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    MYL4 myosin light chain 4 [ Homo sapiens (human) ]

    Gene ID: 4635, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MYL4provided by HGNC
    Official Full Name
    myosin light chain 4provided by HGNC
    Primary source
    HGNC:HGNC:7585
    See related
    Ensembl:ENSG00000198336 MIM:160770; AllianceGenome:HGNC:7585
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GT1; ALC1; AMLC; PRO1957
    Summary
    Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward heart (RPKM 587.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See MYL4 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47189433..47227650)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48071363..48090003)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45286394..45301045)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein GVQW1-like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:45213296-45214495 Neighboring gene cell division cycle 27 Neighboring gene ribosomal protein S2 pseudogene 47 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45266269-45266865 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8623 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:45298098-45298754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45298755-45299410 Neighboring gene Sharpr-MPRA regulatory region 4457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45314666-45315602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45315603-45316539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8624 Neighboring gene RNA, U7 small nuclear 186 pseudogene Neighboring gene integrin subunit beta 3 Neighboring gene Sharpr-MPRA regulatory region 629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45353259-45353806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12306 Neighboring gene uncharacterized LOC107985029

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation. Liu Y, et al. J Immunol Res, 2022. PMID 35874900, Free PMC Article
    2. The human embryonic myosin alkali light chain gene: use of alternative promoters and 3' non-coding regions. Rotter M, et al. Nucleic Acids Res, 1991 Apr 11. PMID 2027757, Free PMC Article
    3. Proteomic analysis of pharmacologically preconditioned cardiomyocytes reveals novel phosphorylation of myosin light chain 1. Arrell DK, et al. Circ Res, 2001 Sep 14. PMID 11557734
    4. Tuning the human heart molecular motors by myosin light chains. Morano I. J Mol Med (Berl), 1999 Jul. PMID 10494800
    5. Heterogenic mRNAs with an identical protein-coding region of the human embryonic myosin alkali light chain in skeletal muscle cells. Zimmermann K, et al. J Mol Biol, 1990 Feb 5. PMID 2308163

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation.
      Title: Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation.
    2. Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.
      Title: Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.
    3. The authors describe in a population approach a loss of function mutation in the myosin gene MYL4 that, in the homozygous state, is completely penetrant for early-onset AF. The finding may provide novel mechanistic insight into the pathophysiology of this complex arrhythmia.
      Title: A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
    4. a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4, caused atrial fibrillation.
      Title: A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.
    5. A recessive frameshift mutation in MYL4 causes early-onset atrial fibrillation.
      Title: Large-scale whole-genome sequencing of the Icelandic population.
    6. results demonstrate that the expression of hALC-1 could have a beneficial effect on the overloaded hypertrophied heart
      Title: Human atrial myosin light chain 1 expression attenuates heart failure.
    7. The N-terminus of this protein is an actin binding site.
      Title: The N-terminus of A1-type myosin essential light chains binds actin and modulates myosin motor function.
    8. The (Ala-Pro) rich part of this protein acts as a "spacer arm" responsible for correct positioning of the N-terminal actin binding site.
      Title: The rôle of the proline-rich region in A1-type myosin essential light chains: implications for information transmission in the actomyosin complex.
    9. NMR showed involvement of N-terminus and lysines 3 and 4 in interaction with actin. Mutations of these lysines (K3A,K4R,K4A,K4D) resulted in altered actin binding and actin activated MgATPase. Mutation of Ala-1 to val had no effect on binding or kinetics.
      Title: Size and charge requirements for kinetic modulation and actin binding by alkali 1-type myosin essential light chains.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Atrial fibrillation, familial, 18
    MedGen: C4310636 OMIM: 617280 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables actin monomer binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin monomer binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin II heavy chain binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ATP-dependent activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of the force of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in A band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in A band IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myosin light chain 4
    Names
    atrial myosin light chain 1
    myosin, atrial/fetal muscle, light chain
    myosin, light chain 4, alkali; atrial, embryonic
    myosin, light polypeptide 4, alkali; atrial, embryonic

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052847.2 RefSeqGene

      Range
      24917..39248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002841.2 → NP_001002841.1  myosin light chain 4

      See identical proteins and their annotated locations for NP_001002841.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AC087649, BC030228, BU658678, H83803
      Consensus CDS
      CCDS11510.1
      UniProtKB/Swiss-Prot
      D3DXJ7, P11783, P12829
      UniProtKB/TrEMBL
      A0A1C7CYY4
      Related
      ENSP00000347055.1, ENST00000354968.5
      Conserved Domains (1) summary
      PTZ00184
      Location:49 → 196
      PTZ00184; calmodulin; Provisional

    2. NM_002476.2 → NP_002467.1  myosin light chain 4

      See identical proteins and their annotated locations for NP_002467.1

      Status: REVIEWED

      Source sequence(s)
      X58851
      Consensus CDS
      CCDS11510.1
      UniProtKB/Swiss-Prot
      D3DXJ7, P11783, P12829
      UniProtKB/TrEMBL
      A0A1C7CYY4
      Related
      ENSP00000377096.1, ENST00000393450.5
      Conserved Domains (1) summary
      PTZ00184
      Location:49 → 196
      PTZ00184; calmodulin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47189433..47227650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436131.1 → XP_047292087.1  myosin light chain 4 isoform X1

    2. XM_011524839.3 → XP_011523141.2  myosin light chain 4 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYY4
      Conserved Domains (1) summary
      cl25352
      Location:86 → 227
      EFh_PEF; The penta-EF hand (PEF) family

    3. XM_017024683.2 → XP_016880172.1  myosin light chain 4 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYY4
      Conserved Domains (1) summary
      cl25352
      Location:86 → 227
      EFh_PEF; The penta-EF hand (PEF) family

    4. XM_005257391.6 → XP_005257448.1  myosin light chain 4 isoform X2

      See identical proteins and their annotated locations for XP_005257448.1

      UniProtKB/Swiss-Prot
      D3DXJ7, P11783, P12829
      UniProtKB/TrEMBL
      A0A1C7CYY4
      Related
      ENSP00000461570.1, ENST00000572316.5
      Conserved Domains (1) summary
      PTZ00184
      Location:49 → 196
      PTZ00184; calmodulin; Provisional

    5. XM_024450766.2 → XP_024306534.1  myosin light chain 4 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYY4
      Conserved Domains (1) summary
      cl25352
      Location:86 → 227
      EFh_PEF; The penta-EF hand (PEF) family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48071363..48090003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316239.1 → XP_054172214.1  myosin light chain 4 isoform X1

    2. XM_054316238.1 → XP_054172213.1  myosin light chain 4 isoform X1

    3. XM_054316241.1 → XP_054172216.1  myosin light chain 4 isoform X2

      UniProtKB/Swiss-Prot
      D3DXJ7, P11783, P12829

    4. XM_054316240.1 → XP_054172215.1  myosin light chain 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12829.3 GenPept UniProtKB/Swiss-Prot:P12829

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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