UniProtKB - P05976 (MYL1_HUMAN)
Protein
Myosin light chain 1/3, skeletal muscle isoform
Gene
MYL1
Organism
Homo sapiens (Human)
Status
Functioni
Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.1 Publication
GO - Molecular functioni
- calcium ion binding Source: InterPro
- structural constituent of muscle Source: UniProtKB
GO - Biological processi
- cardiac muscle contraction Source: Ensembl
- muscle contraction Source: BHF-UCL
- muscle filament sliding Source: Reactome
Keywordsi
Molecular function | Motor protein, Muscle protein, Myosin |
Enzyme and pathway databases
PathwayCommonsi | P05976 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SIGNORi | P05976 |
Names & Taxonomyi
Protein namesi | Recommended name: Myosin light chain 1/3, skeletal muscle isoformShort name: MLC1/MLC3 Short name: MLC1F/MLC3F Alternative name(s): Myosin light chain alkali 1/2 Short name: Myosin light chain A1/A2 |
Gene namesi | Name:MYL1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7582, MYL1 |
MIMi | 160780, gene |
neXtProti | NX_P05976 |
VEuPathDBi | HostDB:ENSG00000168530.15 |
Subcellular locationi
Cytoskeleton
- muscle myosin complex Source: BHF-UCL
Cytosol
- cytosol Source: Reactome
Other locations
Pathology & Biotechi
Involvement in diseasei
Myopathy, congenital, with fast-twitch type II fiber atrophy (MYOFTA)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082312 | 163 | M → R in MYOFTA; no protein detected by western blot in patient muscle. 1 PublicationCorresponds to variant dbSNP:rs1259220084EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 4632 |
MalaCardsi | MYL1 |
MIMi | 618414, phenotype |
OpenTargetsi | ENSG00000168530 |
Orphaneti | 544602, Congenital myopathy with reduced type 2 muscle fibers |
PharmGKBi | PA31379 |
Miscellaneous databases
Pharosi | P05976, Tbio |
Genetic variation databases
BioMutai | MYL1 |
DMDMi | 127128 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | ||||
ChainiPRO_0000198681 | 2 – 194 | Myosin light chain 1/3, skeletal muscle isoformAdd BLAST | 193 | ||
Isoform MLC3 (identifier: P05976-2) | |||||
Initiator methioninei | RemovedCurated |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 2 | N,N,N-trimethylalanineBy similarity | 1 | ||
Modified residuei | 71 | PhosphothreonineBy similarity | 1 | ||
Modified residuei | 73 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 87 | PhosphothreonineBy similarity | 1 | ||
Modified residuei | 99 | PhosphoserineBy similarity | 1 | ||
Isoform MLC3 (identifier: P05976-2) | |||||
Modified residuei | 2 | N-acetylalanineCurated | 1 |
Post-translational modificationi
Acetylated at position 2.By similarity
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
EPDi | P05976 |
jPOSTi | P05976 |
MassIVEi | P05976 |
MaxQBi | P05976 |
PaxDbi | P05976 |
PeptideAtlasi | P05976 |
PRIDEi | P05976 |
ProteomicsDBi | 51863 [P05976-1] 51864 [P05976-2] |
2D gel databases
SWISS-2DPAGEi | P05976 |
PTM databases
iPTMneti | P05976 |
PhosphoSitePlusi | P05976 |
Expressioni
Gene expression databases
Bgeei | ENSG00000168530, Expressed in quadriceps femoris and 128 other tissues |
Genevisiblei | P05976, HS |
Organism-specific databases
HPAi | ENSG00000168530, Group enriched (skeletal muscle, tongue) |
Interactioni
Subunit structurei
Myosin is a hexamer of 2 heavy chains and 4 light chains. Does not bind calcium.
