MYL4_HUMAN
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 03-AUG-2022, entry version 193.
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; 29.
DR IntAct; P12829; 5.
DR STRING; 9606.ENSP00000347055; -.
DR ChEMBL; CHEMBL3831286; -.
DR iPTMnet; P12829; -.
DR PhosphoSitePlus; P12829; -.
DR BioMuta; MYL4; -.
DR DMDM; 127138; -.
DR UCD-2DPAGE; P12829; -.
DR EPD; P12829; -.
DR jPOST; P12829; -.
DR MassIVE; P12829; -.
DR MaxQB; P12829; -.
DR PaxDb; P12829; -.
DR PeptideAtlas; P12829; -.
DR PRIDE; P12829; -.
DR ProteomicsDB; 52878; -.
DR Antibodypedia; 30134; 310 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 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; PSRTMAP; -.
DR OrthoDB; 1470794at2759; -.
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; 13 hits in 1075 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 118 other tissues.
DR ExpressionAtlas; P12829; baseline and differential.
DR Genevisible; P12829; HS.
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 InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS50222; EF_HAND_2; 2.
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
