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

Gene ID: 4626, updated on 13-Feb-2019

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

Genomic context

See MYH8 in Genome Data Viewer
Location:
17p13.1
Exon count:
40
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (10390325..10421950, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10293642..10325267, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S27a pseudogene 1 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament binding TAS
Traceable Author Statement
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microfilament motor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
myosin light chain binding TAS
Traceable Author Statement
more info
PubMed 
myosin phosphatase activity TAS
Traceable Author Statement
more info
 
structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction NAS
Non-traceable Author Statement
more info
PubMed 
muscle filament sliding IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
muscle myosin complex NAS
Non-traceable Author Statement
more info
PubMed 
myosin filament IC
Inferred by Curator
more info
PubMed 
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)

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..36626
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    10390325..10421950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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