CuratedProtein-protein interaction databases
BioGRIDi | 110716, 24 interactors |
IntActi | P05976, 8 interactors |
STRINGi | 9606.ENSP00000307280 |
Miscellaneous databases
RNActi | P05976, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 50 – 85 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 127 – 162 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 162 – 194 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 33 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0030, Eukaryota |
GeneTreei | ENSGT01000000214455 |
HOGENOMi | CLU_061288_13_0_1 |
InParanoidi | P05976 |
OMAi | DQQDEFK |
OrthoDBi | 1470794at2759 |
PhylomeDBi | P05976 |
TreeFami | TF351553 |
Family and domain databases
CDDi | cd00051, EFh, 1 hit |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom |
SMARTi | View protein in SMART SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 3 hits |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform MLC1 (identifier: P05976-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPKKDVKKP VAAAAAAPAP APAPAPAPAP AKPKEEKIDL SAIKIEFSKE
60 70 80 90 100
QQDEFKEAFL LFDRTGDSKI TLSQVGDVLR ALGTNPTNAE VRKVLGNPSN
110 120 130 140 150
EELNAKKIEF EQFLPMMQAI SNNKDQATYE DFVEGLRVFD KEGNGTVMGA
160 170 180 190
ELRHVLATLG EKMKEEEVEA LMAGQEDSNG CINYEAFVKH IMSI
Isoform MLC3 (identifier: P05976-2) [UniParc] [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-53: MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQD → MSFSADQIA
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 45 | I → M in CAB42646 (PubMed:3601661).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082312 | 163 | M → R in MYOFTA; no protein detected by western blot in patient muscle. 1 PublicationCorresponds to variant dbSNP:rs1259220084EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038686 | 1 – 53 | MAPKK…KEQQD → MSFSADQIA in isoform MLC3. 4 PublicationsAdd BLAST | 53 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X05450 mRNA Translation: CAB42646.1 X05451 mRNA Translation: CAA29020.1 M20642 mRNA Translation: AAA59854.1 M20643 mRNA Translation: AAA59855.1 CR456869 mRNA Translation: CAG33150.1 AK311942 mRNA Translation: BAG34883.1 AK311892 mRNA Translation: BAG34833.1 CH471063 Genomic DNA Translation: EAW70483.1 CH471063 Genomic DNA Translation: EAW70484.1 BC005318 mRNA Translation: AAH05318.1 J05026 Genomic DNA Translation: AAA66960.1 |
CCDSi | CCDS2390.1 [P05976-1] CCDS2391.1 [P05976-2] |
PIRi | JS0431, MOHUA1 S07939, MOHUA2 |
RefSeqi | NP_524144.1, NM_079420.2 [P05976-1] NP_524146.1, NM_079422.2 [P05976-2] |
Genome annotation databases
Ensembli | ENST00000341685; ENSP00000343321; ENSG00000168530 [P05976-2] ENST00000352451; ENSP00000307280; ENSG00000168530 [P05976-1] |
GeneIDi | 4632 |
KEGGi | hsa:4632 |
UCSCi | uc002veb.4, human [P05976-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X05450 mRNA Translation: CAB42646.1 X05451 mRNA Translation: CAA29020.1 M20642 mRNA Translation: AAA59854.1 M20643 mRNA Translation: AAA59855.1 CR456869 mRNA Translation: CAG33150.1 AK311942 mRNA Translation: BAG34883.1 AK311892 mRNA Translation: BAG34833.1 CH471063 Genomic DNA Translation: EAW70483.1 CH471063 Genomic DNA Translation: EAW70484.1 BC005318 mRNA Translation: AAH05318.1 J05026 Genomic DNA Translation: AAA66960.1 |
CCDSi | CCDS2390.1 [P05976-1] CCDS2391.1 [P05976-2] |
PIRi | JS0431, MOHUA1 S07939, MOHUA2 |
RefSeqi | NP_524144.1, NM_079420.2 [P05976-1] NP_524146.1, NM_079422.2 [P05976-2] |
3D structure databases
SMRi | P05976 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110716, 24 interactors |
IntActi | P05976, 8 interactors |
STRINGi | 9606.ENSP00000307280 |
PTM databases
iPTMneti | P05976 |
PhosphoSitePlusi | P05976 |
Genetic variation databases
BioMutai | MYL1 |
DMDMi | 127128 |
2D gel databases
SWISS-2DPAGEi | P05976 |
Proteomic databases
EPDi | P05976 |
jPOSTi | P05976 |
MassIVEi | P05976 |
MaxQBi | P05976 |
PaxDbi | P05976 |
PeptideAtlasi | P05976 |
PRIDEi | P05976 |
ProteomicsDBi | 51863 [P05976-1] 51864 [P05976-2] |
Protocols and materials databases
Antibodypediai | 20019, 198 antibodies |
Genome annotation databases
Ensembli | ENST00000341685; ENSP00000343321; ENSG00000168530 [P05976-2] ENST00000352451; ENSP00000307280; ENSG00000168530 [P05976-1] |
GeneIDi | 4632 |
KEGGi | hsa:4632 |
UCSCi | uc002veb.4, human [P05976-1] |
Organism-specific databases
CTDi | 4632 |
DisGeNETi | 4632 |
GeneCardsi | MYL1 |
HGNCi | HGNC:7582, MYL1 |
HPAi | ENSG00000168530, Group enriched (skeletal muscle, tongue) |
MalaCardsi | MYL1 |
MIMi | 160780, gene 618414, phenotype |
neXtProti | NX_P05976 |
OpenTargetsi | ENSG00000168530 |
Orphaneti | 544602, Congenital myopathy with reduced type 2 muscle fibers |
PharmGKBi | PA31379 |
VEuPathDBi | HostDB:ENSG00000168530.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0030, Eukaryota |
GeneTreei | ENSGT01000000214455 |
HOGENOMi | CLU_061288_13_0_1 |
InParanoidi | P05976 |
OMAi | DQQDEFK |
OrthoDBi | 1470794at2759 |
PhylomeDBi | P05976 |
TreeFami | TF351553 |
Enzyme and pathway databases
PathwayCommonsi | P05976 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SIGNORi | P05976 |
Miscellaneous databases
BioGRID-ORCSi | 4632, 1 hit in 873 CRISPR screens |
ChiTaRSi | MYL1, human |
GeneWikii | MYL1 |
GenomeRNAii | 4632 |
Pharosi | P05976, Tbio |
PROi | PR:P05976 |
RNActi | P05976, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168530, Expressed in quadriceps femoris and 128 other tissues |
Genevisiblei | P05976, HS |
Family and domain databases
CDDi | cd00051, EFh, 1 hit |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom |
SMARTi | View protein in SMART SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MYL1_HUMAN | |
Accessioni | P05976Primary (citable) accession number: P05976 Secondary accession number(s): B2R4N6 Q6IBD5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1988 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 185 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants