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

Gene ID: 4626, updated on 23-Nov-2021

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
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
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Genomic context

See MYH8 in Genome Data Viewer
Location:
17p13.1
Exon count:
40
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (10390322..10421950, complement)
105.20201022 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 Sharpr-MPRA regulatory region 3410 Neighboring gene uncharacterized LOC107985004 Neighboring gene myosin heavy chain 13 Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 4 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

Homology

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 TAS
Traceable Author Statement
more info
PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
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 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 protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
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 
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)

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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_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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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