LOCUS       NM_015631               2518 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tectonic family member 3 (TCTN3), transcript variant
            1, mRNA.
ACCESSION   NM_015631 NM_001013840
VERSION     NM_015631.6
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 2518)
  AUTHORS   Hussain,S., Nawaz,S., Khan,H., Acharya,A., Schrauwen,I., Ahmad,W.
            and Leal,S.M.
  TITLE     A splice site variant in TCTN3 underlies an atypical form of
            orofaciodigital syndrome IV
  JOURNAL   Ann Hum Genet 86 (6), 291-296 (2022)
   PUBMED   36039988
  REMARK    GeneRIF: A splice site variant in TCTN3 underlies an atypical form
            of orofaciodigital syndrome IV.
REFERENCE   2  (bases 1 to 2518)
  AUTHORS   Chen,H.X., Yang,Z.Y., Hou,H.T., Wang,J., Wang,X.L., Yang,Q., Liu,L.
            and He,G.W.
  TITLE     Novel mutations of TCTN3/LTBP2 with cellular function changes in
            congenital heart disease associated with polydactyly
  JOURNAL   J Cell Mol Med 24 (23), 13751-13762 (2020)
   PUBMED   33098376
  REMARK    GeneRIF: Novel mutations of TCTN3/LTBP2 with cellular function
            changes in congenital heart disease associated with polydactyly.
REFERENCE   3  (bases 1 to 2518)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2518)
  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. and Attie-Bitach,T.
  TITLE     TCTN3 mutations cause Mohr-Majewski syndrome
  JOURNAL   Am J Hum Genet 91 (2), 372-378 (2012)
   PUBMED   22883145
  REMARK    GeneRIF: TCTN3 mutations cause Mohr-Majewski syndrome.
REFERENCE   5  (bases 1 to 2518)
  AUTHORS   Park,K.M., Kang,E., Jeon,Y.J., Kim,N., Kim,N.S., Yoo,H.S.,
            Yeom,Y.I. and Kim,S.J.
  TITLE     Identification of novel regulators of apoptosis using a
            high-throughput cell-based screen
  JOURNAL   Mol Cells 23 (2), 170-174 (2007)
   PUBMED   17464193
REFERENCE   6  (bases 1 to 2518)
  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   7  (bases 1 to 2518)
  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   8  (bases 1 to 2518)
  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 BC068449.1 and CN427798.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_015631.5.
            
            Summary: This gene encodes a member of the tectonic gene family
            which functions in Hedgehog signal transduction and development of
            the neural tube. Mutations in this gene have been associated with
            Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Sep 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Sequence Note: A downstream AUG translation start codon is selected
            for this RefSeq based on better conservation support, and on a
            higher probability of an N-terminal signal peptide being present in
            the resulting protein. The use of an alternative upstream AUG start
            codon would result in a protein that is 18 aa longer at the
            N-terminus. Translation from the annotated downstream start codon
            is likely to occur via leaky scanning.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068449.1, DQ278872.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371217.10/ ENSP00000360261.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2503              BC068449.1         217-2719
            2504-2518           CN427798.1         215-229
FEATURES             Location/Qualifiers
     source          1..2518
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..2518
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /note="tectonic family member 3"
                     /db_xref="GeneID:26123"
                     /db_xref="HGNC:HGNC:24519"
                     /db_xref="MIM:613847"
     exon            1..284
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1852
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="tectonic-3 isoform a precursor"
                     /protein_id="NP_056446.4"
                     /db_xref="CCDS:CCDS31258.2"
                     /db_xref="GeneID:26123"
                     /db_xref="HGNC:HGNC:24519"
                     /db_xref="MIM:613847"
                     /translation="MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDG
                     GTLQSPSEATATRPAVPGLPTVVPTLVTPSAPGNRTVDLFPVLPICVCDLTPGACDIN
                     CCCDRDCYLLHPRTVFSFCLPGSVRSSSWVCVDNSVIFRSNSPFPSRVFMDSNGIRQF
                     CVHVNNSNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYF
                     PKWSVISLLRQPAGVGAGGLCAESNPAGFLESKSTTCTRFFKNLASSCTLDSALNAAS
                     YYNFTVLKVPRSMTDPQNMEFQVPVILTSQANAPLLAGNTCQNVVSQVTYEIETNGTF
                     GIQKVSVSLGQTNLTVEPGASLQQHFILRFRAFQQSTAASLTSPRSGNPGYIVGKPLL
                     ALTDDISYSMTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQQEIYQTL
