MYOM1 - myomesin 1 Gene

Also Known as SKELEMIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8736

About MYOM1

Cytogenetic location: 18p11.31 Genomic coordinates (GRCh38): 18:3,066,807-3,247,376 (from NCBI)

This gene has 6 transcripts (splice variants), 281 orthologues and 11 paralogues. Biased expression in heart (RPKM 154.6), prostate (RPKM 11.8) and 2 other tissues.

Summary

The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and Other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

MYOM1 Products (2)

mRNA	Protein	Name
NM_003803.4	NP_003794.3	myomesin-1 isoform a
NM_019856.2	NP_062830.1	myomesin-1 isoform b

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	18059477	GOA
enables kinase binding	IPI IPI: Inferred from physical interaction	12972258	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23414517	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of gene expression	IGI IGI: Inferred from genetic interaction	25152160	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25152160	GOA
involved in positive regulation of protein secretion	IGI IGI: Inferred from genetic interaction	25152160	GOA
involved in positive regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	25152160	GOA
involved in protein kinase A signaling	IMP IMP: Inferred from mutant phenotype	25152160	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYOM1 Protein Structure

I-set

fn3

I-set

0
300
600
900
1200
1500
1685 a.a.

Protein Preferred Names	Protein Names
myomesin-1	190 kDa connectin-associated protein

MYOM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYOM1	P52179	DYSF	Homo sapiens	O75923	Y2H Fragment Pooling	23414517
Intra	MYOM1	P52179	DYSF	Homo sapiens	O75923	PLA	23414517
Intra	MYOM1	P52179	C1QTNF9	Homo sapiens	P0C862	Y2H Fragment Pooling	23414517
Intra	MYOM1	P52179	MYOM1	Homo sapiens	P52179	CD	18059477
Intra	MYOM1	P52179	MYOM1	Homo sapiens	P52179	X-Ray Diffraction	18059477
Intra	MYOM1	P52179	ANKRD28	Homo sapiens	O15084	Y2H Fragment Pooling	23414517
Intra	MYOM1	P52179	MYOM1	Homo sapiens	P52179	GMS	18059477
Intra	MYOM1	P52179	MYOM1	Homo sapiens	P52179	Light Scattering	18059477
Intra	MYOM1	P52179	TTN	Homo sapiens	Q8WZ42	Y2H Fragment Pooling	23414517

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Scapuloperoneal Myopathy
Myopathy, Myofibrillar, 5	Myofibrillar Myopathy 5 MFM5 Myopathy, Myofibrillar, Filamin C-Related Filaminopathy, Autosomal Dominant Filaminopathy Muscle Filaminopathy Autosomal Dominant Filaminopathy Mfm Filamin C-Related Myopathy Myofibrillar Filamin C-Related Myopathy, Myofibrillar, Type 5
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08960	MYOM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MYOM1	MGD	MGI:1341430
Rattus norvegicus	MYOM1	RGD	RGD:631436
Canis familiaris	MYOM1	VGNC	VGNC:43581
Bos taurus	MYOM1	VGNC	VGNC:50225
Felis catus	MYOM1	VGNC	VGNC:68405
Macaca mulatta	MYOM1	VGNC	VGNC:75123
Others	MYOM1	NCBI