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Protein

Myosin light chain 4

Gene

MYL4

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 filament binding Source: BHF-UCL
  • actin monomer binding Source: BHF-UCL
  • calcium ion binding Source: InterPro
  • myosin II heavy chain binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionMotor protein, Muscle protein, Myosin

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP12829

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin light chain 4
Alternative name(s):
Myosin light chain 1, embryonic muscle/atrial isoform
Myosin light chain alkali GT-1 isoform
Gene namesi
Name:MYL4
Synonyms:MLC1
ORF Names:PRO1957
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000198336.9
HGNCiHGNC:7585 MYL4
MIMi160770 gene
neXtProtiNX_P12829

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

Atrial fibrillation, familial, 18 (ATFB18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
See also OMIM:617280
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07795911E → K in ATFB18. 1 PublicationCorresponds to variant dbSNP:rs886037778EnsemblClinVar.1

Keywords - Diseasei

Atrial fibrillation, Disease mutation

Organism-specific databases

DisGeNETi4635
MalaCardsiMYL4
MIMi617280 phenotype
OpenTargetsiENSG00000198336
Orphaneti334 Familial atrial fibrillation
PharmGKBiPA31382

Chemistry databases

ChEMBLiCHEMBL3831286

Polymorphism and mutation databases

BioMutaiMYL4
DMDMi127138

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001986992 – 197Myosin light chain 4Add BLAST196

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N,N,N-trimethylalanineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiP12829
MaxQBiP12829
PaxDbiP12829
PeptideAtlasiP12829
PRIDEiP12829
ProteomicsDBi52878

2D gel databases

UCD-2DPAGEiP12829

PTM databases

iPTMnetiP12829
PhosphoSitePlusiP12829

Expressioni

Gene expression databases

BgeeiENSG00000198336 Expressed in 139 organ(s), highest expression level in right atrium auricular region
CleanExiHS_MLC1
HS_MYL4
ExpressionAtlasiP12829 baseline and differential
GenevisibleiP12829 HS

Organism-specific databases

HPAiHPA046859
HPA051884
HPA063034

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110719, 5 interactors
IntActiP12829, 4 interactors
STRINGi9606.ENSP00000347055

Structurei

3D structure databases

ProteinModelPortaliP12829
SMRiP12829
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini51 – 88EF-hand 1PROSITE-ProRule annotationAdd BLAST38
Domaini130 – 165EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0030 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00590000082921
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP12829
KOiK12750
OMAiGHINYTE
OrthoDBiEOG091G0TQL
PhylomeDBiP12829
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, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

P12829-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPKKPEPKK EAAKPAPAPA PAPAPAPAPA PEAPKEPAFD PKSVKIDFTA
60 70 80 90 100
DQIEEFKEAF SLFDRTPTGE MKITYGQCGD VLRALGQNPT NAEVLRVLGK
110 120 130 140 150
PKPEEMNVKM LDFETFLPIL QHISRNKEQG TYEDFVEGLR VFDKESNGTV
160 170 180 190
MGAELRHVLA TLGEKMTEAE VEQLLAGQED ANGCINYEAF VKHIMSG
Length:197
Mass (Da):21,565
Last modified:January 23, 2007 - v3
Checksum:iFB147B49E8506E6C
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L1K6I3L1K6_HUMAN
Myosin light chain 4
MYL4
172Annotation score:
I3L4B1I3L4B1_HUMAN
Myosin light chain 4
MYL4
101Annotation score:
A0A1C7CYY4A0A1C7CYY4_HUMAN
Myosin light chain 4
MYL4
196Annotation score:
I3L3U1I3L3U1_HUMAN
Myosin light chain 4
MYL4
115Annotation score:
I3L532I3L532_HUMAN
Myosin light chain 4
MYL4
173Annotation score:
I3L1R3I3L1R3_HUMAN
Myosin light chain 4
MYL4
61Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51D → E in AAA59891 (PubMed:3417683).Curated1
Sequence conflicti56F → L in AAA59891 (PubMed:3417683).Curated1
Sequence conflicti119I → V in AAA59856 (PubMed:2458299).Curated1
Sequence conflicti143D → E in AAA59891 (PubMed:3417683).Curated1
Sequence conflicti150V → D in AAA59891 (PubMed:3417683).Curated1
Sequence conflicti181A → V in AAA59856 (PubMed:2458299).Curated1
Sequence conflicti185I → V in AAA59856 (PubMed:2458299).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07795911E → K in ATFB18. 1 PublicationCorresponds to variant dbSNP:rs886037778EnsemblClinVar.1
Natural variantiVAR_050458186N → Y. Corresponds to variant dbSNP:rs16941677EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M36172 mRNA Translation: AAA36319.1
X13955 mRNA Translation: CAA32137.1
M24121 mRNA Translation: AAA59891.1
M37074
, M37069, M37070, M37071, M37072, M37073 Genomic DNA Translation: AAA59858.1
X58851
, X58852, X58853, X58854 Genomic DNA Translation: CAA41655.1
AF116676 mRNA Translation: AAF71096.1
CH471231 Genomic DNA Translation: EAW57684.1
CH471231 Genomic DNA Translation: EAW57685.1
BC030228 mRNA Translation: AAH30228.1
M20641 mRNA Translation: AAA59856.1
CCDSiCCDS11510.1
PIRiA32730 MOHU4E
RefSeqiNP_001002841.1, NM_001002841.1
NP_002467.1, NM_002476.2
XP_005257448.1, XM_005257391.4
UniGeneiHs.463300

