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MYH6 myosin heavy chain 6 [ Homo sapiens (human) ]

Gene ID: 4624, updated on 20-Dec-2019

Summary

Official Symbol
MYH6provided by HGNC
Official Full Name
myosin heavy chain 6provided by HGNC
Primary source
HGNC:HGNC:7576
See related
Ensembl:ENSG00000197616 MIM:160710
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
ASD3; MYHC; SSS3; CMH14; MYHCA; CMD1EE; alpha-MHC
Summary
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
Expression
Restricted expression toward heart (RPKM 1273.8) See more
Orthologs

Genomic context

See MYH6 in Genome Data Viewer
Location:
14q11.2
Exon count:
39
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23381990..23408277, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23849942..23878836, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene interleukin 25 Neighboring gene CKLF like MARVEL transmembrane domain containing 5 Neighboring gene microRNA 208a Neighboring gene VISTA enhancer hs2155 Neighboring gene myosin heavy chain 7 Neighboring gene myosin heavy chain associated RNA transcript Neighboring gene microRNA 208b

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?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.
NHGRI GWA Catalog
Genome-wide association analysis identifies multiple loci related to resting heart rate.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

Go to the HIV-1, Human Interaction Database

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
actin-dependent ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microfilament motor activity IDA
Inferred from Direct Assay
more info
PubMed 
microfilament motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
myosin phosphatase activity TAS
Traceable Author Statement
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
adult heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cardiac muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle hypertrophy in response to stress IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
muscle filament sliding IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
myofibril assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart growth IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate IDA
Inferred from Direct Assay
more info
PubMed 
regulation of the force of heart contraction IDA
Inferred from Direct Assay
more info
PubMed 
regulation of the force of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
 
striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
striated muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
visceral muscle development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
myofibril ISS
Inferred from Sequence or Structural Similarity
more info
 
myosin complex TAS
Traceable Author Statement
more info
PubMed 
myosin filament IEA
Inferred from Electronic Annotation
more info
 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myosin-6
Names
myHC-alpha
myosin heavy chain, cardiac muscle alpha isoform
myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

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_023444.1 RefSeqGene

    Range
    5001..31288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_389

mRNA and Protein(s)

  1. NM_002471.3NP_002462.2  myosin-6

    See identical proteins and their annotated locations for NP_002462.2

    Status: REVIEWED

    Source sequence(s)
    BC132667, BX501231, D00943, DA566231, M21664
    Consensus CDS
    CCDS9600.1
    UniProtKB/Swiss-Prot
    P13533
    Related
    ENSP00000386041.3, ENST00000405093.8
    Conserved Domains (8) summary
    cd01377
    Location:99768
    MYSc_class_II; class II myosins, motor domain
    pfam00063
    Location:87768
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8481925
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3572
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam07851
    Location:17401832
    TMPIT; TMPIT-like protein
    cl00459
    Location:12971409
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl00817
    Location:11341295
    MM_CoA_mutase; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM)-like family; contains proteins similar to MCM, and the large subunit of Streptomyces coenzyme B12-dependent isobutyryl-CoA mutase (ICM). MCM catalyzes the isomerization of ...
    cl02488
    Location:8811043
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    23381990..23408277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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