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    MYH8 myosin heavy chain 8 [ Homo sapiens (human) ]

    Gene ID: 4626, updated on 3-Apr-2024

    Summary

    Official Symbol
    MYH8provided by HGNC
    Official Full Name
    myosin heavy chain 8provided by HGNC
    Primary source
    HGNC:HGNC:7578
    See related
    Ensembl:ENSG00000133020 MIM:160741; AllianceGenome:HGNC:7578
    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
    DA7; MyHC-pn; gtMHC-F; MyHC-peri
    Summary
    Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]
    Expression
    Biased expression in esophagus (RPKM 10.4), prostate (RPKM 1.7) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See MYH8 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10390322..10421950, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10297824..10333264, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10293639..10325267, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RPS27A pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11916 Neighboring gene uncharacterized LOC107985004 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:10195435-10196634 Neighboring gene Sharpr-MPRA regulatory region 3410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10212735-10213249 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10232009-10232227 Neighboring gene myosin heavy chain 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10295275-10296474 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10303826-10305025 Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10350156-10351355 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10353850-10355049 Neighboring gene myosin heavy chain 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10395090-10396289 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10399610-10400809 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10407979-10409178 Neighboring gene myosin heavy chain 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables myosin light chain binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables myosin phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables structural constituent of muscle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in muscle filament sliding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of muscle myosin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in myosin filament IC
    Inferred by Curator
    more info
    PubMed 
    located_in sarcomere IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    myosin-8
    Names
    fetal-myosin heavy chain
    myHC-perinatal
    myosin heavy chain, skeletal muscle, perinatal
    myosin, heavy chain 8, skeletal muscle, perinatal
    myosin, heavy polypeptide 8, skeletal muscle, perinatal

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013015.1 RefSeqGene

      Range
      5001..36629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002472.3NP_002463.2  myosin-8

      See identical proteins and their annotated locations for NP_002463.2

      Status: REVIEWED

      Source sequence(s)
      AC005291, AC005323, DB142109, M36769, Z38133
      Consensus CDS
      CCDS11153.1
      UniProtKB/Swiss-Prot
      P13535, Q14910
      UniProtKB/TrEMBL
      V9HWC1
      Related
      ENSP00000384330.2, ENST00000403437.2
      Conserved Domains (8) summary
      cd14918
      Location:102769
      MYSc_Myh8; class II myosin heavy chain 8, motor domain
      pfam00063
      Location:90769
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8491926
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3875
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam06273
      Location:10421099
      eIF-4B; Plant specific eukaryotic initiation factor 4B
      pfam07851
      Location:17411828
      TMPIT; TMPIT-like protein
      cl19219
      Location:15051581
      DUF342; Protein of unknown function (DUF342)
      cl19764
      Location:13751510
      COG6; Conserved oligomeric complex COG6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      10390322..10421950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      10297824..10333264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316237.1XP_054172212.1  myosin-8 isoform X1

      UniProtKB/Swiss-Prot
      P13535, Q14910