ID   MYL4_HUMAN              Reviewed;         197 AA.
AC   P12829; D3DXJ7; P11783;
DT   01-OCT-1989, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2007, sequence version 3.
DT   27-MAR-2024, entry version 202.
DE   RecName: Full=Myosin light chain 4;
DE   AltName: Full=Myosin light chain 1, embryonic muscle/atrial isoform;
DE   AltName: Full=Myosin light chain alkali GT-1 isoform;
GN   Name=MYL4; Synonyms=MLC1; ORFNames=PRO1957;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Skeletal muscle;
RX   PubMed=2849544; DOI=10.1111/j.1432-1033.1988.tb14428.x;
RA   Arnold H.H., Lohse P., Seidel U., Bober E.;
RT   "A novel human myosin alkali light chain is developmentally regulated.
RT   Expression in fetal cardiac and skeletal muscle and in adult atria.";
RL   Eur. J. Biochem. 178:53-60(1988).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   PubMed=3417683; DOI=10.1016/s0021-9258(18)68333-4;
RA   Kurabayashi M., Komuro I., Tsuchimochi H., Takaku F., Yazaki Y.;
RT   "Molecular cloning and characterization of human atrial and ventricular
RT   myosin alkali light chain cDNA clones.";
RL   J. Biol. Chem. 263:13930-13936(1988).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=2129532; DOI=10.1016/0888-7543(90)90554-8;
RA   Seharaseyon J., Bober E., Hsieh C.L., Fodor W.L., Francke U., Arnold H.H.,
RA   Vanin E.F.;
RT   "Human embryonic/atrial myosin alkali light chain gene: characterization,
RT   sequence, and chromosomal location.";
RL   Genomics 7:289-293(1990).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   PubMed=2308163; DOI=10.1016/0022-2836(90)90261-j;
RA   Zimmermann K., Kautz S., Hajdu G., Winter C., Whalen R.G.,
RA   Starzinski-Powitz A.;
RT   "Heterogenic mRNAs with an identical protein-coding region of the human
RT   embryonic myosin alkali light chain in skeletal muscle cells.";
RL   J. Mol. Biol. 211:505-513(1990).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC   TISSUE=Blood;
RX   PubMed=2027757; DOI=10.1093/nar/19.7.1497;
RA   Rotter M., Zimmerman K., Poustka A., Starzinski-Powitz A.;
RT   "The human embryonic myosin alkali light chain gene: use of alternative
RT   promoters and 3' non-coding regions.";
RL   Nucleic Acids Res. 19:1497-1504(1991).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Fetal liver;
RA   Zhang C., Yu Y., Zhang S., Wei H., Zhou G., Ouyang S., Luo L., Bi J.,
RA   Liu M., He F.;
RT   "Functional prediction of the coding sequences of 121 new genes deduced by
RT   analysis of cDNA clones from human fetal liver.";
RL   Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Pancreas, and Spleen;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [9]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 104-197.
RX   PubMed=2458299; DOI=10.1016/0378-1119(88)90231-4;
RA   Seidel U., Bober E., Winter B., Lenz S., Lohse P., Goedde H., Grzeschik K.,
RA   Arnold H.H.;
RT   "Alkali myosin light chains in man are encoded by a multigene family that
RT   includes the adult skeletal muscle, the embryonic or atrial, and
RT   nonsarcomeric isoforms.";
RL   Gene 66:135-146(1988).
RN   [10]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [11]
RP   VARIANT ATFB18 LYS-11, AND INVOLVEMENT IN ATFB18.
RX   PubMed=27066836; DOI=10.1038/ncomms11303;
RA   Orr N., Arnaout R., Gula L.J., Spears D.A., Leong-Sit P., Li Q.,
RA   Tarhuni W., Reischauer S., Chauhan V.S., Borkovich M., Uppal S., Adler A.,
RA   Coughlin S.R., Stainier D.Y., Gollob M.H.;
RT   "A mutation in the atrial-specific myosin light chain gene (MYL4) causes
RT   familial atrial fibrillation.";
RL   Nat. Commun. 7:11303-11303(2016).
CC   -!- FUNCTION: Regulatory light chain of myosin. Does not bind calcium.
