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P08590 (MYL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin light chain 3
Alternative name(s):
Cardiac myosin light chain 1
Short name=CMLC1
Myosin light chain 1, slow-twitch muscle B/ventricular isoform
Short name=MLC1SB
Ventricular/slow twitch myosin alkali light chain
Gene names
Name:MYL3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length195 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulatory light chain of myosin. Does not bind calcium.

Subunit structure

Myosin is a hexamer of 2 heavy chains and 4 light chains.

Post-translational modification

The N-terminus is blocked.

N-terminus is methylated by METTL11A/NTM1 By similarity. Ref.10

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.13

Sequence similarities

Contains 3 EF-hand domains.

Ontologies

Keywords
   DiseaseCardiomyopathy
Disease mutation
   DomainRepeat
   Molecular functionMotor protein
Muscle protein
Myosin
   PTMMethylation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcardiac muscle contraction

Inferred from mutant phenotype PubMed 16675844. Source: BHF-UCL

muscle filament sliding

Traceable author statement. Source: Reactome

positive regulation of ATPase activity

Inferred from sequence or structural similarity PubMed 16675844. Source: BHF-UCL

regulation of striated muscle contraction

Inferred from mutant phenotype PubMed 16675844. Source: BHF-UCL

regulation of the force of heart contraction

Inferred from mutant phenotype PubMed 16675844. Source: BHF-UCL

skeletal muscle tissue development

Inferred from electronic annotation. Source: Ensembl

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 16754800Ref.11. Source: BHF-UCL

   Cellular_componentA band

Inferred from direct assay PubMed 16675844. Source: BHF-UCL

I band

Inferred from direct assay PubMed 16675844. Source: BHF-UCL

cytosol

Traceable author statement. Source: Reactome

muscle myosin complex

Traceable author statement Ref.4. Source: ProtInc

sarcomere

Traceable author statement PubMed 16754800. Source: BHF-UCL

   Molecular_functionactin monomer binding

Inferred from direct assay PubMed 16675844. Source: BHF-UCL

calcium ion binding

Inferred from electronic annotation. Source: InterPro

motor activity

Inferred from electronic annotation. Source: Ensembl

myosin II heavy chain binding

Non-traceable author statement PubMed 16675844. Source: BHF-UCL

structural constituent of muscle

Traceable author statement Ref.4. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 195194Myosin light chain 3
PRO_0000198696

Regions

Domain49 – 8638EF-hand 1
Domain128 – 16336EF-hand 2
Domain163 – 19533EF-hand 3

Amino acid modifications

Modified residue21N,N,N-trimethylalanine Probable

Natural variations

Natural variant561E → G in CMH8. Ref.13
VAR_019842
Natural variant1431E → K in CMH8; autosomal recessive. Ref.12
VAR_019843
Natural variant1491M → V in CMH8; with mid-left ventricular chamber thickening. Ref.11
VAR_004599
Natural variant1541R → H in CMH8; with mid-left ventricular chamber thickening. Ref.11
VAR_004600

Experimental info

Sequence conflict1711K → R in AAF91089. Ref.5

Sequences

Sequence LengthMass (Da)Tools
P08590 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 306CF328841729DD

FASTA19521,932
        10         20         30         40         50         60 
MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ IEEFKEAFML 

        70         80         90        100        110        120 
FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR QEELNTKMMD FETFLPMLQH 

       130        140        150        160        170        180 
ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG AELRHVLATL GERLTEDEVE KLMAGQEDSN 

       190 
GCINYEAFVK HIMSS 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones."
Kurabayashi M., Komuro I., Tsuchimochi H., Takaku F., Yazaki Y.
J. Biol. Chem. 263:13930-13936(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1."
Hoffmann E., Shi Q.W., Floroff M., Mickle D.A.G., Wu T.-W., Olley P.M., Jackowski G.
Nucleic Acids Res. 16:2353-2353(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]Jackowski G.
Submitted (MAY-1988) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[4]"Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location."
Fodor W.L., Darras B., Seharaseyon J., Falkenthal S., Francke U., Vanin E.F.
J. Biol. Chem. 264:2143-2149(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The sequence of human cardiac myosin light chain I (CMLC-1) from a Chinese patient and the preparation of monoclonal antibody to CHCMLC1."
Huang R., Peng B., Zhou G., Gong Z.
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skeletal muscle.
[7]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skeletal muscle.
[9]"The major protein expression profile and two-dimensional protein database of human heart."
Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., Ershova E.S., Egorov T.A., Musalyamov A.K.
Electrophoresis 16:1160-1169(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 20-27; 34-40; 95-100; 124-129; 139-142 AND 155-171.
Tissue: Heart.
[10]"The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins."
Henry G.D., Trayer I.P., Brewer S., Levine B.A.
Eur. J. Biochem. 148:75-82(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: METHYLATION AT ALA-2.
[11]"Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle."
Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D.
Nat. Genet. 13:63-69(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH8 VAL-149 AND HIS-154.
[12]"Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology."
Olson T.M., Karst M.L., Whitby F.G., Driscoll D.J.
Circulation 105:2337-2340(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH8 LYS-143.
[13]"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
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 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH8 GLY-56.
[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)
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M24122 mRNA. Translation: AAA59895.1.
X07373 mRNA. Translation: CAA30292.1.
M24247 expand/collapse EMBL AC list , M24242, M24243, M24244, M24245, M24246 Genomic DNA. Translation: AAA59851.1.
AF174483 mRNA. Translation: AAF91089.1.
AK312044 mRNA. Translation: BAG34981.1.
CH471055 Genomic DNA. Translation: EAW64791.1.
BC009790 mRNA. Translation: AAH09790.1.
PIRMOHU3V. B30881.
RefSeqNP_000249.1. NM_000258.2.
UniGeneHs.517939.

3D structure databases

ProteinModelPortalP08590.
SMRP08590. Positions 49-194.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110718. 5 interactions.
IntActP08590. 4 interactions.
STRING9606.ENSP00000292327.

PTM databases

PhosphoSiteP08590.

Polymorphism databases

DMDM127149.

2D gel databases

UCD-2DPAGEP08590.

Proteomic databases

PaxDbP08590.
PRIDEP08590.

Protocols and materials databases

DNASU4634.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000292327; ENSP00000292327; ENSG00000160808.
ENST00000395869; ENSP00000379210; ENSG00000160808.
GeneID4634.
KEGGhsa:4634.
UCSCuc003cql.1. human.

Organism-specific databases

CTD4634.
GeneCardsGC03M046899.
HGNCHGNC:7584. MYL3.
HPACAB018662.
HPA016564.
MIM160790. gene.
608751. phenotype.
neXtProtNX_P08590.
Orphanet155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBPA31381.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5126.
HOGENOMHOG000233018.
HOVERGENHBG012180.
InParanoidP08590.
KOK12749.
OMARPKEAEF.
OrthoDBEOG7HQN9N.
PhylomeDBP08590.
TreeFamTF351553.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

ArrayExpressP08590.
BgeeP08590.
CleanExHS_MYL3.
GenevestigatorP08590.

Family and domain databases

Gene3D1.10.238.10. 2 hits.
InterProIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PROSITEPS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYL3. human.
GeneWikiMYL3.
GenomeRNAi4634.
NextBio17840.
PMAP-CutDBP08590.
PROP08590.
SOURCESearch...

Entry information

Entry nameMYL3_HUMAN
AccessionPrimary (citable) accession number: P08590
Secondary accession number(s): B2R534, Q9NRS8
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 141 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM