LOCUS       NM_015978               3019 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens TNNI3 interacting kinase (TNNI3K), mRNA.
ACCESSION   NM_015978
VERSION     NM_015978.3
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 3019)
  AUTHORS   Pham,C., Koopmann,T.T., Vinocur,J.M., Blom,N.A., Nogueira
            Silbiger,V., Mittal,K., Bootsma,M., Palm,K.C.A., Clur,S.B.,
            Barge-Schaapveld,D.Q.C.M., Hamilton,R.M. and Lodder,E.M.
  TITLE     Reduced kinase function in two ultra-rare TNNI3K variants in
            families with congenital junctional ectopic tachycardia
  JOURNAL   Clin Genet 106 (1), 37-46 (2024)
   PUBMED   38424693
  REMARK    GeneRIF: Reduced kinase function in two ultra-rare TNNI3K variants
            in families with congenital junctional ectopic tachycardia.
REFERENCE   2  (bases 1 to 3019)
  AUTHORS   Ramzan,S., Tennstedt,S., Tariq,M., Khan,S., Noor Ul Ayan,H.,
            Ali,A., Munz,M., Thiele,H., Korejo,A.A., Mughal,A.R., Jamal,S.Z.,
            Nurnberg,P., Baig,S.M., Erdmann,J. and Ahmad,I.
  TITLE     A Novel Missense Mutation in TNNI3K Causes Recessively Inherited
            Cardiac Conduction Disease in a Consanguineous Pakistani Family
  JOURNAL   Genes (Basel) 12 (8), 1282 (2021)
   PUBMED   34440456
  REMARK    GeneRIF: A Novel Missense Mutation in TNNI3K Causes Recessively
            Inherited Cardiac Conduction Disease in a Consanguineous Pakistani
            Family.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3019)
  AUTHORS   Touat-Hamici,Z., Blancard,M., Ma,R., Lin,L., Iddir,Y., Denjoy,I.,
            Leenhardt,A., Yuchi,Z. and Guicheney,P.
  TITLE     A SPRY1 domain cardiac ryanodine receptor variant associated with
            short-coupled torsade de pointes
  JOURNAL   Sci Rep 11 (1), 5243 (2021)
   PUBMED   33664309
  REMARK    GeneRIF: A SPRY1 domain cardiac ryanodine receptor variant
            associated with short-coupled torsade de pointes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3019)
  AUTHORS   Liu,J., Liu,D., Li,M., Wu,K., Liu,N., Zhao,C., Shi,X. and Liu,Q.
  TITLE     Identification of a nonsense mutation in TNNI3K associated with
            cardiac conduction disease
  JOURNAL   J Clin Lab Anal 34 (9), e23418 (2020)
   PUBMED   32529721
  REMARK    GeneRIF: Identification of a nonsense mutation in TNNI3K associated
            with cardiac conduction disease.
REFERENCE   5  (bases 1 to 3019)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3019)
  AUTHORS   Lai,Z.F., Chen,Y.Z., Feng,L.P., Meng,X.M., Ding,J.F., Wang,L.Y.,
            Ye,J., Li,P., Cheng,X.S., Kitamoto,Y., Monzen,K., Komuro,I.,
            Sakaguchi,N. and Kim-Mitsuyama,S.
  TITLE     Overexpression of TNNI3K, a cardiac-specific MAP kinase, promotes
            P19CL6-derived cardiac myogenesis and prevents myocardial
            infarction-induced injury
  JOURNAL   Am J Physiol Heart Circ Physiol 295 (2), H708-H716 (2008)
   PUBMED   18552163
  REMARK    GeneRIF: TNNI3K promotes cardiomyogenesis, enhances cardiac
            performance, and protects the myocardium from ischemic injury by
            suppressing p38/JNK-mediated apoptosis.
            Erratum:[Am J Physiol Heart Circ Physiol. 2008 Oct;295(4):H815]
REFERENCE   7  (bases 1 to 3019)
  AUTHORS   Feng,Y., Liu,D.Q., Wang,Z., Liu,Z., Cao,H.Q., Wang,L.Y., Shi,N. and
            Meng,X.M.
  TITLE     AOP-1 interacts with cardiac-specific protein kinase TNNI3K and
            down-regulates its kinase activity
  JOURNAL   Biochemistry (Mosc) 72 (11), 1199-1204 (2007)
   PUBMED   18205602
  REMARK    GeneRIF: coexpression of AOP-1 inhibited TNNI3K kinase activity
REFERENCE   8  (bases 1 to 3019)
  AUTHORS   Feng,Y., Cao,H.Q., Liu,Z., Ding,J.F. and Meng,X.M.
