LOCUS       NM_006471                958 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens myosin light chain 12A (MYL12A), transcript variant 1,
            mRNA.
ACCESSION   NM_006471
VERSION     NM_006471.4
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 958)
  AUTHORS   Frobel,J., Cadeddu,R.P., Hartwig,S., Bruns,I., Wilk,C.M.,
            Kundgen,A., Fischer,J.C., Schroeder,T., Steidl,U.G., Germing,U.,
            Lehr,S., Haas,R. and Czibere,A.
  TITLE     Platelet proteome analysis reveals integrin-dependent aggregation
            defects in patients with myelodysplastic syndromes
  JOURNAL   Mol Cell Proteomics 12 (5), 1272-1280 (2013)
   PUBMED   23382103
REFERENCE   2  (bases 1 to 958)
  AUTHORS   Hopker,K., Hagmann,H., Khurshid,S., Chen,S., Hasskamp,P.,
            Seeger-Nukpezah,T., Schilberg,K., Heukamp,L., Lamkemeyer,T.,
            Sos,M.L., Thomas,R.K., Lowery,D., Roels,F., Fischer,M.,
            Liebau,M.C., Resch,U., Kisner,T., Rother,F., Bartram,M.P.,
            Muller,R.U., Fabretti,F., Kurschat,P., Schumacher,B., Gaestel,M.,
            Medema,R.H., Yaffe,M.B., Schermer,B., Reinhardt,H.C. and Benzing,T.
  TITLE     AATF/Che-1 acts as a phosphorylation-dependent molecular modulator
            to repress p53-driven apoptosis
  JOURNAL   EMBO J 31 (20), 3961-3975 (2012)
   PUBMED   22909821
REFERENCE   3  (bases 1 to 958)
  AUTHORS   Tan,I., Lai,J., Yong,J., Li,S.F. and Leung,T.
  TITLE     Chelerythrine perturbs lamellar actomyosin filaments by selective
            inhibition of myotonic dystrophy kinase-related Cdc42-binding
            kinase
  JOURNAL   FEBS Lett 585 (9), 1260-1268 (2011)
   PUBMED   21457715
REFERENCE   4  (bases 1 to 958)
  AUTHORS   Buschow,S.I., van Balkom,B.W., Aalberts,M., Heck,A.J., Wauben,M.
            and Stoorvogel,W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   5  (bases 1 to 958)
  AUTHORS   Bouwmeester,T., Bauch,A., Ruffner,H., Angrand,P.O., Bergamini,G.,
            Croughton,K., Cruciat,C., Eberhard,D., Gagneur,J., Ghidelli,S.,
            Hopf,C., Huhse,B., Mangano,R., Michon,A.M., Schirle,M., Schlegl,J.,
            Schwab,M., Stein,M.A., Bauer,A., Casari,G., Drewes,G., Gavin,A.C.,
            Jackson,D.B., Joberty,G., Neubauer,G., Rick,J., Kuster,B. and
            Superti-Furga,G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
REFERENCE   6  (bases 1 to 958)
  AUTHORS   Iwasaki,T., Murata-Hori,M., Ishitobi,S. and Hosoya,H.
  TITLE     Diphosphorylated MRLC is required for organization of stress fibers
            in interphase cells and the contractile ring in dividing cells
  JOURNAL   Cell Struct Funct 26 (6), 677-683 (2001)
   PUBMED   11942626
REFERENCE   7  (bases 1 to 958)
  AUTHORS   Grant,J.W., Zhong,R.Q., McEwen,P.M. and Church,S.L.
  TITLE     Human nonsarcomeric 20,000 Da myosin regulatory light chain cDNA
  JOURNAL   Nucleic Acids Res 18 (19), 5892 (1990)
   PUBMED   2216787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC031972.1 and BC032748.1.
            
            On Feb 27, 2020 this sequence version replaced NM_006471.3.
