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Myosin light chain 3 (Cardiac myosin light chain 1) (CMLC1) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin alkali light chain) (Ventricular myosin light chain 1) (VLCl) (Ventricular/slow twitch myosin alkali light chain) (MLC-lV/sb)

 MYL3_HUMAN              Reviewed;         195 AA.
P08590; B2R534; Q9NRS8;
01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
23-JAN-2007, sequence version 3.
27-SEP-2017, entry version 170.
RecName: Full=Myosin light chain 3 {ECO:0000305};
AltName: Full=Cardiac myosin light chain 1 {ECO:0000303|Ref.5};
Short=CMLC1 {ECO:0000303|Ref.5};
AltName: Full=Myosin light chain 1, slow-twitch muscle B/ventricular isoform {ECO:0000305};
Short=MLC1SB;
AltName: Full=Ventricular myosin alkali light chain {ECO:0000303|PubMed:3417683};
AltName: Full=Ventricular myosin light chain 1 {ECO:0000303|PubMed:3357795};
Short=VLCl {ECO:0000303|PubMed:3357795};
AltName: Full=Ventricular/slow twitch myosin alkali light chain {ECO:0000303|PubMed:2789520};
Short=MLC-lV/sb {ECO:0000303|PubMed:2789520};
Name=MYL3 {ECO:0000312|HGNC:HGNC:7584};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3417683;
Kurabayashi M., Komuro I., Tsuchimochi H., Takaku F., Yazaki Y.;
"Molecular cloning and characterization of human atrial and
ventricular myosin alkali light chain cDNA clones.";
J. Biol. Chem. 263:13930-13936(1988).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3357795; DOI=10.1093/nar/16.5.2353;
Hoffmann E., Shi Q.W., Floroff M., Mickle D.A.G., Wu T.-W.,
Olley P.M., Jackowski G.;
"Molecular cloning and complete nucleotide sequence of a human
ventricular myosin light chain 1.";
Nucleic Acids Res. 16:2353-2353(1988).
[3]
SEQUENCE REVISION.
Jackowski G.;
Submitted (MAY-1988) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2789520;
Fodor W.L., Darras B., Seharaseyon J., Falkenthal S., Francke U.,
Vanin E.F.;
"Human ventricular/slow twitch myosin alkali light chain gene
characterization, sequence, and chromosomal location.";
J. Biol. Chem. 264:2143-2149(1989).
[5]
NUCLEOTIDE SEQUENCE [MRNA].
Huang R., Peng B., Zhou G., Gong Z.;
"The sequence of human cardiac myosin light chain I (CMLC-1) from a
Chinese patient and the preparation of monoclonal antibody to
CHCMLC1.";
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skeletal muscle;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skeletal muscle;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
PROTEIN SEQUENCE OF 20-27; 34-40; 95-100; 124-129; 139-142 AND
155-171.
TISSUE=Heart;
PubMed=7498159; DOI=10.1002/elps.11501601192;
Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A.,
Ershova E.S., Egorov T.A., Musalyamov A.K.;
"The major protein expression profile and two-dimensional protein
database of human heart.";
Electrophoresis 16:1160-1169(1995).
[10]
METHYLATION AT ALA-2.
PubMed=3979397; DOI=10.1111/j.1432-1033.1985.tb08809.x;
Henry G.D., Trayer I.P., Brewer S., Levine B.A.;
"The widespread distribution of alpha-N-trimethylalanine as the N-
terminal amino acid of light chains from vertebrate striated muscle
myosins.";
Eur. J. Biochem. 148:75-82(1985).
[11]
VARIANTS CMH8 VAL-149 AND HIS-154.
PubMed=8673105; DOI=10.1038/ng0596-63;
Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A.,
Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D.;
"Mutations in either the essential or regulatory light chains of
myosin are associated with a rare myopathy in human heart and skeletal
muscle.";
Nat. Genet. 13:63-69(1996).
[12]
VARIANT CMH8 LYS-143.
PubMed=12021217; DOI=10.1161/01.CIR.0000018444.47798.94;
Olson T.M., Karst M.L., Whitby F.G., Driscoll D.J.;
"Myosin light chain mutation causes autosomal recessive cardiomyopathy
with mid-cavitary hypertrophy and restrictive physiology.";
Circulation 105:2337-2340(2002).
[13]
VARIANT CMH8 GLY-56.
PubMed=12707239; DOI=10.1161/01.CIR.0000066323.15244.54;
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T.,
Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M.,
Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B.,
Komajda M.;
"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum
of mutations, and implications for a molecular diagnosis strategy.";
Circulation 107:2227-2232(2003).
