MYH1 (myosin heavy chain 1)

2014-11-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
HEL71,MYHSA1,MYHa,MyHC-2X/D,MyHC-2x
FUSION GENES

Other Information

Locus ID:

NCBI: 4619
MIM: 160730
HGNC: 7567
Ensembl: ENSG00000109061

Variants:

dbSNP: 4619
ClinVar: 4619
TCGA: ENSG00000109061
COSMIC: MYH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109061ENST00000226207P12882

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
337553182021MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.5
337553182021MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.5
255678082015Molecular determinants of force production in human skeletal muscle fibers: effects of myosin isoform expression and cross-sectional area.29
260592072015Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.2
255678082015Molecular determinants of force production in human skeletal muscle fibers: effects of myosin isoform expression and cross-sectional area.29
260592072015Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.2
223374922012Myosin heavy chain composition of the human genioglossus muscle.11
224898802012Wearing of complete dentures reduces slow fibre and enhances hybrid fibre fraction in masseter muscle.1
223374922012Myosin heavy chain composition of the human genioglossus muscle.11
224898802012Wearing of complete dentures reduces slow fibre and enhances hybrid fibre fraction in masseter muscle.1
214708882011The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.5
214708882011The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.5
199321672010A common mutation of the MYH gene is associated with increased DNA oxidation and age-related diseases.6
203575872010Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.8
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

MYH1 (myosin heavy chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70606/myh1-(myosin-heavy-chain-1)