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P10916

- MLRV_HUMAN

UniProt

P10916 - MLRV_HUMAN

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Protein

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Gene
MYL2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi37 – 4812Add
BLAST

GO - Molecular functioni

  1. actin monomer binding Source: BHF-UCL
  2. calcium ion binding Source: MGI
  3. myosin heavy chain binding Source: BHF-UCL
  4. protein binding Source: UniProtKB
  5. structural constituent of muscle Source: BHF-UCL

GO - Biological processi

  1. cardiac muscle contraction Source: Ensembl
  2. cardiac myofibril assembly Source: BHF-UCL
  3. heart contraction Source: BHF-UCL
  4. muscle cell fate specification Source: Ensembl
  5. muscle fiber development Source: Ensembl
  6. muscle filament sliding Source: Reactome
  7. negative regulation of cell growth Source: BHF-UCL
  8. post-embryonic development Source: Ensembl
  9. regulation of striated muscle contraction Source: ProtInc
  10. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Short name:
MLC-2
Short name:
MLC-2v
Gene namesi
Name:MYL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:7583. MYL2.

Subcellular locationi

CytoplasmmyofibrilsarcomereA band By similarity

GO - Cellular componenti

  1. A band Source: UniProtKB-SubCell
  2. cytoskeleton Source: BHF-UCL
  3. cytosol Source: Reactome
  4. myofibril Source: BHF-UCL
  5. myosin complex Source: BHF-UCL
  6. sarcomere Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131A → T in CMH10; with mid-left ventricular chamber thickening. 1 Publication
Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
VAR_004601
Natural varianti18 – 181F → L in CMH10. 1 Publication
Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
VAR_004602
Natural varianti22 – 221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. 2 Publications
VAR_004603
Natural varianti58 – 581R → Q in CMH10. 3 Publications
Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
VAR_004604
Natural varianti95 – 951P → A in CMH10; with mid-left ventricular chamber thickening. 1 Publication
VAR_004605
Natural varianti166 – 1661D → V in CMH10. 1 Publication
VAR_019844

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi608758. phenotype.
Orphaneti2020. Congenital fiber-type disproportion myopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 166165Myosin regulatory light chain 2, ventricular/cardiac muscle isoformPRO_0000198727Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N,N,N-trimethylalanine By similarity

Post-translational modificationi

N-terminus is methylated by METTL11A/NTM1 By similarity.
Phosphorylated by MYLK3 By similarity.

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiP10916.
PRIDEiP10916.

2D gel databases

UCD-2DPAGEP10916.

PTM databases

PhosphoSiteiP10916.

Expressioni

Gene expression databases

ArrayExpressiP10916.
BgeeiP10916.
CleanExiHS_MYL2.
GenevestigatoriP10916.

Organism-specific databases

HPAiHPA019763.
HPA039262.

Interactioni

Subunit structurei

Myosin is a hexamer of 2 heavy chains and 4 light chains. Interacts with MYOC.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
USP6P35125-35EBI-725770,EBI-954590

Protein-protein interaction databases

BioGridi110717. 5 interactions.
IntActiP10916. 4 interactions.
MINTiMINT-1430124.
STRINGi9606.ENSP00000228841.

Structurei

3D structure databases

ProteinModelPortaliP10916.
SMRiP10916. Positions 16-165.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 5936EF-hand 1Add
BLAST
Domaini94 – 12936EF-hand 2Add
BLAST
Domaini130 – 16536EF-hand 3Add
BLAST

Sequence similaritiesi

Contains 3 EF-hand domains.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5126.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiP10916.
KOiK10351.
OMAiHFEASAD.
OrthoDBiEOG7992RX.
PhylomeDBiP10916.
TreeFamiTF314218.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF00036. EF-hand_1. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P10916-1 [UniParc]FASTAAdd to Basket