CC   -!- SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
CC   -!- DISEASE: Atrial fibrillation, familial, 18 (ATFB18) [MIM:617280]: A
CC       familial form of atrial fibrillation, a common sustained cardiac rhythm
CC       disturbance. Atrial fibrillation is characterized by disorganized
CC       atrial electrical activity and ineffective atrial contraction promoting
CC       blood stasis in the atria and reduces ventricular filling. It can
CC       result in palpitations, syncope, thromboembolic stroke, and congestive
CC       heart failure. {ECO:0000269|PubMed:27066836}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
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DR   EMBL; M36172; AAA36319.1; -; mRNA.
DR   EMBL; X13955; CAA32137.1; -; mRNA.
DR   EMBL; M24121; AAA59891.1; -; mRNA.
DR   EMBL; M37074; AAA59858.1; -; Genomic_DNA.
DR   EMBL; M37069; AAA59858.1; JOINED; Genomic_DNA.
DR   EMBL; M37070; AAA59858.1; JOINED; Genomic_DNA.
DR   EMBL; M37071; AAA59858.1; JOINED; Genomic_DNA.
DR   EMBL; M37072; AAA59858.1; JOINED; Genomic_DNA.
DR   EMBL; M37073; AAA59858.1; JOINED; Genomic_DNA.
DR   EMBL; X58851; CAA41655.1; -; Genomic_DNA.
DR   EMBL; X58852; CAA41655.1; JOINED; Genomic_DNA.
DR   EMBL; X58853; CAA41655.1; JOINED; Genomic_DNA.
DR   EMBL; X58854; CAA41655.1; JOINED; Genomic_DNA.
DR   EMBL; AF116676; AAF71096.1; -; mRNA.
DR   EMBL; CH471231; EAW57684.1; -; Genomic_DNA.
DR   EMBL; CH471231; EAW57685.1; -; Genomic_DNA.
DR   EMBL; BC030228; AAH30228.1; -; mRNA.
DR   EMBL; M20641; AAA59856.1; -; mRNA.
DR   CCDS; CCDS11510.1; -.
DR   PIR; A32730; MOHU4E.
DR   RefSeq; NP_001002841.1; NM_001002841.1.
DR   RefSeq; NP_002467.1; NM_002476.2.
DR   RefSeq; XP_005257448.1; XM_005257391.4.
DR   AlphaFoldDB; P12829; -.
DR   SMR; P12829; -.
DR   BioGRID; 110719; 30.
DR   IntAct; P12829; 5.
DR   STRING; 9606.ENSP00000347055; -.
DR   ChEMBL; CHEMBL3831286; -.
DR   iPTMnet; P12829; -.
DR   PhosphoSitePlus; P12829; -.
DR   SwissPalm; P12829; -.
DR   BioMuta; MYL4; -.
DR   DMDM; 127138; -.
DR   EPD; P12829; -.
DR   jPOST; P12829; -.
DR   MassIVE; P12829; -.
DR   MaxQB; P12829; -.
DR   PaxDb; 9606-ENSP00000347055; -.
DR   PeptideAtlas; P12829; -.
DR   ProteomicsDB; 52878; -.
DR   Pumba; P12829; -.
DR   Antibodypedia; 30134; 343 antibodies from 30 providers.
DR   DNASU; 4635; -.
DR   Ensembl; ENST00000354968.5; ENSP00000347055.1; ENSG00000198336.9.
DR   Ensembl; ENST00000393450.5; ENSP00000377096.1; ENSG00000198336.9.
DR   Ensembl; ENST00000572316.5; ENSP00000461570.1; ENSG00000198336.9.
DR   GeneID; 4635; -.
DR   KEGG; hsa:4635; -.
DR   MANE-Select; ENST00000393450.5; ENSP00000377096.1; NM_002476.2; NP_002467.1.
DR   UCSC; uc002ilg.4; human.
DR   AGR; HGNC:7585; -.
DR   CTD; 4635; -.
DR   DisGeNET; 4635; -.
DR   GeneCards; MYL4; -.
DR   HGNC; HGNC:7585; MYL4.
DR   HPA; ENSG00000198336; Tissue enriched (heart).
DR   MalaCards; MYL4; -.
DR   MIM; 160770; gene.
DR   MIM; 617280; phenotype.
DR   neXtProt; NX_P12829; -.
DR   OpenTargets; ENSG00000198336; -.
DR   Orphanet; 334; Familial atrial fibrillation.
DR   PharmGKB; PA31382; -.
DR   VEuPathDB; HostDB:ENSG00000198336; -.
DR   eggNOG; KOG0030; Eukaryota.
DR   GeneTree; ENSGT01030000234570; -.