Genome annotation databases

EnsembliENST00000354968; ENSP00000347055; ENSG00000198336
ENST00000393450; ENSP00000377096; ENSG00000198336
ENST00000572316; ENSP00000461570; ENSG00000198336
GeneIDi4635
KEGGihsa:4635
UCSCiuc002ilg.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M36172 mRNA Translation: AAA36319.1
X13955 mRNA Translation: CAA32137.1
M24121 mRNA Translation: AAA59891.1
M37074
, M37069, M37070, M37071, M37072, M37073 Genomic DNA Translation: AAA59858.1
X58851
, X58852, X58853, X58854 Genomic DNA Translation: CAA41655.1
AF116676 mRNA Translation: AAF71096.1
CH471231 Genomic DNA Translation: EAW57684.1
CH471231 Genomic DNA Translation: EAW57685.1
BC030228 mRNA Translation: AAH30228.1
M20641 mRNA Translation: AAA59856.1
CCDSiCCDS11510.1
PIRiA32730 MOHU4E
RefSeqiNP_001002841.1, NM_001002841.1
NP_002467.1, NM_002476.2
XP_005257448.1, XM_005257391.4
UniGeneiHs.463300

3D structure databases

ProteinModelPortaliP12829
SMRiP12829
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110719, 5 interactors
IntActiP12829, 4 interactors
STRINGi9606.ENSP00000347055

Chemistry databases

ChEMBLiCHEMBL3831286

PTM databases

iPTMnetiP12829
PhosphoSitePlusiP12829

Polymorphism and mutation databases

BioMutaiMYL4
DMDMi127138

2D gel databases

UCD-2DPAGEiP12829

Proteomic databases

EPDiP12829
MaxQBiP12829
PaxDbiP12829
PeptideAtlasiP12829
PRIDEiP12829
ProteomicsDBi52878

Protocols and materials databases

DNASUi4635
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354968; ENSP00000347055; ENSG00000198336
ENST00000393450; ENSP00000377096; ENSG00000198336
ENST00000572316; ENSP00000461570; ENSG00000198336
GeneIDi4635
KEGGihsa:4635
UCSCiuc002ilg.4 human

Organism-specific databases

CTDi4635
DisGeNETi4635
EuPathDBiHostDB:ENSG00000198336.9
GeneCardsiMYL4
HGNCiHGNC:7585 MYL4
HPAiHPA046859
HPA051884
HPA063034
MalaCardsiMYL4
MIMi160770 gene
617280 phenotype
neXtProtiNX_P12829
OpenTargetsiENSG00000198336
Orphaneti334 Familial atrial fibrillation
PharmGKBiPA31382
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0030 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00590000082921
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP12829
KOiK12750
OMAiGHINYTE
OrthoDBiEOG091G0TQL
PhylomeDBiP12829
TreeFamiTF351553

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP12829

Miscellaneous databases

GeneWikiiMYL4
GenomeRNAii4635
PROiPR:P12829
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198336 Expressed in 139 organ(s), highest expression level in right atrium auricular region
CleanExiHS_MLC1
HS_MYL4
ExpressionAtlasiP12829 baseline and differential
GenevisibleiP12829 HS

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, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMYL4_HUMAN
AccessioniPrimary (citable) accession number: P12829
Secondary accession number(s): D3DXJ7, P11783
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: November 7, 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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