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Protein

Myosin light chain 3

Gene

MYL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regulatory light chain of myosin. Does not bind calcium.

GO - Molecular functioni

  • actin monomer binding Source: BHF-UCL
  • calcium ion binding Source: InterPro
  • motor activity Source: Ensembl
  • myosin II heavy chain binding Source: BHF-UCL
  • structural constituent of muscle Source: ProtInc

GO - Biological processi

  • cardiac muscle contraction Source: BHF-UCL
  • muscle filament sliding Source: Reactome
  • positive regulation of ATPase activity Source: BHF-UCL
  • regulation of striated muscle contraction Source: BHF-UCL
  • regulation of the force of heart contraction Source: BHF-UCL
  • skeletal muscle tissue development Source: Ensembl
  • ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

Keywordsi

Molecular functionMotor protein, Muscle protein, Myosin

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin light chain 3Curated
Alternative name(s):
Cardiac myosin light chain 11 Publication
Short name:
CMLC11 Publication
Myosin light chain 1, slow-twitch muscle B/ventricular isoformCurated
Short name:
MLC1SB
Ventricular myosin alkali light chain1 Publication
Ventricular myosin light chain 11 Publication
Short name:
VLCl1 Publication
Ventricular/slow twitch myosin alkali light chain1 Publication
Short name:
MLC-lV/sb1 Publication
Gene namesi
Name:MYL3Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000160808.9
HGNCiHGNC:7584 MYL3
MIMi160790 gene
neXtProtiNX_P08590

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 8 (CMH8)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608751
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01984256E → G in CMH8. 1 PublicationCorresponds to variant dbSNP:rs199474702EnsemblClinVar.1
Natural variantiVAR_019843143E → K in CMH8; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs104893750EnsemblClinVar.1
Natural variantiVAR_004599149M → V in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant dbSNP:rs104893748EnsemblClinVar.1
Natural variantiVAR_004600154R → H in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant dbSNP:rs104893749EnsemblClinVar.1
Natural variantiVAR_073726177E → G in CMH8. 1 PublicationCorresponds to variant dbSNP:rs193922391EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi4634
GeneReviewsiMYL3
MalaCardsiMYL3
MIMi608751 phenotype
OpenTargetsiENSG00000160808
Orphaneti155 Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA31381

Chemistry databases

ChEMBLiCHEMBL3831286

Polymorphism and mutation databases

BioMutaiMYL3
DMDMi127149

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001986962 – 195Myosin light chain 3Add BLAST194

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N,N,N-trimethylalanine1 Publication1
Modified residuei88PhosphothreonineBy similarity1
Modified residuei127PhosphothreonineBy similarity1
Modified residuei129PhosphothreonineBy similarity1
Modified residuei130PhosphotyrosineBy similarity1
Modified residuei179PhosphoserineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiP08590
MaxQBiP08590
PaxDbiP08590
PeptideAtlasiP08590
PRIDEiP08590
ProteomicsDBi52134

2D gel databases

UCD-2DPAGEiP08590

PTM databases

iPTMnetiP08590
PhosphoSitePlusiP08590

Miscellaneous databases

PMAP-CutDBiP08590

Expressioni

Gene expression databases

BgeeiENSG00000160808
CleanExiHS_MYL3
ExpressionAtlasiP08590 baseline and differential
GenevisibleiP08590 HS

Organism-specific databases

HPAiCAB018662
HPA016564
HPA046859
HPA063034

Interactioni

Subunit structurei

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

GO - Molecular functioni

  • actin monomer binding Source: BHF-UCL
  • myosin II heavy chain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110718, 12 interactors
IntActiP08590, 5 interactors
MINTiP08590
STRINGi9606.ENSP00000292327

Structurei

3D structure databases

ProteinModelPortaliP08590
SMRiP08590
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 86EF-hand 1PROSITE-ProRule annotationAdd BLAST38
Domaini128 – 163EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini163 – 195EF-hand 3PROSITE-ProRule annotationAdd BLAST33

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0030 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00590000082921
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP08590
KOiK12749
OMAiELNSKMM
OrthoDBiEOG091G0TQL
PhylomeDBiP08590
TreeFamiTF351553

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 3 hits

Sequencei

Sequence statusi: Complete.

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

P08590-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ
60 70 80 90 100
IEEFKEAFML FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR
110 120 130 140 150
QEELNTKMMD FETFLPMLQH ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG
160 170 180 190
AELRHVLATL GERLTEDEVE KLMAGQEDSN GCINYEAFVK HIMSS
Length:195
Mass (Da):21,932
Last modified:January 23, 2007 - v3
Checksum:i306CF328841729DD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti171K → R in AAF91089 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01984256E → G in CMH8. 1 PublicationCorresponds to variant dbSNP:rs199474702EnsemblClinVar.1
Natural variantiVAR_019843143E → K in CMH8; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs104893750EnsemblClinVar.1
Natural variantiVAR_004599149M → V in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant dbSNP:rs104893748EnsemblClinVar.1
Natural variantiVAR_004600154R → H in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant dbSNP:rs104893749EnsemblClinVar.1
Natural variantiVAR_073726177E → G in CMH8. 1 PublicationCorresponds to variant dbSNP:rs193922391EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M24122 mRNA Translation: AAA59895.1
X07373 mRNA Translation: CAA30292.1
M24247
, 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
CCDSiCCDS2746.1
PIRiB30881 MOHU3V
RefSeqiNP_000249.1, NM_000258.2
UniGeneiHs.517939

Genome annotation databases

EnsembliENST00000292327; ENSP00000292327; ENSG00000160808
ENST00000395869; ENSP00000379210; ENSG00000160808
GeneIDi4634
KEGGihsa:4634
UCSCiuc003cql.2 human

Similar proteinsi

Entry informationi

Entry nameiMYL3_HUMAN
AccessioniPrimary (citable) accession number: P08590
Secondary accession number(s): B2R534, Q9NRS8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: January 23, 2007
Last modified: July 18, 2018
This is version 173 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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