgcagctc cgtggatttc
      361 agtgtctttt ctgcctgctc agttccagtt gtcacgggcg acagccagtt ttgtagtcaa
      421 aaagcagtca tctattcatt gaattttaca gcaaacccac ctcaaagagt atttgaactt
      481 gttgaccaga ttaatccatc tattttctgc attcatatta caaactataa acctgcatta
      541 tcctttatta atccagaagt acctgatgaa aacaattttg atacattgat gaaaacatct
      601 gatggtttta cattgaatgc tgaatcatat gtttccttca caaccaaact ggatattcct
      661 actgctgcta aatatgagta tggggttcct ctgcagactt cagattcgtt tctgagattt
      721 ccttcgtccc tgacatcatc tctgtgcact gataataacc ctgcagcgtt tctggtgaac
      781 caggctgtta agtgcaccag aaaaataaat ttagaacagt gtgaagaaat tgaagccctc
      841 agcatggctt tttacagcag cccggaaatt ctgagggtac ctgattcaag aaaaaaggtc
      901 cctatcactg ttcagtccat cgtcattcag tctctaaata aaacgctcac ccgacgggag
      961 gacactgatg tgctgcagcc gactctcgtc aacgctggac actttagcct ttgcgtgaat
     1021 gttgttcttg aggtaaagta cagcctcaca tacacagatg caggtgaagt caccaaagct
     1081 gatctctcat tcgttctggg gacagttagc agcgtagtgg tcccactgca gcaaaagttt
     1141 gaaattcatt ttcttcagga aaatacccag ccagtccctc tcagtggaaa ccctggttat
     1201 gtcgtggggc tcccattagc tgctggattc cagcctcata aggggtctgg gattattcag
     1261 accacaaata gatatggaca gcttactatt cttcatagca caactgagca agactgctta
     1321 gcactggagg gggtccggac cccagtatta tttggttaca ctatgcaatc tggctgtaaa
     1381 ctaagactga ctggagctct cccgtgtcag ctcgtagcac agaaggtgaa gagcctgctg
     1441 tggggccagg gcttcccaga ttacgtggcc ccttttggaa attcccaggc ccaggacatg
     1501 ctggactggg tgcccatcca cttcatcacc cagtcattca acaggaagca ttttgttttg
     1561 caggattcct gccagctccc aggggctttg gttatagaag tgaagtggac taaatacgga
     1621 tccctgctga atccacaggc caaaatagtc aatgtaactg caaatctaat ttcatcctcc
     1681 tttcctgagg ccaactcagg aaatgaaagg acgattctta tttccactgc ggttactttt
     1741 gtggatgtgt ctgcacctgc agaggcaggc ttcagagctc caccagccat caatgccagg
     1801 ctgcccttta acttcttctt cccgtttgtt tgacaatgct cagatgcatc agttccttaa
     1861 tatacacgtg aaatttgaaa actgtacatt cggtgagatt aaattttata tacaactagc
     1921 aattgtccag ctttgttgct cattttcaat taaggctaaa gtgttcaaca tgagaaaatg
     1981 tgatacattt gatacagtgt ggggtgggag tggatgggca gctcttggtg gtactggacc
     2041 ttccacaagg ctgtgtccac ccagaatcca tgctggcagg agggaggcag aggtatcaaa
     2101 ccaaacctct caccaagcgg cccaggaggg gcagctgttc ctctcgtgac agcacaggcc
     2161 catgagacag tgtcttcttt ttgaggggag ctggtccggg tctagttcac ttcaccaaga
     2221 ag
//
