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    MYL11 myosin light chain 11 [ Homo sapiens (human) ]

    Gene ID: 29895, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MYL11provided by HGNC
    Official Full Name
    myosin light chain 11provided by HGNC
    Primary source
    HGNC:HGNC:29824
    See related
    Ensembl:ENSG00000180209 MIM:617378; AllianceGenome:HGNC:29824
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DA1C; MLC2B; MRLC2; MYLPF; HUMMLC2B
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in muscle contraction. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 32.5) and esophagus (RPKM 15.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See MYL11 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30370934..30377991)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30757137..30764194)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30382255..30389312)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:30365679-30366878 Neighboring gene CD2 cytoplasmic tail binding protein 2 Neighboring gene CD2BP2 divergent transcript Neighboring gene TBC1 domain family member 10B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7364 Neighboring gene Sharpr-MPRA regulatory region 9884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30390133-30390690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30390691-30391248 Neighboring gene septin 1 Neighboring gene zinc finger protein 48 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30404661-30405161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30407163-30407759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30410094-30410637 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30418651-30418830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7370 Neighboring gene zinc finger protein 771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7373

    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
    • 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. Characterization of myosin II regulatory light chain isoforms in HeLa cells. Kondo T, et al. Cytoskeleton (Hoboken), 2015 Dec. PMID 26663899
    2. The nucleotide sequence of a rat myosin light chain 2 gene. Nudel U, et al. Nucleic Acids Res, 1984 Sep 25. PMID 6091059, Free PMC Article
    3. Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships. Sachdev S, et al. DNA Seq, 2003 Oct. PMID 14756420
    4. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Chong JX, et al. Am J Hum Genet, 2020 Aug 6. PMID 32707087, Free PMC Article
    5. Cloning and characterization of cDNA sequences corresponding to myosin light chains 1, 2, and 3, troponin-C, troponin-T, alpha-tropomyosin, and alpha-actin. Garfinkel LI, et al. J Biol Chem, 1982 Sep 25. PMID 6179945

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
      Title: Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
    2. A cDNA clone encoding human fast skeletal myosin regulatory light chain (HSRLC) has been isolated and characterized from a fetal muscle cDNA library.
      Title: Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships.
    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
    Arthrogryposis, distal, type 1C
    MedGen: C5436834 OMIM: 619110 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)

    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

    Clone Names

    • MGC13450, DKFZp779C0757

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin-myosin filament sliding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in skeletal muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    part_of muscle myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myosin regulatory light chain 11
    Names
    fast skeletal myosin light chain 2
    myosin light chain 2
    myosin light chain, phosphorylatable, fast skeletal muscle
    myosin, light chain 11, regulatory

    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_050592.1 RefSeqGene

      Range
      8869..12058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001324458.2 → NP_001311387.1  myosin regulatory light chain 11

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) and variants 1 and 3 all encode the same protein.
      Source sequence(s)
      AA662706, AC127457, BC012571, BI837593
      Consensus CDS
      CCDS10677.1
      UniProtKB/Swiss-Prot
      A0A024QZG6, B2RA83, Q14843, Q6IB41, Q96A32
      UniProtKB/TrEMBL
      H3BPK4
      Conserved Domains (1) summary
      COG5126
      Location:15 → 154
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. NM_001324459.2 → NP_001311388.1  myosin regulatory light chain 11

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) and variants 1 and 2 all encode the same protein.
      Source sequence(s)
      AA662706, BC012571, BI828249
      Consensus CDS
      CCDS10677.1
      UniProtKB/Swiss-Prot
      A0A024QZG6, B2RA83, Q14843, Q6IB41, Q96A32
      UniProtKB/TrEMBL
      H3BPK4
      Conserved Domains (1) summary
      COG5126
      Location:15 → 154
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    3. NM_013292.5 → NP_037424.2  myosin regulatory light chain 11

      See identical proteins and their annotated locations for NP_037424.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the predominant variant. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AA662706, AK314082
      Consensus CDS
      CCDS10677.1
      UniProtKB/Swiss-Prot
      A0A024QZG6, B2RA83, Q14843, Q6IB41, Q96A32
      UniProtKB/TrEMBL
      H3BPK4
      Related
      ENSP00000325239.7, ENST00000322861.12
      Conserved Domains (1) summary
      COG5126
      Location:15 → 154
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30370934..30377991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30757137..30764194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A32.1 GenPept UniProtKB/Swiss-Prot:Q96A32

    Gene LinkOut

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