  TITLE     Identification of the dual specificity and the functional domains
            of the cardiac-specific protein kinase TNNI3K
  JOURNAL   Gen Physiol Biophys 26 (2), 104-109 (2007)
   PUBMED   17660584
  REMARK    GeneRIF: TNNI3K exhibits dual-specific kinase activity and forms
            dimers or oligomers that may be necessary for its activation
REFERENCE   9  (bases 1 to 3019)
  AUTHORS   Zhao,Y., Meng,X.M., Wei,Y.J., Zhao,X.W., Liu,D.Q., Cao,H.Q.,
            Liew,C.C. and Ding,J.F.
  TITLE     Cloning and characterization of a novel cardiac-specific kinase
            that interacts specifically with cardiac troponin I
  JOURNAL   J Mol Med (Berl) 81 (5), 297-304 (2003)
   PUBMED   12721663
  REMARK    GeneRIF: cloning of TNNI3K which interacts specifically with
            cardiac troponin I; data suggest that TNNI3K is a cardiac-specific
            kinase and plays important roles in the cardiac system
REFERENCE   10 (bases 1 to 3019)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX502807.1, BC113539.1 and
            AA758546.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015978.2.
            
            Summary: This gene encodes a protein that belongs to the MAP kinase
            kinase kinase (MAPKKK) family of protein kinases. The protein
            contains ankyrin repeat, protein kinase and serine-rich domains and
            is thought to play a role in cardiac physiology. [provided by
            RefSeq, Sep 2012].
            
            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 :: AF116826.1, AY303691.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326637.8/ ENSP00000322251.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                BX502807.1         2-27
            27-2637             BC113539.1         1-2611
            2638-3019           AA758546.1         10-391              c
FEATURES             Location/Qualifiers
     source          1..3019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..3019
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /note="TNNI3 interacting kinase"
                     /db_xref="GeneID:51086"
                     /db_xref="HGNC:HGNC:19661"
                     /db_xref="MIM:613932"
     exon            1..105
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..2573
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /EC_number="2.7.11.1"
                     /note="cardiac ankyrin repeat kinase; cardiac troponin
                     I-interacting kinase"
                     /codon_start=1
                     /product="serine/threonine-protein kinase TNNI3K"
                     /protein_id="NP_057062.1"
                     /db_xref="CCDS:CCDS664.1"
                     /db_xref="GeneID:51086"
                     /db_xref="HGNC:HGNC:19661"
                     /db_xref="MIM:613932"
                     /translation="MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTE
                     LRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGF
                     TALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANV
                     NIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKL
                     LMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHL
                     ACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININ
                     HQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEK
                     GHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRA
                     GLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCR
                     EVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLII
                     AVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQ
                     PGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHI
                     RPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSL
                     SPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEM
                     KRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS"
     exon            106..214
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            215..300
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            301..398
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            399..509
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            510..608
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            609..747
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            748..892
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            893..997
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1092
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1242
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1329
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1386
