LOCUS       NM_013292                657 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens myosin light chain 11 (MYL11), transcript variant 1,
            mRNA.
ACCESSION   NM_013292
VERSION     NM_013292.5
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 657)
  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   2  (bases 1 to 657)
  AUTHORS   Chong,J.X., Talbot,J.C., Teets,E.M., Previs,S., Martin,B.L.,
            Shively,K.M., Marvin,C.T., Aylsworth,A.S., Saadeh-Haddad,R.,
            Schatz,U.A., Inzana,F., Ben-Omran,T., Almusafri,F., Al-Mulla,M.,
            Buckingham,K.J., Harel,T., Mor-Shaked,H., Radhakrishnan,P.,
            Girisha,K.M., Nayak,S.S., Shukla,A., Dieterich,K., Faure,J.,
            Rendu,J., Capri,Y., Latypova,X., Nickerson,D.A., Warshaw,D.M.,
            Janssen,P.M.L., Amacher,S.L. and Bamshad,M.J.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Mutations in MYLPF Cause a Novel Segmental Amyoplasia that
            Manifests as Distal Arthrogryposis
  JOURNAL   Am J Hum Genet 107 (2), 293-310 (2020)
   PUBMED   32707087
  REMARK    GeneRIF: Mutations in MYLPF Cause a Novel Segmental Amyoplasia that
            Manifests as Distal Arthrogryposis.
REFERENCE   3  (bases 1 to 657)
  AUTHORS   Kondo,T., Okada,M., Kunihiro,K., Takahashi,M., Yaoita,Y., Hosoya,H.
            and Hamao,K.
  TITLE     Characterization of myosin II regulatory light chain isoforms in
            HeLa cells
  JOURNAL   Cytoskeleton (Hoboken) 72 (12), 609-620 (2015)
   PUBMED   26663899
REFERENCE   4  (bases 1 to 657)
  AUTHORS   Sachdev,S., Raychowdhury,M.K. and Sarkar,S.
  TITLE     Human fast skeletal myosin light chain 2 cDNA: isolation, tissue
            specific expression of the single copy gene, comparative sequence
            analysis of isoforms and evolutionary relationships
  JOURNAL   DNA Seq 14 (5), 339-350 (2003)
   PUBMED   14756420
  REMARK    GeneRIF: A cDNA clone encoding human fast skeletal myosin
            regulatory light chain (HSRLC) has been isolated and characterized
            from a fetal muscle cDNA library.
REFERENCE   5  (bases 1 to 657)
  AUTHORS   Nudel,U., Calvo,J.M., Shani,M. and Levy,Z.
  TITLE     The nucleotide sequence of a rat myosin light chain 2 gene
  JOURNAL   Nucleic Acids Res 12 (18), 7175-7186 (1984)
   PUBMED   6091059
REFERENCE   6  (bases 1 to 657)
  AUTHORS   Garfinkel,L.I., Periasamy,M. and Nadal-Ginard,B.
  TITLE     Cloning and characterization of cDNA sequences corresponding to
            myosin light chains 1, 2, and 3, troponin-C, troponin-T,
            alpha-tropomyosin, and alpha-actin
  JOURNAL   J Biol Chem 257 (18), 11078-11086 (1982)
   PUBMED   6179945
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314082.1 and AA662706.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_013292.4.
            
            Transcript Variant: This variant (1) is the predominant variant.
            Variants 1, 2, and 3 all encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138525.680494.1, BF693409.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322861.12/ ENSP00000325239.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-566               AK314082.1         26-591
            567-657             AA662706.1         29-119              c
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..657
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /note="myosin light chain 11"
                     /db_xref="GeneID:29895"
                     /db_xref="HGNC:HGNC:29824"
                     /db_xref="MIM:617378"
     exon            1..59
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..566
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /note="myosin, light chain 11, regulatory; fast skeletal
                     myosin light chain 2; myosin light chain,
                     phosphorylatable, fast skeletal muscle"
                     /codon_start=1
                     /product="myosin regulatory light chain 11"
                     /protein_id="NP_037424.2"
                     /db_xref="CCDS:CCDS10677.1"
                     /db_xref="GeneID:29895"
                     /db_xref="HGNC:HGNC:29824"
                     /db_xref="MIM:617378"
                     /translation="MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGI
                     IDKEDLRDTFAAMGRLNVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITG
                     AFKVLDPEGKGTIKKKFLEELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVI
                     THGDAKDQE"
     exon            60..152
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            153..228
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            229..333
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            334..412
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            413..461
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            462..657
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      629..634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /note="hexamer: AATAAA"
     polyA_site      657
                     /gene="MYL11"
                     /gene_synonym="DA1C; HUMMLC2B; MLC2B; MRLC2; MYLPF"
                     /note="major polyA site"
ORIGIN      
        1 gactccttgc ttctttccag ccggagccgc tgccttgccc cccggagact gaagacatgg
       61 cacccaagag ggccaagaga aggacagtag agggcggaag ctccagcgtc ttctccatgt
      121 tcgaccagac tcagatccag gagttcaaag aggccttcac tgtgatcgac cagaaccgtg
      181 atggtattat agacaaggag gaccttcggg acaccttcgc agccatgggc cgcctcaatg
      241 tgaagaatga ggagttggat gccatgatga aggaagccag cggtcccatc aacttcaccg
      301 tcttcctgac catgttcggg gagaagctca agggtgccga ccctgaggat gtgatcaccg
      361 gagccttcaa ggtcttggac cctgagggaa agggcaccat caagaagaag ttcctggagg
      421 agctgctgac cacgcagtgt gaccgcttct cccaggagga gatcaagaac atgtgggcgg
      481 ccttcccccc cgacgtgggc ggcaacgtcg actacaaaaa catctgctac gtcatcacgc
      541 acggcgacgc caaggaccag gagtaggggc acccgcgggc ctccgctgcc cgacgcttct
      601 gttcggcccg acctccaccc cggctcccaa taaaatttaa ctgatctttg tttctta
//
