Homo sapiens Gene: MYH6
Summary
InnateDB Gene IDBG-3264.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYH6
Gene Name myosin, heavy chain 6, cardiac muscle, alpha
Synonyms alpha-MHC; ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3
Species Homo sapiens
Ensembl Gene ENSG00000197616
Encoded Proteins
myosin, heavy chain 6, cardiac muscle, alpha
myosin, heavy chain 6, cardiac muscle, alpha
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 ~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, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:23381990-23408277
Strand Reverse strand
Band q11.2
Transcripts
ENST00000356287 ENSP00000348634
ENST00000405093 ENSP00000386041
ENST00000557461
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000146 microfilament motor activity
GO:0003774 motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0019901 protein kinase binding
GO:0030898 actin-dependent ATPase activity
Biological Process
GO:0001701 in utero embryonic development
GO:0002026 regulation of the force of heart contraction
GO:0002027 regulation of heart rate
GO:0006200 ATP catabolic process
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007512 adult heart development
GO:0007522 visceral muscle development
GO:0008016 regulation of heart contraction
GO:0008217 regulation of blood pressure
GO:0030048 actin filament-based movement
GO:0030049 muscle filament sliding
GO:0030239 myofibril assembly
GO:0030509 BMP signaling pathway
GO:0043462 regulation of ATPase activity
GO:0045214 sarcomere organization
GO:0048739 cardiac muscle fiber development
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060070 canonical Wnt signaling pathway
GO:0060420 regulation of heart growth
Cellular Component
GO:0001725 stress fiber
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0005925 focal adhesion
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0032982 myosin filament
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Translocation of GLUT4 to the plasma membrane pathway
Striated Muscle Contraction pathway
Muscle contraction pathway
Membrane Trafficking pathway
KEGG
Tight junction pathway
Hypertrophic cardiomyopathy (HCM) pathway
Cardiac muscle contraction pathway
Dilated cardiomyopathy pathway
Viral myocarditis pathway
INOH
PID NCI
Cross-References
SwissProt P13533
TrEMBL A8CLL2 Q9UQV1
UniProt Splice Variant
Entrez Gene 4624
UniGene Hs.278432
RefSeq NM_002471 XM_005267694 XM_005267695 XM_006720151 XM_006720152
HUGO HGNC:7576
OMIM 160710
CCDS CCDS9600
HPRD
IMGT
EMBL AL049829 BC132667 CH471078 D00943 EU091312 EU091313 GU324919 M21664 M25140 M25141 M25142 M25162 X05632 X56181 Z20656
GenPept AAA36344 AAA60386 AAA60387 AAI32668 ABV44799 ABV44800 ADL14490 BAA00791 CAA29120 CAA39642 CAA79675 EAW66154
RNA Seq Atlas 4624