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1479
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1537
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..1732
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..1837
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..1890
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..1943
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..2076
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2077..2186
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2187..2246
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2247..2416
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..2496
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2497..3019
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2992..2997
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /note="hexamer: ATTAAA"
     polyA_site      3019
                     /gene="TNNI3K"
                     /gene_synonym="CARK; CCDD"
                     /note="major polyA site"
ORIGIN      
        1 gcacttgaac ttggaatctt ataacttgaa gaactgccct ggagaaagga agaaacttat
       61 aataaatggg aaattataaa tctagaccaa cccaaacttg tactgatgaa tggaagaaaa
      121 aagtcagtga atcatatgtt atcacaatag aaagattaga agatgacctg cagatcaagg
      181 aaaaagaact gacagaacta aggaatatat ttggctctga tgaagccttc agtaaagtca
      241 atttaaatta ccgcactgaa aatgggctgt ctctacttca tttatgttgc atttgtggag
      301 gcaagaaatc acatattcga actcttatgt tgaaagggct ccgcccatct cgactgacaa
      361 gaaatggatt tacagccttg catttagcag tttacaagga taatgcagaa ttgatcactt
      421 ctctgcttca cagtggagct gatatacagc aggttggata cggtggcctc actgccctcc
      481 atattgctac aatagctggc cacctagagg ctgctgatgt gctgttgcaa catggagcta
      541 atgtcaatat tcaagatgca gtttttttca ctccattgca tattgcagcg tactatggac
      601 atgaacaggt aactcgcctt cttttgaaat ttggtgctga tgtaaatgta agtggtgaag
      661 ttggagatag acccctccac ctagcatctg caaaaggatt cttgaatatt gcaaaactct
      721 tgatggaaga aggcagcaaa gcagatgtga atgctcaaga taatgaagac catgtcccac
      781 tccatttctg ttctcgattt ggacaccatg atatagttaa gtatctgctg caaagtgatt
      841 tggaagttca acctcatgtt gttaatatct atggagatac ccccttacac ctggcatgct
      901 acaatggcaa atttgaagtt gccaaggaaa tcatccaaat atcaggaaca gaaagtctga
      961 ctaaggaaaa catcttcagt gaaacagctt ttcatagtgc ttgtacctat ggcaagagca
     1021 ttgacctagt caaatttctt cttgatcaga atgtcataaa catcaaccac caaggaaggg
     1081 atgggcacac tggattacac tctgcttgct accacggtca cattcgcctg gttcagttct
     1141 tactggataa tggagctgat atgaatctag tggcttgtga tcccagcagg tctagtggtg
     1201 aaaaagatga gcagacatgt ttgatgtggg cttatgaaaa agggcatgat gccattgtca
     1261 cactcctgaa gcattataag agaccacaag atgaattgcc ctgtaatgaa tattctcagc
     1321 ctggaggaga tggctcctat gtgtctgttc catcaccctt ggggaagatt aaaagcatga
     1381 caaaagagaa ggcagatatt ctcctcctaa gagctggatt gccttcacat ttccatcttc
     1441 agctctcaga aattgagttc catgagatta ttggctcagg ttcttttggg aaagtatata
     1501 aaggacgatg cagaaataaa atagtggcta taaaacgtta tcgagccaat acctactgct
     1561 ccaagtcaga tgtggatatg ttttgccgag aggtgtccat tctctgccag ctcaatcatc
     1621 cctgcgtaat tcagtttgtg ggtgcttgct tgaatgatcc cagccagttt gccattgtca
     1681 ctcaatacat atcagggggt tctctgttct ccctccttca tgagcagaag aggattcttg
     1741 atttgcagtc taaattaatt attgcagtag atgttgccaa aggcatggag taccttcaca
     1801 acctgacaca gccaattata catcgtgact tgaacagtca caatattctt ctctatgagg
     1861 atgggcatgc tgtggtggca gattttggag aatcaagatt tctacagtct ctggatgaag
     1921 acaacatgac aaaacaacct gggaacctcc gttggatggc tcctgaggtg ttcacgcagt
     1981 gcactcggta caccatcaaa gcagatgtct tcagctatgc tctgtgtctg tgggaaattc
     2041 tcactggcga aattccattc gctcatctca agccagcggc tgcggcagca gacatggctt
     2101 accaccacat cagacctccc attggctatt ccattcccaa gcccatatca tctctgctga
     2161 tacgagggtg gaacgcatgt cctgaaggaa gacccgaatt ttctgaagtt gtcatgaagt
     2221 tagaagagtg tctctgcaac attgagctga tgtctcctgc atcaagtaac agcagtgggt
     2281 ctctctcacc ttcttcttct tctgattgcc tggtgaaccg gggaggacct ggccggagtc
     2341 atgtggcagc attaagaagt cgtttcgaat tggaatatgc tctaaatgca aggtcctatg
     2401 ctgctttgtc ccaaagtgct ggacaatatt cctctcaagg tctgtctttg gaggagatga
     2461 aaagaagtct tcaatacaca cccattgaca aatatggcta tgtatccgat cccatgagct
     2521 caatgcattt tcattcttgc cgaaatagta gcagctttga ggacagcagc tgacagcatt
     2581 cggcgtatac ctaaggagag ttttttcccc gaactgacag caacgattcc aaccacggca
     2641 agctggcttc caactataac attttactct caaaggtctc cttaaattgg gcttgttttt
     2701 acttgtccta tttaattccc cactattagc aggctttgga tttgtgccta aggaataata
     2761 tgcaaaagaa ccaagacaga atgtatatga agaattgttt ttaattttgt aaattaaaaa
     2821 aaaatttaga tcgttacttg gaaatggagc ctaagtctgt ggtggacaga taataattat
     2881 gttttcctgg gctgaattat gtagacttgt gtttgacagc tatgggttta tttcttagaa
     2941 cattgttcat tttcttttct cattatgtta cttctagtgt tcacctctgt gattaaagat
     3001 tctttggtga aatagaaaa
//
