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P10916 (MLRV_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 148. 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·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Short name=MLC-2
Short name=MLC-2v
Gene names
Name:MYL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length166 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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

Subcellular location

CytoplasmmyofibrilsarcomereA band By similarity.

Post-translational modification

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

Phosphorylated by MYLK3 By similarity.

Involvement in disease

Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]: 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.7 Ref.8 Ref.9 Ref.10 Ref.12

Miscellaneous

This chain binds calcium.

Sequence similarities

Contains 3 EF-hand domains.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityPolymorphism
   DiseaseCardiomyopathy
Disease mutation
   DomainRepeat
   LigandCalcium
Metal-binding
   Molecular functionMotor protein
Muscle protein
Myosin
   PTMMethylation
Phosphoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcardiac muscle contraction

Inferred from electronic annotation. Source: Ensembl

cardiac myofibril assembly

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

heart contraction

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

muscle cell fate specification

Inferred from electronic annotation. Source: Ensembl

muscle fiber development

Inferred from electronic annotation. Source: Ensembl

muscle filament sliding

Traceable author statement. Source: Reactome

negative regulation of cell growth

Inferred from mutant phenotype PubMed 15824735. Source: BHF-UCL

post-embryonic development

Inferred from electronic annotation. Source: Ensembl

regulation of striated muscle contraction

Traceable author statement Ref.7. Source: ProtInc

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

   Cellular_componentA band

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytosol

Traceable author statement. Source: Reactome

myosin complex

Traceable author statement PubMed 11102452. Source: BHF-UCL

sarcomere

Traceable author statement PubMed 16754800. Source: BHF-UCL

   Molecular_functionactin monomer binding

Inferred from direct assay PubMed 9180271. Source: BHF-UCL

calcium ion binding

Inferred from direct assay PubMed 11102452. Source: MGI

myosin heavy chain binding

Non-traceable author statement Ref.4. Source: BHF-UCL

structural constituent of muscle

Non-traceable author statement PubMed 17885681. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

USP6P35125-35EBI-725770,EBI-954590

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 166165Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
PRO_0000198727

Regions

Domain24 – 5936EF-hand 1
Domain94 – 12936EF-hand 2
Domain130 – 16536EF-hand 3
Calcium binding37 – 4812

Amino acid modifications

Modified residue21N,N,N-trimethylalanine By similarity

Natural variations

Natural variant131A → T in CMH10; with mid-left ventricular chamber thickening. Ref.7
Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
VAR_004601
Natural variant181F → L in CMH10. Ref.8
Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
VAR_004602
Natural variant221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. Ref.7 Ref.9
VAR_004603
Natural variant571G → R.
Corresponds to variant rs2428140 [ dbSNP | Ensembl ].
VAR_029449
Natural variant581R → Q in CMH10. Ref.8 Ref.9 Ref.12
Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
VAR_004604
Natural variant951P → A in CMH10; with mid-left ventricular chamber thickening. Ref.7
VAR_004605
Natural variant1661D → V in CMH10. Ref.10
VAR_019844

Sequences

Sequence LengthMass (Da)Tools
P10916 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: EA0BEF886AA3FAF5

FASTA16618,789
        10         20         30         40         50         60 
MAPKKAKKRA GGANSNVFSM FEQTQIQEFK EAFTIMDQNR DGFIDKNDLR DTFAALGRVN 

        70         80         90        100        110        120 
VKNEEIDEMI KEAPGPINFT VFLTMFGEKL KGADPEETIL NAFKVFDPEG KGVLKADYVR 

       130        140        150        160 
EMLTTQAERF SKEEVDQMFA AFPPDVTGNL DYKNLVHIIT HGEEKD 

« Hide

References

« Hide 'large scale' references
[1]"Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2."
Libera L.D., Hoffmann E., Floroff M., Jackowski G.
Nucleic Acids Res. 17:2360-2360(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Heart.
[2]Wu Q.L.
Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Muscle.
[3]Margossian S.S., Umeda P.K., Sciaky D., Anderson P.A.W.
Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain."
Wadgaonkar R., Shafiq S., Rajmanickam C., Siddiqui M.A.
Cell. Mol. Biol. Res. 39:13-26(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]"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: Prostate and Skeletal muscle.
[6]"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 138-144.
Tissue: Heart.
[7]"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 CMH10 THR-13; LYS-22 AND ALA-95.
[8]"Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy."
Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., Forissier J.F., Desnos M., Dubourg O., Komajda M., Schwartz K., Hainque B.
J. Mol. Med. 76:208-214(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH10 LEU-18 AND GLN-58.
[9]"Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy."
Kabaeva Z.T., Perrot A., Wolter B., Dietz R., Cardim N., Correia J.M., Schulte H.D., Aldashev A.A., Mirrakhimov M.M., Osterziel K.J.
Eur. J. Hum. Genet. 10:741-748(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH10 LYS-22 AND GLN-58.
[10]"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 CMH10 VAL-166.
[11]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)
[12]"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH10 GLN-58.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X14332 mRNA. Translation: CAA32510.1.
M22815 mRNA. Translation: AAA91832.1.
AF020768 mRNA. Translation: AAB91993.1.
S69022 mRNA. Translation: AAB29658.2.
BC015821 mRNA. Translation: AAH15821.1.
BC031006 mRNA. Translation: AAH31006.1.
BC031008 mRNA. Translation: AAH31008.1.
RefSeqNP_000423.2. NM_000432.3.
UniGeneHs.75535.

3D structure databases

ProteinModelPortalP10916.
SMRP10916. Positions 16-165.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110717. 5 interactions.
IntActP10916. 4 interactions.
MINTMINT-1430124.
STRING9606.ENSP00000228841.

PTM databases

PhosphoSiteP10916.

Polymorphism databases

DMDM6166556.

2D gel databases

UCD-2DPAGEP10916.

Proteomic databases

PaxDbP10916.
PRIDEP10916.

Protocols and materials databases

DNASU4633.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000228841; ENSP00000228841; ENSG00000111245.
GeneID4633.
KEGGhsa:4633.
UCSCuc001trx.4. human.

Organism-specific databases

CTD4633.
GeneCardsGC12M111348.
HGNCHGNC:7583. MYL2.
HPAHPA019763.
HPA039262.
MIM160781. gene.
608758. phenotype.
neXtProtNX_P10916.
Orphanet2020. Congenital fiber-type disproportion myopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBPA31380.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5126.
HOGENOMHOG000233018.
HOVERGENHBG012180.
InParanoidP10916.
KOK10351.
OMATQMLTTQ.
OrthoDBEOG7992RX.
PhylomeDBP10916.
TreeFamTF314218.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

ArrayExpressP10916.
BgeeP10916.
CleanExHS_MYL2.
GenevestigatorP10916.

Family and domain databases

Gene3D1.10.238.10. 2 hits.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamPF00036. EF-hand_1. 1 hit.
[Graphical view]
SMARTSM00054. EFh. 3 hits.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYL2. human.
GeneWikiMYL2.
GenomeRNAi4633.
NextBio17836.
PROP10916.
SOURCESearch...

Entry information

Entry nameMLRV_HUMAN
AccessionPrimary (citable) accession number: P10916
Secondary accession number(s): Q16123
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: March 19, 2014
This is version 148 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 12

Human chromosome 12: entries, gene names and cross-references to MIM