MYOM1 (myomesin 1)

2003-12-01  

Identity

HGNC
MYOM1
LOCATION
18p11.31
LOCUSID
8736
ALIAS
SKELEMIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8736
MIM: 603508
HGNC: 7613
Ensembl: ENSG00000101605

Variants:

dbSNP: 8736
ClinVar: 8736
TCGA: ENSG00000101605
COSMIC: MYOM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101605ENST00000261606P52179
ENSG00000101605ENST00000356443P52179
ENSG00000101605ENST00000400569A8MX12
ENSG00000101605ENST00000581075J3KRK2

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
334527652021Knockout of MYOM1 in human cardiomyocytes leads to myocardial atrophy via impairing calcium homeostasis.10
334527652021Knockout of MYOM1 in human cardiomyocytes leads to myocardial atrophy via impairing calcium homeostasis.10
279896212017Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.20
279896212017Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.20
251521602015Induction of insulin-like growth factor 1 splice forms by subfragments of myofibrillar proteins.5
251521602015Induction of insulin-like growth factor 1 splice forms by subfragments of myofibrillar proteins.5
223478122012Superhelical architecture of the myosin filament-linking protein myomesin with unusual elastic properties.26
223478122012Superhelical architecture of the myosin filament-linking protein myomesin with unusual elastic properties.26
210695312011EH-myomesin splice isoform is a novel marker for dilated cardiomyopathy.28
212561142011A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties.28
217940302011Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.21
210695312011EH-myomesin splice isoform is a novel marker for dilated cardiomyopathy.28
212561142011A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties.28
217940302011Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.21
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

MYOM1 (myomesin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41483/myom1-(myomesin-1)