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

Gene ID: 140465, updated on 3-Nov-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
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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 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

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