                     HGRPRPEYVAIFGNADPAQKGGWTRILNRHCSISAINCTSCCLIPVSLEIQVLWAYVG
                     LLSNPQAHVSGVRFLYQCQSIQDSQQVTEVSLTTLVNFVDITQKPQPPRGQPKMDWKW
                     PFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLGVLNLETM"
     exon            285..408
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            409..527
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            528..655
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            656..764
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            765..880
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            881..916
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            917..997
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1123
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1231
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1326
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1480
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1618
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..2518
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2019..2024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /note="hexamer: AATAAA"
     polyA_site      2042
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
     regulatory      2487..2492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /note="hexamer: AATAAA"
     polyA_site      2518
                     /gene="TCTN3"
                     /gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
                     /note="major polyA site"
ORIGIN      
        1 cgtcggaccc ggaggccctg aatgccccat gcgcacccca cagctcgcgc tcctgcaagt
       61 gttctttctg gtgttccccg atggcgtccg gcctcagccc tcttcctccc catcaggggc
      121 agtgcccacg tctttggagc tgcagcgagg gacggatggc ggaaccctcc agtccccttc
      181 agaggcgact gcaactcgcc cggccgtgcc tggactccct acagtggtcc ctactctcgt
      241 gactccctcg gcccctggga ataggactgt ggacctcttc ccagtcttac cgatctgtgt
      301 ctgtgacttg actcctggag cctgcgatat aaattgctgc tgcgacaggg actgctatct
      361 tctccatccg aggacagttt tctccttctg ccttccaggc agcgtaaggt cttcaagctg
      421 ggtttgtgta gacaactctg ttatcttcag gagtaattcc ccgtttcctt caagagtttt
      481 catggattct aatggaatca ggcagttttg tgtccatgtg aacaactcaa acttaaacta
      541 tttccagaag cttcaaaagg tcaatgcaac caacttccag gccctggctg cagagtttgg
      601 aggcgaatca ttcacttcaa cattccaaac tcaatcacca ccatcttttt acagggctgg
      661 ggaccccatt cttacttact tccccaagtg gtctgtaata agcttgctga gacaacctgc
      721 aggagttgga gctgggggac tctgtgctga aagcaatcct gcaggtttcc tagagagtaa
      781 aagtacaact tgcactcgtt ttttcaagaa cctggctagt agctgtacct tggattcagc
      841 cctcaatgct gcctcttact ataacttcac agtcttaaag gttccaagaa gcatgactga
      901 tccacagaat atggagttcc aggttcctgt aatacttacc tcacaggcta atgctcctct
      961 gttggctgga aacacttgtc agaatgtagt ttctcaggtc acctatgaga tagagaccaa
     1021 tgggactttt ggaatccaga aagtttctgt cagtttggga caaaccaacc tgactgttga
     1081 gccaggcgct tccttacagc aacacttcat ccttcgcttc agggcttttc aacagagcac
     1141 agctgcttct ctcaccagtc ctagaagtgg gaatcctggc tatatagttg ggaagccact
     1201 cttggctctg actgatgata taagttactc aatgaccctc ttacagagcc agggtaatgg
     1261 aagttgctct gttaaaagac atgaagtgca gtttggagtg aatgcaatat ctggatgcaa
     1321 gctcaggttg aagaaggcag actgcagcca cttgcagcag gagatttatc agactcttca
     1381 tggaaggccc agaccagagt atgttgccat ctttggtaat gctgacccag cccagaaagg
     1441 agggtggacc aggatcctca acaggcactg cagcatttca gctataaact gtacttcctg
     1501 ctgtctcata ccagtttccc tggagatcca ggtattgtgg gcatatgtag gtctcctgtc
     1561 caacccgcaa gctcatgtat caggagttcg attcctatac cagtgccagt ctatacagga
     1621 ttctcagcaa gttacagaag tatctttgac aactcttgtg aactttgtgg acattaccca
     1681 gaagccacag cctccaaggg gccaacccaa aatggactgg aaatggccat tcgacttctt
     1741 tcccttcaaa gtggcattca gcagaggagt attctctcaa aaatgctcag tctctcccat
     1801 ccttatcctg tgcctcttac tacttggagt tctcaaccta gagactatgt gaagaaaaga
     1861 aaataatcag atttcagttt tccctatgag aaactctgag gcagccactt atcttggcta
     1921 aatagaacct cacctgctca tgaccagaga gcatttagga taatagagga cctaactgaa
     1981 ggaatccttg tatatgaaag gagttatttt agaaaagcaa taaaaatatt ttattcatca
     2041 tagctctctg ctttgggctc tgcaggccac cagatacaca tgaggcccct acttctcaag
     2101 ctgggaaggc caagagcctt ccttcagcct ttctggttat gttacaccta gctgaatgtt
     2161 tacaaggtct ggatccatca gccctcaggc acagttgggc caagcagaaa gagagaaaca
     2221 cttctgctgt caccttgaat gaactcagga atagcttccc tctggactgt agaggagcta
     2281 actgtttgga acagaaaact gctggctgtt gattttgtct ggttcctttg ccaacatctg
     2341 ggcacaccct ttgcccagac acgagtgggg aaagcagttc tttctcctca gtttccaaag
     2401 taaatgggga atcccagctt tcttttctac tagcaaatga ccctaccatt tatttctgcc
     2461 tttttcttcc gttcattgtg aggaaaaata aaactggttg agagctttgt tgtactaa
//
