LOCUS       NM_133727               1665 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus kaptin (Kptn), mRNA.
ACCESSION   NM_133727
VERSION     NM_133727.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1665)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1665)
  AUTHORS   Levitin,M.O., Rawlins,L.E., Sanchez-Andrade,G., Arshad,O.A.,
            Collins,S.C., Sawiak,S.J., Iffland,P.H. 2nd, Andersson,M.H.L.,
            Bupp,C., Cambridge,E.L., Coomber,E.L., Ellis,I., Herkert,J.C.,
            Ironfield,H., Jory,L., Kretz,P.F., Kant,S.G., Neaverson,A.,
            Nibbeling,E., Rowley,C., Relton,E., Sanderson,M., Scott,E.M.,
            Stewart,H., Shuen,A.Y., Schreiber,J., Tuck,L., Tonks,J.,
            Terkelsen,T., van Ravenswaaij-Arts,C., Vasudevan,P., Wenger,O.,
            Wright,M., Day,A., Hunter,A., Patel,M., Lelliott,C.J., Crino,P.B.,
            Yalcin,B., Crosby,A.H., Baple,E.L., Logan,D.W., Hurles,M.E. and
            Gerety,S.S.
  TITLE     Models of KPTN-related disorder implicate mTOR signalling in
            cognitive and overgrowth phenotypes
  JOURNAL   Brain 146 (11), 4766-4783 (2023)
   PUBMED   37437211
REFERENCE   3  (bases 1 to 1665)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1665)
  AUTHORS   White,J.K., Gerdin,A.K., Karp,N.A., Ryder,E., Buljan,M.,
            Bussell,J.N., Salisbury,J., Clare,S., Ingham,N.J., Podrini,C.,
            Houghton,R., Estabel,J., Bottomley,J.R., Melvin,D.G., Sunter,D.,
            Adams,N.C., Tannahill,D., Logan,D.W., Macarthur,D.G., Flint,J.,
            Mahajan,V.B., Tsang,S.H., Smyth,I., Watt,F.M., Skarnes,W.C.,
            Dougan,G., Adams,D.J., Ramirez-Solis,R., Bradley,A. and Steel,K.P.
  CONSRTM   Sanger Institute Mouse Genetics Project
  TITLE     Genome-wide generation and systematic phenotyping of knockout mice
            reveals new roles for many genes
  JOURNAL   Cell 154 (2), 452-464 (2013)
   PUBMED   23870131
REFERENCE   5  (bases 1 to 1665)
  AUTHORS   Hong,H.K., Chakravarti,A. and Takahashi,J.S.
  TITLE     The gene for soluble N-ethylmaleimide sensitive factor attachment
            protein alpha is mutated in hydrocephaly with hop gait (hyh) mice
  JOURNAL   Proc Natl Acad Sci U S A 101 (6), 1748-1753 (2004)
   PUBMED   14755058
REFERENCE   6  (bases 1 to 1665)
  AUTHORS   Chae,T.H., Allen,K.M., Davisson,M.T., Sweet,H.O. and Walsh,C.A.
  TITLE     Mapping of the mouse hyh gene to a YAC/BAC contig on proximal
            Chromosome 7
  JOURNAL   Mamm Genome 13 (5), 239-244 (2002)
   PUBMED   12016511
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY269246.1, AK009746.1, BU953076.1 and BE993711.1.