[14]
ERRATUM.
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T.,
Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M.,
Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B.,
Komajda M.;
Circulation 109:3258-3258(2004).
[15]
VARIANT CMH8 GLY-177.
PubMed=23594557; DOI=10.1159/000347138;
Jay A., Chikarmane R., Poulik J., Misra V.K.;
"Infantile hypertrophic cardiomyopathy associated with a novel MYL3
mutation.";
Cardiology 124:248-251(2013).
-!- FUNCTION: Regulatory light chain of myosin. Does not bind calcium.
-!- SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
-!- PTM: The N-terminus is blocked.
-!- PTM: N-terminus is methylated by METTL11A/NTM1. {ECO:0000250}.
-!- DISEASE: Cardiomyopathy, familial hypertrophic 8 (CMH8)
[MIM:608751]: A hereditary heart disorder characterized by
ventricular hypertrophy, which is usually asymmetric and often
involves the interventricular septum. The symptoms include
dyspnea, syncope, collapse, palpitations, and chest pain. They can
be readily provoked by exercise. The disorder has inter- and
intrafamilial variability ranging from benign to malignant forms
with high risk of cardiac failure and sudden cardiac death.
Rarely, patients present a variant of familial hypertrophic
cardiomyopathy, characterized by mid-left ventricular chamber
thickening. {ECO:0000269|PubMed:12021217,
ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:23594557,
ECO:0000269|PubMed:8673105}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
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EMBL; M24122; AAA59895.1; -; mRNA.
EMBL; X07373; CAA30292.1; -; mRNA.
EMBL; M24247; AAA59851.1; -; Genomic_DNA.
EMBL; M24242; AAA59851.1; JOINED; Genomic_DNA.
EMBL; M24243; AAA59851.1; JOINED; Genomic_DNA.
EMBL; M24244; AAA59851.1; JOINED; Genomic_DNA.
EMBL; M24245; AAA59851.1; JOINED; Genomic_DNA.
EMBL; M24246; AAA59851.1; JOINED; Genomic_DNA.
EMBL; AF174483; AAF91089.1; -; mRNA.
EMBL; AK312044; BAG34981.1; -; mRNA.
EMBL; CH471055; EAW64791.1; -; Genomic_DNA.
EMBL; BC009790; AAH09790.1; -; mRNA.
CCDS; CCDS2746.1; -.
PIR; B30881; MOHU3V.
RefSeq; NP_000249.1; NM_000258.2.
UniGene; Hs.517939; -.
PDB; 5TBY; EM; 20.00 A; C/D=1-195.
PDBsum; 5TBY; -.
ProteinModelPortal; P08590; -.
SMR; P08590; -.
BioGrid; 110718; 12.
IntAct; P08590; 4.
STRING; 9606.ENSP00000292327; -.
ChEMBL; CHEMBL3831286; -.
iPTMnet; P08590; -.
PhosphoSitePlus; P08590; -.
BioMuta; MYL3; -.
DMDM; 127149; -.
UCD-2DPAGE; P08590; -.
EPD; P08590; -.
MaxQB; P08590; -.
PaxDb; P08590; -.
PeptideAtlas; P08590; -.
PRIDE; P08590; -.
DNASU; 4634; -.
Ensembl; ENST00000292327; ENSP00000292327; ENSG00000160808.
Ensembl; ENST00000395869; ENSP00000379210; ENSG00000160808.
GeneID; 4634; -.
KEGG; hsa:4634; -.
UCSC; uc003cql.2; human.
CTD; 4634; -.
DisGeNET; 4634; -.
EuPathDB; HostDB:ENSG00000160808.9; -.
GeneCards; MYL3; -.
GeneReviews; MYL3; -.
HGNC; HGNC:7584; MYL3.
HPA; CAB018662; -.
HPA; HPA016564; -.
HPA; HPA046859; -.
HPA; HPA063034; -.
MalaCards; MYL3; -.
MIM; 160790; gene.
MIM; 608751; phenotype.
neXtProt; NX_P08590; -.
OpenTargets; ENSG00000160808; -.
Orphanet; 155; Familial isolated hypertrophic cardiomyopathy.
PharmGKB; PA31381; -.
eggNOG; KOG0030; Eukaryota.
eggNOG; COG5126; LUCA.
GeneTree; ENSGT00590000082921; -.
HOGENOM; HOG000233018; -.
HOVERGEN; HBG012180; -.
InParanoid; P08590; -.
KO; K12749; -.
OMA; ELNSKMM; -.
OrthoDB; EOG091G0TQL; -.
