LOCUS       NM_033118               2799 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.
ACCESSION   NM_033118
VERSION     NM_033118.4
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 2799)
  AUTHORS   Segal,D., Maier,S., Mastromarco,G.J., Qian,W.W., Nabeel-Shah,S.,
            Lee,H., Moore,G., Lacoste,J., Larsen,B., Lin,Z.Y.,
            Selvabaskaran,A., Liu,K., Smibert,C., Zhang,Z., Greenblatt,J.,
            Peng,J., Lee,H.O., Gingras,A.C. and Taipale,M.
  TITLE     A central chaperone-like role for 14-3-3 proteins in human cells
  JOURNAL   Mol Cell 83 (6), 974-993 (2023)
   PUBMED   36931259
REFERENCE   2  (bases 1 to 2799)
  AUTHORS   Huang,Y.J., Lee,T.C., Pai,Y.C., Lin,B.R., Turner,J.R. and Yu,L.C.
  TITLE     A novel tumor suppressor role of myosin light chain kinase splice
            variants through downregulation of the TEAD4/CD44 axis
  JOURNAL   Carcinogenesis 42 (7), 961-974 (2021)
   PUBMED   34000008
  REMARK    GeneRIF: A novel tumor suppressor role of myosin light chain kinase
            splice variants through downregulation of the TEAD4/CD44 axis.
REFERENCE   3  (bases 1 to 2799)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2799)
  AUTHORS   Qin,X., Li,P., Qu,H.Q., Liu,Y., Xia,Y., Chen,S., Yang,Y., Huang,S.,
            Wen,P., Zhou,X., Li,X., Wang,Y., Tian,L., Hakonarson,H., Wu,Y. and
            Zhuang,J.
  TITLE     FLNC and MYLK2 Gene Mutations in a Chinese Family with Different
            Phenotypes of Cardiomyopathy
  JOURNAL   Int Heart J 62 (1), 127-134 (2021)
   PUBMED   33455984
  REMARK    GeneRIF: FLNC and MYLK2 Gene Mutations in a Chinese Family with
            Different Phenotypes of Cardiomyopathy.
REFERENCE   5  (bases 1 to 2799)
  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   6  (bases 1 to 2799)
  AUTHORS   Davis,J.S., Hassanzadeh,S., Winitsky,S., Lin,H., Satorius,C.,
            Vemuri,R., Aletras,A.H., Wen,H. and Epstein,N.D.
  TITLE     The overall pattern of cardiac contraction depends on a spatial
            gradient of myosin regulatory light chain phosphorylation
  JOURNAL   Cell 107 (5), 631-641 (2001)
   PUBMED   11733062
REFERENCE   7  (bases 1 to 2799)
  AUTHORS   Lazar,V. and Garcia,J.G.
  TITLE     A single human myosin light chain kinase gene (MLCK; MYLK)
  JOURNAL   Genomics 57 (2), 256-267 (1999)
   PUBMED   10198165
REFERENCE   8  (bases 1 to 2799)
  AUTHORS   Gallagher,P.J., Herring,B.P. and Stull,J.T.
  TITLE     Myosin light chain kinases
  JOURNAL   J Muscle Res Cell Motil 18 (1), 1-16 (1997)
   PUBMED   9147985
  REMARK    Review article
REFERENCE   9  (bases 1 to 2799)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   10 (bases 1 to 2799)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160175.5 and BC092413.1.
            
            On Aug 31, 2019 this sequence version replaced NM_033118.3.
            
            Summary: This gene encodes a myosin light chain kinase, a
            calcium/calmodulin dependent enzyme, that is exclusively expressed
            in adult skeletal muscle. [provided by RefSeq, Jul 2008].
            
