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Protein

Myosin light chain 3

Gene

MYL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160808-MONOMER.
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

HGNCiHGNC:7584. MYL3.

Subcellular locationi

GO - Cellular componenti

  • A band Source: BHF-UCL
  • cytosol Source: Reactome
  • I band Source: BHF-UCL
  • muscle myosin complex Source: ProtInc
  • sarcomere Source: BHF-UCL
Complete GO annotation...

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 rs199474702dbSNPEnsembl.1
Natural variantiVAR_019843143E → K in CMH8; autosomal recessive. 1 PublicationCorresponds to variant rs104893750dbSNPEnsembl.1
Natural variantiVAR_004599149M → V in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant rs104893748dbSNPEnsembl.1
Natural variantiVAR_004600154R → H in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant rs104893749dbSNPEnsembl.1
Natural variantiVAR_073726177E → G in CMH8. 1 PublicationCorresponds to variant rs193922391dbSNPEnsembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

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

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 residuei72PhosphothreonineBy similarity1
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.

2D gel databases

UCD-2DPAGEP08590.

PTM databases

iPTMnetiP08590.
PhosphoSitePlusiP08590.

Miscellaneous databases

PMAP-CutDBP08590.

Expressioni

Gene expression databases

BgeeiENSG00000160808.
CleanExiHS_MYL3.
ExpressionAtlasiP08590. baseline and differential.
GenevisibleiP08590. HS.

Organism-specific databases

HPAiCAB018662.
HPA016564.
HPA046859.

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. 9 interactors.
IntActiP08590. 4 interactors.
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

Sequence similaritiesi

Contains 3 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 3 hits.
[Graphical view]

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 rs199474702dbSNPEnsembl.1
Natural variantiVAR_019843143E → K in CMH8; autosomal recessive. 1 PublicationCorresponds to variant rs104893750dbSNPEnsembl.1
Natural variantiVAR_004599149M → V in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant rs104893748dbSNPEnsembl.1
Natural variantiVAR_004600154R → H in CMH8; with mid-left ventricular chamber thickening. 1 PublicationCorresponds to variant rs104893749dbSNPEnsembl.1
Natural variantiVAR_073726177E → G in CMH8. 1 PublicationCorresponds to variant rs193922391dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP08590.
SMRiP08590.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110718. 9 interactors.
IntActiP08590. 4 interactors.
STRINGi9606.ENSP00000292327.

PTM databases

iPTMnetiP08590.
PhosphoSitePlusiP08590.

Polymorphism and mutation databases

BioMutaiMYL3.
DMDMi127149.

2D gel databases

UCD-2DPAGEP08590.

Proteomic databases

EPDiP08590.
MaxQBiP08590.
PaxDbiP08590.
PeptideAtlasiP08590.
PRIDEiP08590.

Protocols and materials databases

DNASUi4634.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4634.
DisGeNETi4634.
GeneCardsiMYL3.
GeneReviewsiMYL3.
HGNCiHGNC:7584. MYL3.
HPAiCAB018662.
HPA016564.
HPA046859.
MalaCardsiMYL3.
MIMi160790. gene.
608751. phenotype.
neXtProtiNX_P08590.
OpenTargetsiENSG00000160808.
Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31381.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160808-MONOMER.
ReactomeiR-HSA-390522. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSiMYL3. human.
GeneWikiiMYL3.
GenomeRNAii4634.
PMAP-CutDBP08590.
PROiP08590.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160808.
CleanExiHS_MYL3.
ExpressionAtlasiP08590. baseline and differential.
GenevisibleiP08590. HS.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMYL3_HUMAN
AccessioniPrimary (citable) accession number: P08590
Secondary accession number(s): B2R534, Q9NRS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 163 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

Keywords - Technical termi

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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.