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    MYL6B myosin light chain 6B [ Homo sapiens (human) ]

    Gene ID: 140465, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MYL6Bprovided by HGNC
    Official Full Name
    myosin light chain 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:29823
    See related
    Ensembl:ENSG00000196465 MIM:609930; AllianceGenome:HGNC:29823
    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
    MLC1SA
    Summary
    Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in testis (RPKM 60.9), prostate (RPKM 37.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYL6B in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56152587..56157982)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56120192..56125594)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56546371..56551766)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56514939-56515936 Neighboring gene zinc finger CCCH-type containing 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6472 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56521723-56522384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6475 Neighboring gene extended synaptotagmin 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:56536437-56537636 Neighboring gene uncharacterized LOC124902943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6476 Neighboring gene uncharacterized LOC124902942 Neighboring gene MYL6B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56554412-56555034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56555035-56555655 Neighboring gene myosin light chain 6 Neighboring gene SWI/SNF related BAF chromatin remodeling complex subunit C2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4548

    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. A novel isoform of myosin alkali light chain isolated from human muscle cells. Zimmermann K, et al. Nucleic Acids Res, 1989 Dec 25. PMID 2602161, Free PMC Article
    2. The intracompartmental sorting of myosin alkali light chain isoproteins reflects the sequence of developmental expression as determined by double epitope-tagging competition. Komiyama M, et al. J Cell Sci, 1996 Aug. PMID 8856505
    3. Three myosin V structures delineate essential features of chemo-mechanical transduction. Coureux PD, et al. EMBO J, 2004 Nov 24. PMID 15510214, Free PMC Article
    4. The interaction of IQGAPs with calmodulin-like proteins. Pathmanathan S, et al. Biochem Soc Trans, 2011 Apr. PMID 21428964
    5. Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms. Seidel U, et al. Gene, 1988 Jun 15. PMID 2458299

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cytoskeletal motor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle filament sliding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    part_of muscle myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of unconventional myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myosin light chain 6B
    Names
    myosin alkali light chain 1 slow a
    myosin light chain 1 slow a
    myosin, light chain 6B, alkali, smooth muscle and non-muscle
    myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle
    smooth muscle and non-muscle myosin alkali light chain 6B
    smooth muscle and nonmuscle myosin light chain alkali 6B

    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.

    mRNA and Protein(s)

    1. NM_001199629.2 → NP_001186558.1  myosin light chain 6B

      See identical proteins and their annotated locations for NP_001186558.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI349553, BC014400
      Consensus CDS
      CCDS8905.1
      UniProtKB/Swiss-Prot
      P14649
      UniProtKB/TrEMBL
      A0A8Q3SIC5
      Related
      ENSP00000446643.1, ENST00000550443.5
      Conserved Domains (4) summary
      PTZ00184
      Location:58 → 207
      PTZ00184; calmodulin; Provisional
      smart00054
      Location:68 → 96
      EFh; EF-hand, calcium binding motif
      cd00051
      Location:150 → 205
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl08302
      Location:68 → 132
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_002475.5 → NP_002466.1  myosin light chain 6B

      See identical proteins and their annotated locations for NP_002466.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC034102, AI349553, BC014400
      Consensus CDS
      CCDS8905.1
      UniProtKB/Swiss-Prot
      P14649
      UniProtKB/TrEMBL
      A0A8Q3SIC5
      Related
      ENSP00000512320.1, ENST00000695999.1
      Conserved Domains (4) summary
      PTZ00184
      Location:58 → 207
      PTZ00184; calmodulin; Provisional
      smart00054
      Location:68 → 96
      EFh; EF-hand, calcium binding motif
      cd00051
      Location:150 → 205
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl08302
      Location:68 → 132
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56152587..56157982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56120192..56125594
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14649.1 GenPept UniProtKB/Swiss-Prot:P14649

    Gene LinkOut

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