            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 :: BC092413.1, AJ272502.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153347, SAMEA2158800
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375985.5/ ENSP00000365152.4
            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
            1-19                AL160175.5         114142-114160
            20-2799             BC092413.1         1-2780
FEATURES             Location/Qualifiers
     source          1..2799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..2799
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /note="myosin light chain kinase 2"
                     /db_xref="GeneID:85366"
                     /db_xref="HGNC:HGNC:16243"
                     /db_xref="MIM:606566"
     exon            1..73
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            74..173
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..1912
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /EC_number="2.7.11.18"
                     /note="myosin light chain kinase 2, skeletal muscle"
                     /codon_start=1
                     /product="myosin light chain kinase 2, skeletal/cardiac
                     muscle"
                     /protein_id="NP_149109.1"
                     /db_xref="CCDS:CCDS13191.1"
                     /db_xref="GeneID:85366"
                     /db_xref="HGNC:HGNC:16243"
                     /db_xref="MIM:606566"
                     /translation="MATENGAVELGIQNPSTDKAPKGPTGERPLAAGKDPGPPDPKKA
                     PDPPTLKKDAKAPASEKGDGTLAQPSTSSQGPKGEGDRGGGPAEGSAGPPAALPQQTA
                     TPETSVKKPKAEQGASGSQDPGKPRVGKKAAEGQAAARRGSPAFLHSPSCPAIISSSE
                     KLLAKKPPSEASELTFEGVPMTHSPTDPRPAKAEEGKNILAESQKEVGEKTPGQAGQA
                     KMQGDTSRGIEFQAVPSEKSEVGQALCLTAREEDCFQILDDCPPPPAPFPHRMVELRT
                     GNVSSEFSMNSKEALGGGKFGAVCTCMEKATGLKLAAKVIKKQTPKDKEMVLLEIEVM
                     NQLNHRNLIQLYAAIETPHEIVLFMEYIEGGELFERIVDEDYHLTEVDTMVFVRQICD
                     GILFMHKMRVLHLDLKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLS
                     PEVVNYDQISDKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEA
                     VSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRCNRRLKSQILLKKYLMK
                     RRWKKNFIAVSAANRFKKISSSGALMALGV"
     exon            174..594
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            595..893
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            894..999
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1093
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1203
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1345
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1416
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1545
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1698
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1831
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1832..2799
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2781..2786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /note="hexamer: AATAAA"
     polyA_site      2799
                     /gene="MYLK2"
                     /gene_synonym="KMLC; MLCK; MLCK2; skMLCK"
                     /note="major polyA site"
ORIGIN      
        1 acaactgccc aggactgctc ctgagcagcc gctgggagac agacggcaac caggttgccc
       61 ctctttgctc cagctagaaa gacttgagtt agacaagcag cagcacacgc ctccctacct
      121 catggcgaca gaaaatggag cagttgagct gggaattcag aacccatcaa cagacaaggc
      181 acctaaaggt cccacaggtg aaagacccct ggctgcaggg aaagaccctg gccccccaga
      241 cccaaagaaa gctccggatc cacccaccct gaagaaagat gccaaagccc ctgcctcaga
      301 gaaaggggat ggtaccctgg cccaaccctc aactagcagc caaggcccca aaggagaggg
      361 tgacaggggc ggggggcccg cggagggcag tgctgggccc ccggcagccc tgccccagca
      421 gactgcgaca cctgagacca gcgtcaagaa gcccaaggct gagcagggag cctcaggcag
      481 ccaggatcct ggaaagccca gggtgggcaa gaaggcagca gagggccaag cagcagccag
      541 gaggggctca cctgcctttc tgcatagccc cagctgtcct gccatcatct ccagttctga
      601 gaagctgctg gccaagaagc ccccaagcga ggcatcagag ctcacctttg aaggggtgcc
      661 catgacccac agccccacgg atcccaggcc agccaaggca gaagaaggaa agaacatcct
      721 ggcagagagc cagaaggaag tgggagagaa aaccccaggc caggctggcc aggctaagat
      781 gcaaggggac acctcgaggg ggattgagtt ccaggctgtt ccctcagaga aatccgaggt
      841 ggggcaggcc ctctgtctca cagccaggga ggaggactgc ttccagattt tggatgattg
      901 cccgccacct ccggccccct tccctcaccg catggtggag ctgaggaccg ggaatgtcag
      961 cagtgaattc agtatgaact ccaaggaggc gctcggaggt ggcaagtttg gggcagtctg
     1021 tacctgcatg gagaaagcca caggcctcaa gctggcagcc aaggtcatca agaaacagac
     1081 tcccaaagac aaggaaatgg tgttgctgga gattgaggtc atgaaccagc tgaaccaccg
     1141 caatctgatc cagctgtatg cagccatcga gactccgcat gagatcgtcc tgttcatgga
     1201 gtacatcgag ggcggagagc tcttcgagag gattgtggat gaggactacc atctgaccga
     1261 ggtggacacc atggtgtttg tcaggcagat ctgtgacggg atcctcttca tgcacaagat
     1321 gagggttttg cacctggacc tcaagccaga gaacatcctg tgtgtcaaca ccaccgggca
     1381 tttggtgaag atcattgact ttggcctggc acggaggtat aaccccaacg agaagctgaa
     1441 ggtgaacttt gggaccccag agttcctgtc acctgaggtg gtgaattatg accaaatctc
     1501 cgataagaca gacatgtgga gtatgggggt gatcacctac atgctgctga gcggcctctc
     1561 ccccttcctg ggagatgatg acacagagac cctaaacaac gttctatctg gcaactggta
     1621 ctttgatgaa gagacctttg aggccgtatc agacgaggcc aaagactttg tctccaacct
     1681 catcgtcaag gaccagaggg cccggatgaa cgctgcccag tgtctcgccc atccctggct
     1741 caacaacctg gcggagaaag ccaaacgctg taaccgacgc cttaagtccc agatcttgct
     1801 taagaaatac ctcatgaaga ggcgctggaa gaaaaacttc attgctgtca gcgctgccaa
     1861 ccgcttcaag aagatcagca gctcgggggc actgatggct ctgggggtct gagccctggg
     1921 cgcagctgaa gcctggacgc agccacacag tggccggggc tgaagccaca cagcccagaa
     1981 ggccagaaaa ggcagccaga tccccagggc agcctcgtta ggacaaggct gtgccaggct
     2041 gggaggctcg gggctcccca cgcccccatg cagtgaccgc ttccccgatg tgagccgcct
     2101 cggagtgtgg cctggatcca tcctgctagc acctccccag acagggctcc agcctgtcgg
     2161 ccacacccca gactccaggc ccccgttgaa gccgctcccg gttccctccc cagctcctcg
     2221 tctttgaact gccgccgccg tggtgacccc tgctttgccc cactgggaga gtccttagcc
     2281 tgggcctcct cctagctgga gtgccatggc tggggggtct cagcatgtag ggcttctgtg
     2341 gttgtggatg ggaggctcct ggtggggcag aaaggctgca acgctgattc ctaaggccca
     2401 gctgccaggg aagacagagc aggctttgtg agagaggacc tccatgcccc cgccacctcc
     2461 ccactccagc agataaggcc gagcccacac catctggccc aggctggccc ccacccacct
     2521 tccttgcgac caccaacaca caggaactct gtgtgagaga gagggcgccc agcccaggcc
     2581 tggtggaggg ggaggggaga agccaaggga cacaggagac cacccccgag cttgcctcag
     2641 ggccaagccg gcccaaccca accactcggg gcccccatct tgggggtcac ccatggcctc
     2701 agatgatggg gtcagcaggc ccaggagaat taggaaggcc atggggcagc ctccagtctg
     2761 ctctcagctt gtgccttgta aataaatgta caggttgga
//