            
            Summary: This gene encodes a nonsarcomeric myosin regulatory light
            chain. This protein is activated by phosphorylation and regulates
            smooth muscle and non-muscle cell contraction. This protein may
            also be involved in DNA damage repair by sequestering the
            transcriptional regulator apoptosis-antagonizing transcription
            factor (AATF)/Che-1 which functions as a repressor of p53-driven
            apoptosis. Alternate splicing results in multiple transcript
            variants. A pseudogene of this gene is found on chromosome
            8.[provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1). Variants 1, 2 and 3 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU794621.1, BC031972.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217652.8/ ENSP00000217652.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                BC031972.1         272-340
            70-958              BC032748.1         12-900
FEATURES             Location/Qualifiers
     source          1..958
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     gene            1..958
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /note="myosin light chain 12A"
                     /db_xref="GeneID:10627"
                     /db_xref="HGNC:HGNC:16701"
     exon            1..109
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            110..305
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..640
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myosin regulatory light chain 3; epididymis secretory
                     protein Li 24; myosin regulatory light chain MRLC3; myosin
                     regulatory light chain 12A; myosin, light polypeptide,
                     regulatory, non-sarcomeric (20kD); myosin RLC; myosin
                     regulatory light chain 2, nonsarcomeric; myosin, light
                     chain 12A, regulatory, non-sarcomeric"
                     /codon_start=1
                     /product="myosin regulatory light chain 12A isoform 1"
                     /protein_id="NP_006462.1"
                     /db_xref="CCDS:CCDS11830.1"
                     /db_xref="GeneID:10627"
                     /db_xref="HGNC:HGNC:16701"
                     /translation="MSSKRTKTKTKKRPQRATSNVFAMFDQSQIQEFKEAFNMIDQNR
                     DGFIDKEDLHDMLASLGKNPTDEYLDAMMNEAPGPINFTMFLTMFGEKLNGTDPEDVI
                     RNAFACFDEEATGTIQEDYLRELLTTMGDRFTDEEVDELYREAPIDKKGNFNYIEFTR
                     ILKHGAKDKDD"
     exon            306..467
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            468..958
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      938..943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /note="hexamer: ATTAAA"
     polyA_site      958
                     /gene="MYL12A"
                     /gene_synonym="HEL-S-24; MLC-2B; MLCB; MRCL3; MRLC3;
                     MYL2B"
                     /note="major polyA site"
ORIGIN      
        1 aagcagaggc cggaagcggt ggtttttagc ggctctctgg gtagcagggt ggtgtgatag
       61 cggcagcgag gggctcggag aggtgctcgg attctcgtag ctgtgccggg acttaaccac
      121 caccatgtcg agcaaaagaa caaagaccaa gaccaagaag cgccctcagc gtgcaacatc
      181 caatgtgttt gctatgtttg accagtcaca gattcaggag ttcaaagagg ccttcaacat
      241 gattgatcag aacagagatg gtttcatcga caaggaagat ttgcatgata tgcttgcttc
      301 attggggaag aatccaactg atgagtatct agatgccatg atgaatgagg ctccaggccc
      361 catcaatttc accatgttcc tcaccatgtt tggtgagaag ttaaatggca cagatcctga
      421 agatgtcatc agaaatgcct ttgcttgctt tgatgaagaa gcaactggca ccatacagga
      481 agattacttg agagagctgc tgacaaccat gggggatcgg tttacagatg aggaagtgga
      541 tgagctgtac agagaagcac ctattgataa aaaggggaat ttcaattaca tcgagttcac
      601 acgcatcctg aaacatggag ccaaagacaa agatgactga aataacttca aattccagcc
      661 aaacgttcct tgttgccact ttgggtattc tgagattttc tcttgcatgc ccttagcttt
      721 acagcttttg catttcctgt tgtatttatt ctcagccatt ttgggcatat gtatctttat
      781 aatcagactg gaaacgggac tttctattaa tatcattttc agaataaaaa ataggataat
      841 ttaacctacc agcccttctc ccccaataac tgtggtctat acagagtcaa tatatttttt
      901 cagagaaagt tattcgctcg attttttctg aatcataatt aaactttatg ataaaata
//