« Hide

MAPKKAKKRA GGANSNVFSM FEQTQIQEFK EAFTIMDQNR DGFIDKNDLR    50
DTFAALGRVN VKNEEIDEMI KEAPGPINFT VFLTMFGEKL KGADPEETIL 100
NAFKVFDPEG KGVLKADYVR EMLTTQAERF SKEEVDQMFA AFPPDVTGNL 150
DYKNLVHIIT HGEEKD 166
Length:166
Mass (Da):18,789
Last modified:January 23, 2007 - v3
Checksum:iEA0BEF886AA3FAF5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131A → T in CMH10; with mid-left ventricular chamber thickening. 1 Publication
Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
VAR_004601
Natural varianti18 – 181F → L in CMH10. 1 Publication
Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
VAR_004602
Natural varianti22 – 221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. 2 Publications
VAR_004603
Natural varianti57 – 571G → R.
Corresponds to variant rs2428140 [ dbSNP | Ensembl ].
VAR_029449
Natural varianti58 – 581R → Q in CMH10. 3 Publications
Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
VAR_004604
Natural varianti95 – 951P → A in CMH10; with mid-left ventricular chamber thickening. 1 Publication
VAR_004605
Natural varianti166 – 1661D → V in CMH10. 1 Publication
VAR_019844

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS31901.1.
RefSeqiNP_000423.2. NM_000432.3.
UniGeneiHs.75535.

Genome annotation databases

EnsembliENST00000228841; ENSP00000228841; ENSG00000111245.
GeneIDi4633.
KEGGihsa:4633.
UCSCiuc001trx.4. human.

Polymorphism databases

DMDMi6166556.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS31901.1.
RefSeqi NP_000423.2. NM_000432.3.
UniGenei Hs.75535.

3D structure databases

ProteinModelPortali P10916.
SMRi P10916. Positions 16-165.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110717. 5 interactions.
IntActi P10916. 4 interactions.
MINTi MINT-1430124.
STRINGi 9606.ENSP00000228841.

PTM databases

PhosphoSitei P10916.

Polymorphism databases

DMDMi 6166556.

2D gel databases

UCD-2DPAGE P10916.

Proteomic databases

PaxDbi P10916.
PRIDEi P10916.

Protocols and materials databases

DNASUi 4633.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000228841 ; ENSP00000228841 ; ENSG00000111245 .
GeneIDi 4633.
KEGGi hsa:4633.
UCSCi uc001trx.4. human.

Organism-specific databases

CTDi 4633.
GeneCardsi GC12M111348.
GeneReviewsi MYL2.
HGNCi HGNC:7583. MYL2.
HPAi HPA019763.
HPA039262.
MIMi 160781. gene.
608758. phenotype.
neXtProti NX_P10916.
Orphaneti 2020. Congenital fiber-type disproportion myopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA31380.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5126.
HOGENOMi HOG000233018.
HOVERGENi HBG012180.
InParanoidi P10916.
KOi K10351.
OMAi HFEASAD.
OrthoDBi EOG7992RX.
PhylomeDBi P10916.
TreeFami TF314218.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi MYL2. human.
GeneWikii MYL2.
GenomeRNAii 4633.
NextBioi 17836.
PROi P10916.
SOURCEi Search...

Gene expression databases

ArrayExpressi P10916.
Bgeei P10916.
CleanExi HS_MYL2.
Genevestigatori P10916.

Family and domain databases

Gene3Di 1.10.238.10. 2 hits.
InterProi IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view ]
Pfami PF00036. EF-hand_1. 1 hit.
[Graphical view ]
SMARTi SM00054. EFh. 3 hits.
[Graphical view ]
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. "Protein interactions with myocilin."
    Wentz-Hunter K., Ueda J., Yue B.Y.
    Invest. Ophthalmol. Vis. Sci. 43:176-182(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MYOC.
  8. "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.
  9. "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.
  10. "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.
  11. "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.
  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.

Entry informationi

Entry nameiMLRV_HUMAN
AccessioniPrimary (citable) accession number: P10916
Secondary accession number(s): Q16123
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 153 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

This chain binds calcium.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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