PhylomeDB; P08590; -.
TreeFam; TF351553; -.
Reactome; R-HSA-390522; Striated Muscle Contraction.
ChiTaRS; MYL3; human.
GeneWiki; MYL3; -.
GenomeRNAi; 4634; -.
PMAP-CutDB; P08590; -.
PRO; PR:P08590; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000160808; -.
CleanEx; HS_MYL3; -.
ExpressionAtlas; P08590; baseline and differential.
Genevisible; P08590; HS.
GO; GO:0031672; C:A band; IDA:BHF-UCL.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0031674; C:I band; IDA:BHF-UCL.
GO; GO:0005859; C:muscle myosin complex; TAS:ProtInc.
GO; GO:0030017; C:sarcomere; TAS:BHF-UCL.
GO; GO:0003785; F:actin monomer binding; IDA:BHF-UCL.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0003774; F:motor activity; IEA:Ensembl.
GO; GO:0032038; F:myosin II heavy chain binding; NAS:BHF-UCL.
GO; GO:0008307; F:structural constituent of muscle; TAS:ProtInc.
GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
GO; GO:0030049; P:muscle filament sliding; TAS:Reactome.
GO; GO:0032781; P:positive regulation of ATPase activity; ISS:BHF-UCL.
GO; GO:0006942; P:regulation of striated muscle contraction; IMP:BHF-UCL.
GO; GO:0002026; P:regulation of the force of heart contraction; IMP:BHF-UCL.
GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IMP:BHF-UCL.
CDD; cd00051; EFh; 1.
InterPro; IPR011992; EF-hand-dom_pair.
InterPro; IPR002048; EF_hand_dom.
SUPFAM; SSF47473; SSF47473; 1.
PROSITE; PS50222; EF_HAND_2; 3.
1: Evidence at protein level;
3D-structure; Cardiomyopathy; Complete proteome;
Direct protein sequencing; Disease mutation; Methylation;
Motor protein; Muscle protein; Myosin; Phosphoprotein;
Reference proteome; Repeat.
INIT_MET 1 1 Removed. {ECO:0000250|UniProtKB:P09542}.
CHAIN 2 195 Myosin light chain 3.
/FTId=PRO_0000198696.
DOMAIN 49 86 EF-hand 1. {ECO:0000255|PROSITE-
ProRule:PRU00448}.
DOMAIN 128 163 EF-hand 2. {ECO:0000255|PROSITE-
ProRule:PRU00448}.
DOMAIN 163 195 EF-hand 3. {ECO:0000255|PROSITE-
ProRule:PRU00448}.
MOD_RES 2 2 N,N,N-trimethylalanine.
{ECO:0000305|PubMed:3979397}.
MOD_RES 88 88 Phosphothreonine.
{ECO:0000250|UniProtKB:P16409}.
MOD_RES 127 127 Phosphothreonine.
{ECO:0000250|UniProtKB:P09542}.
MOD_RES 129 129 Phosphothreonine.
{ECO:0000250|UniProtKB:P16409}.
MOD_RES 130 130 Phosphotyrosine.
{ECO:0000250|UniProtKB:P16409}.
MOD_RES 179 179 Phosphoserine.
{ECO:0000250|UniProtKB:P09542}.
VARIANT 56 56 E -> G (in CMH8; dbSNP:rs199474702).
{ECO:0000269|PubMed:12707239}.
/FTId=VAR_019842.
VARIANT 143 143 E -> K (in CMH8; autosomal recessive;
dbSNP:rs104893750).
{ECO:0000269|PubMed:12021217}.
/FTId=VAR_019843.
VARIANT 149 149 M -> V (in CMH8; with mid-left
ventricular chamber thickening;
dbSNP:rs104893748).
{ECO:0000269|PubMed:8673105}.
/FTId=VAR_004599.
VARIANT 154 154 R -> H (in CMH8; with mid-left
ventricular chamber thickening;
dbSNP:rs104893749).
{ECO:0000269|PubMed:8673105}.
/FTId=VAR_004600.
VARIANT 177 177 E -> G (in CMH8; dbSNP:rs193922391).
{ECO:0000269|PubMed:23594557}.
/FTId=VAR_073726.
CONFLICT 171 171 K -> R (in Ref. 5; AAF91089).
{ECO:0000305}.
SEQUENCE 195 AA; 21932 MW; 306CF328841729DD CRC64;
MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ IEEFKEAFML
FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR QEELNTKMMD FETFLPMLQH
ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG AELRHVLATL GERLTEDEVE KLMAGQEDSN
GCINYEAFVK HIMSS


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