            
            On Apr 30, 2009 this sequence version replaced NM_133727.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018316.1, AK009746.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               BY269246.1         2-144
            144-1123            AK009746.1         125-1104
            1124-1646           BU953076.1         37-559
            1647-1665           BE993711.1         1-19                c
FEATURES             Location/Qualifiers
     source          1..1665
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 8.75 cM"
     gene            1..1665
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /note="kaptin"
                     /db_xref="GeneID:70394"
                     /db_xref="MGI:MGI:1890380"
     exon            1..306
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1376
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /note="actin-binding protein"
                     /codon_start=1
                     /product="KICSTOR complex protein kaptin"
                     /protein_id="NP_598488.2"
                     /db_xref="CCDS:CCDS20844.1"
                     /db_xref="GeneID:70394"
                     /db_xref="MGI:MGI:1890380"
                     /translation="MGEAAVAEGPCPLLEDSFTRFSSQSNVYGLAGGADGRGELLAAT
                     LKGKVLGFRYQDLRQKIRPVAKELQFNYIPVDAEIVSIDTFNKSPPKRGLVVGITFIK
                     DSGDKGSPFLNIYCDYEPGSEYNLDSIAESCLNLELQFTPFQLCHAEVQVGDQLETVF
                     LLSGNDPAIHLYKENEGLHQFEEQPVENLFPELTNLTSSVLWLDVHNLPGSSQRLSAL
                     GCQSGYVRVAHVDQKNQEILQTWTIQQDGPISRVIVFSLSASEATQDSPQQEGYSLLV
                     ASMLEPAVVYWDLLNKGLDDQLLLPGSDQFDSVLCGLVTDVDLDGQPEVLVATYGQEL
                     LCYKYRGLPEDSRGFRLLWRRSFASPLLAMAHVDLTGDGLRELAVISLKGVHILQHSL
                     IQASELVLTRLRHQVEQRKHQQGLGDRVGPRPVEHPAS"
     exon            307..389
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            390..474
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            475..529
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            530..605
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            606..679
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            680..789
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            790..867
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            868..943
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1079
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1250
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1649
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1625..1630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /note="hexamer: AACAAA"
     polyA_site      1649
                     /gene="Kptn"
                     /gene_synonym="2310042D10Rik; 2E4; C030013F01Rik"
                     /note="major polyA site"
ORIGIN      
        1 gacgtcatca gtatgcgcta gtggaggttt cctgacaggt tggggagcat caggccatct
       61 gggaccgatc gcggagggcc aggatggggg aggcggccgt ggcagaggga ccttgtccac
      121 tgctggagga cagcttcacg cgcttctcgt cgcaaagcaa cgtgtacggg cttgctggag
      181 gcgcggacgg gcgaggggag ttgctggccg ccactcttaa aggcaaggtg ctcggcttcc
      241 gctatcaaga cctccgacag aaaatccggc ctgtggctaa agagctgcaa ttcaactaca
      301 ttcccgtgga tgctgagatc gtctccatcg acactttcaa caagtcaccc ccaaaacggg
      361 gcctggttgt gggcatcact tttataaagg actcaggaga caagggcagt ccgtttctta
      421 acatttactg tgactatgag cctggctcag agtacaacct ggactctatt gcagagagct
      481 gcctgaattt ggaactccag ttcacacctt tccagctgtg ccacgcagaa gtccaggttg
      541 gggaccagct ggagacggtg tttctgctga gtgggaacga tccagctatt catctctaca
      601 aggagaatga gggactacat cagtttgagg agcagcccgt ggaaaacctc tttccagagc
      661 tcacgaacct gaccagtagt gtcctttggc ttgatgtcca caacctccct ggctcatccc
      721 agcggctctc ggctctcggc tgccagagtg gttatgtgcg tgtggctcac gtggaccaga
      781 agaatcaaga gatcttgcag acatggacaa tccagcagga tgggcccatc tcccgagtga
      841 ttgtgttcag cctgtcagcc tcggaggcaa cacaggacag cccccagcag gaaggataca
      901 gtctgcttgt ggccagcatg ctggagccag ctgtggtgta ctgggatctt ctgaacaagg
      961 gtctggatga ccaacttctc ctgcctggca gtgaccagtt tgacagcgtc ctctgtggcc
     1021 tggtcactga cgtggaccta gatggacaac cggaagtcct ggtggccacc tatggacagg
     1081 agctgctctg ctataagtat cgtggactgc cagaggacag cagaggcttc cgcctgctgt
     1141 ggcgcaggag cttcgccagc cccctgctgg ccatggccca tgtggacctg actggagatg
     1201 gcctgcggga gctggccgtg atatccctga aaggggtgca catcctccag cacagcctga
     1261 tccaggcctc tgaactggtc ttgacacggc ttcgtcatca agtggagcag aggaaacatc
     1321 agcagggcct tggggacaga gttgggccca ggcctgtgga acacccagcc tcctgagcac
     1381 tccatcttct caggtgtggg cacctcgtat ctatcattgt tgatggggag cgaagcatct
     1441 tagaagagga gtgtgcccct tggactccct cagaagggga attctaagag tccctgaccc
     1501 accctggtgt gctgtgtgac cctagctgat aactcctgtc tgagccattt gaaaagggat
     1561 gttctcagcc aacctctgct cccatcaggt gttggtccct gaggaccatt tacacattca
     1621 gagcaacaaa gctgtcctgg ctgtcttaaa aaaaaaaaaa aaaaa
//