DR   InParanoid; P12829; -.
DR   OMA; NGCINYV; -.
DR   OrthoDB; 3080916at2759; -.
DR   PhylomeDB; P12829; -.
DR   TreeFam; TF351553; -.
DR   PathwayCommons; P12829; -.
DR   Reactome; R-HSA-390522; Striated Muscle Contraction.
DR   SignaLink; P12829; -.
DR   SIGNOR; P12829; -.
DR   BioGRID-ORCS; 4635; 14 hits in 1151 CRISPR screens.
DR   ChiTaRS; MYL4; human.
DR   GeneWiki; MYL4; -.
DR   GenomeRNAi; 4635; -.
DR   Pharos; P12829; Tbio.
DR   PRO; PR:P12829; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; P12829; Protein.
DR   Bgee; ENSG00000198336; Expressed in right atrium auricular region and 120 other cell types or tissues.
DR   ExpressionAtlas; P12829; baseline and differential.
DR   GO; GO:0031672; C:A band; IMP:BHF-UCL.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0016460; C:myosin II complex; IBA:GO_Central.
DR   GO; GO:0051015; F:actin filament binding; IMP:BHF-UCL.
DR   GO; GO:0003785; F:actin monomer binding; IDA:BHF-UCL.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0032038; F:myosin II heavy chain binding; NAS:BHF-UCL.
DR   GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR   GO; GO:0032781; P:positive regulation of ATP-dependent activity; IMP:BHF-UCL.
DR   GO; GO:0002026; P:regulation of the force of heart contraction; IMP:BHF-UCL.
DR   CDD; cd00051; EFh; 1.
DR   Gene3D; 1.10.238.10; EF-hand; 2.
DR   InterPro; IPR011992; EF-hand-dom_pair.
DR   InterPro; IPR002048; EF_hand_dom.
DR   PANTHER; PTHR23048; MYOSIN LIGHT CHAIN 1, 3; 1.
DR   PANTHER; PTHR23048:SF1; MYOSIN LIGHT CHAIN 4; 1.
DR   SUPFAM; SSF47473; EF-hand; 1.
DR   PROSITE; PS50222; EF_HAND_2; 2.
DR   UCD-2DPAGE; P12829; -.
DR   Genevisible; P12829; HS.
PE   1: Evidence at protein level;
KW   Atrial fibrillation; Disease variant; Methylation; Motor protein;
KW   Muscle protein; Myosin; Reference proteome; Repeat.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0000250|UniProtKB:P85100"
FT   CHAIN           2..197
FT                   /note="Myosin light chain 4"
FT                   /id="PRO_0000198699"
FT   DOMAIN          51..88
FT                   /note="EF-hand 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT   DOMAIN          130..165
FT                   /note="EF-hand 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT   REGION          1..42
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        13..36
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         2
FT                   /note="N,N,N-trimethylalanine"
FT                   /evidence="ECO:0000250|UniProtKB:P85100"
FT   VARIANT         11
FT                   /note="E -> K (in ATFB18; dbSNP:rs886037778)"
FT                   /evidence="ECO:0000269|PubMed:27066836"
FT                   /id="VAR_077959"
FT   VARIANT         186
FT                   /note="N -> Y (in dbSNP:rs16941677)"
FT                   /id="VAR_050458"
FT   CONFLICT        51
FT                   /note="D -> E (in Ref. 2; AAA59891)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        56
FT                   /note="F -> L (in Ref. 2; AAA59891)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        119
FT                   /note="I -> V (in Ref. 9; AAA59856)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        143
FT                   /note="D -> E (in Ref. 2; AAA59891)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        150
FT                   /note="V -> D (in Ref. 2; AAA59891)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        181
FT                   /note="A -> V (in Ref. 9; AAA59856)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        185
FT                   /note="I -> V (in Ref. 9; AAA59856)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   197 AA;  21565 MW;  FB147B49E8506E6C CRC64;
     MAPKKPEPKK EAAKPAPAPA PAPAPAPAPA PEAPKEPAFD PKSVKIDFTA DQIEEFKEAF
     SLFDRTPTGE MKITYGQCGD VLRALGQNPT NAEVLRVLGK PKPEEMNVKM LDFETFLPIL
     QHISRNKEQG TYEDFVEGLR VFDKESNGTV MGAELRHVLA TLGEKMTEAE VEQLLAGQED
     ANGCINYEAF VKHIMSG
//