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UniProtKB - P05976 (MYL1_HUMAN)

Entry version 185 (10 Feb 2021)
Sequence version 3 (23 Jan 2007)
Previous versions | rss
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Protein

Myosin light chain 1/3, skeletal muscle isoform

Gene

MYL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMotor protein, Muscle protein, Myosin

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P05976

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-390522, Striated Muscle Contraction

SIGNOR Signaling Network Open Resource

More...SIGNORi		P05976

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myosin light chain 1/3, skeletal muscle isoform
Short name:
MLC1/MLC3
Short name:
MLC1F/MLC3F
Alternative name(s):
Myosin light chain alkali 1/2
Short name:
Myosin light chain A1/A2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7582, MYL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		160780, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P05976

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000168530.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082312163M → R in MYOFTA; no protein detected by western blot in patient muscle. 1 PublicationCorresponds to variant dbSNP:rs1259220084EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4632

MalaCards human disease database

More...MalaCardsi		MYL1
MIMi618414, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168530

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		544602, Congenital myopathy with reduced type 2 muscle fibers

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31379

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P05976, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MYL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		127128

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001986812 – 194Myosin light chain 1/3, skeletal muscle isoformAdd BLAST193
Isoform MLC3 (identifier: P05976-2)
Initiator methionineiRemovedCurated

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N,N,N-trimethylalanineBy similarity1
Modified residuei71PhosphothreonineBy similarity1
Modified residuei73PhosphoserineBy similarity1
Modified residuei87PhosphothreonineBy similarity1
Modified residuei99PhosphoserineBy similarity1
Isoform MLC3 (identifier: P05976-2)
Modified residuei2N-acetylalanineCurated1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylated at position 2.By similarity

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P05976

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P05976

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P05976

MaxQB - The MaxQuant DataBase

More...MaxQBi		P05976

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P05976

PeptideAtlas

More...PeptideAtlasi		P05976

PRoteomics IDEntifications database

More...PRIDEi		P05976

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51863 [P05976-1]
51864 [P05976-2]

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P05976

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P05976

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P05976

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168530, Expressed in quadriceps femoris and 128 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P05976, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168530, Group enriched (skeletal muscle, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Myosin is a hexamer of 2 heavy chains and 4 light chains. Does not bind calcium.

Curated

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110716, 24 interactors

Protein interaction database and analysis system

More...IntActi		P05976, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000307280

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P05976, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P05976

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini50 – 85EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini127 – 162EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini162 – 194EF-hand 3PROSITE-ProRule annotationAdd BLAST33

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0030, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01000000214455

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_061288_13_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P05976

Identification of Orthologs from Complete Genome Data

More...OMAi		DQQDEFK

Database of Orthologous Groups

More...OrthoDBi		1470794at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P05976

TreeFam database of animal gene trees

More...TreeFami		TF351553

Family and domain databases

Conserved Domains Database

More...CDDi		cd00051, EFh, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011992, EF-hand-dom_pair
IPR002048, EF_hand_dom

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00054, EFh, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50222, EF_HAND_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform MLC1 (identifier: P05976-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:194
Mass (Da):21,145
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDA1F5C5E4C8A2124
GO
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

Show »
Length:150
Mass (Da):16,684
Checksum:i39D6FC3AD153483A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti45I → M in CAB42646 (PubMed:3601661).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_082312163M → R in MYOFTA; no protein detected by western blot in patient muscle. 1 PublicationCorresponds to variant dbSNP:rs1259220084EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0386861 – 53MAPKK…KEQQD → MSFSADQIA in isoform MLC3. 4 PublicationsAdd BLAST53

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2390.1 [P05976-1]
CCDS2391.1 [P05976-2]

Protein sequence database of the Protein Information Resource

More...PIRi		JS0431, MOHUA1
S07939, MOHUA2

NCBI Reference Sequences

More...RefSeqi		NP_524144.1, NM_079420.2 [P05976-1]
NP_524146.1, NM_079422.2 [P05976-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341685; ENSP00000343321; ENSG00000168530 [P05976-2]
ENST00000352451; ENSP00000307280; ENSG00000168530 [P05976-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4632

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4632

UCSC genome browser

More...UCSCi		uc002veb.4, human [P05976-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS2390.1 [P05976-1]
CCDS2391.1 [P05976-2]
PIRiJS0431, MOHUA1
S07939, MOHUA2
RefSeqiNP_524144.1, NM_079420.2 [P05976-1]
NP_524146.1, NM_079422.2 [P05976-2]

3D structure databases

SMRiP05976
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110716, 24 interactors
IntActiP05976, 8 interactors
STRINGi9606.ENSP00000307280

PTM databases

iPTMnetiP05976
PhosphoSitePlusiP05976

Genetic variation databases

BioMutaiMYL1
DMDMi127128

2D gel databases

SWISS-2DPAGEiP05976

Proteomic databases

EPDiP05976
jPOSTiP05976
MassIVEiP05976
MaxQBiP05976
PaxDbiP05976
PeptideAtlasiP05976
PRIDEiP05976
ProteomicsDBi51863 [P05976-1]
51864 [P05976-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20019, 198 antibodies

Genome annotation databases

EnsembliENST00000341685; ENSP00000343321; ENSG00000168530 [P05976-2]
ENST00000352451; ENSP00000307280; ENSG00000168530 [P05976-1]
GeneIDi4632
KEGGihsa:4632
UCSCiuc002veb.4, human [P05976-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4632
DisGeNETi4632

GeneCards: human genes, protein and diseases

More...GeneCardsi		MYL1
HGNCiHGNC:7582, MYL1
HPAiENSG00000168530, Group enriched (skeletal muscle, tongue)
MalaCardsiMYL1
MIMi160780, gene
618414, phenotype
neXtProtiNX_P05976
OpenTargetsiENSG00000168530
Orphaneti544602, Congenital myopathy with reduced type 2 muscle fibers
PharmGKBiPA31379
VEuPathDBiHostDB:ENSG00000168530.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0030, Eukaryota
GeneTreeiENSGT01000000214455
HOGENOMiCLU_061288_13_0_1
InParanoidiP05976
OMAiDQQDEFK
OrthoDBi1470794at2759
PhylomeDBiP05976
TreeFamiTF351553

Enzyme and pathway databases

PathwayCommonsiP05976
ReactomeiR-HSA-390522, Striated Muscle Contraction
SIGNORiP05976

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4632, 1 hit in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MYL1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MYL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4632
PharosiP05976, Tbio

Protein Ontology

More...PROi		PR:P05976
RNActiP05976, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168530, Expressed in quadriceps femoris and 128 other tissues
GenevisibleiP05976, HS

Family and domain databases

CDDicd00051, EFh, 1 hit
InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR002048, EF_hand_dom
SMARTiView protein in SMART
SM00054, EFh, 2 hits
SUPFAMiSSF47473, SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50222, EF_HAND_2, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P05976
Secondary accession number(s): B2R4N6
, B2R4T6, P06741, Q6IBD5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
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