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 o... See more...

Aliases for MYOM1 Gene

Aliases for MYOM1 Gene

  • Myomesin 1 2 3 5
  • 190 KDa Connectin-Associated Protein 3 4
  • 190 KDa Titin-Associated Protein 3 4
  • Myomesin 1 (Skelemin) 185kDa 2 3
  • Myomesin Family Member 1 3 4
  • Myomesin 1, 185kDa 2 3
  • Myomesin-1 3 4
  • Myomesin (M-Protein) 1 (190kD) 3
  • Myomesin 1 (Skelemin) (185kD) 2
  • Myomesin 1 Variant 1 3
  • EH-Myomesin 3
  • SKELEMIN 3
  • Skelemin 2

External Ids for MYOM1 Gene

Previous GeneCards Identifiers for MYOM1 Gene

  • GC18M003315
  • GC18M003054
  • GC18M003056

Summaries for MYOM1 Gene

Entrez Gene Summary for MYOM1 Gene

  • 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]

GeneCards Summary for MYOM1 Gene

MYOM1 (Myomesin 1) is a Protein Coding gene. Diseases associated with MYOM1 include Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy. Among its related pathways are Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and structural constituent of muscle. An important paralog of this gene is MYOM2.

UniProtKB/Swiss-Prot Summary for MYOM1 Gene

  • Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

Gene Wiki entry for MYOM1 Gene

Additional gene information for MYOM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYOM1 Gene

Genomics for MYOM1 Gene

GeneHancer (GH) Regulatory Elements for MYOM1 Gene

Promoters and enhancers for MYOM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J003245 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 521.1 -36.0 -35955 22.1 HNRNPK FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A NRF1 POLR2G MYOM1 MYL12B MYL12A SMCHD1 LOC104968399 ENSG00000265399 METTL4 LPIN2 EMILIN2 TGIF1
GH18J003216 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 505.6 +1.5 1529 4.4 ZNF217 USF1 NCOR1 KDM6A CLOCK RFX1 TGIF2 SKI MYC TEAD1 MYOM1 LOC101927044 ENSG00000265399
GH18J002975 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +238.6 238561 12 EP300 FOXK2 CTCF TCF12 POLR2G NCOR1 RBAK JUND FOS KDM6A LPIN2 lnc-MYOM1-5 EMILIN2 ENSG00000252258 MYOM1 SMCHD1 TGIF1 MYL12B ENSG00000266397 LOC105371963
GH18J002873 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.2 +343.4 343407 5.8 ZSCAN5C RBAK ZIC2 CTBP1 MYC ATF2 ZNF341 WT1 ZBTB17 MAX MYOM1 EMILIN2 ENSG00000252258 LPIN2 piR-56022-234 piR-42641
GH18J003177 Enhancer 1.2 FANTOM5 ENCODE 11.9 +40.8 40750 3.7 RXRA SIN3A SP1 EP300 ZBTB11 RELA MEF2C REST TRIM22 POLR2A EMILIN2 TGIF1 MYOM1 ENSG00000252258 MYL12B LPIN2 ENSG00000265399 lnc-LPIN2-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYOM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYOM1

Top Transcription factor binding sites by QIAGEN in the MYOM1 gene promoter:
  • AML1a
  • C/EBPalpha
  • Evi-1
  • FOXO4
  • GATA-1
  • Lmo2
  • Max1
  • p300
  • YY1

Genomic Locations for MYOM1 Gene

Genomic Locations for MYOM1 Gene
chr18:3,066,807-3,220,108
(GRCh38/hg38)
Size:
153,302 bases
Orientation:
Minus strand
chr18:3,066,805-3,220,106
(GRCh37/hg19)
Size:
153,302 bases
Orientation:
Minus strand

Genomic View for MYOM1 Gene

Genes around MYOM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOM1 Gene

Proteins for MYOM1 Gene

  • Protein details for MYOM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52179-MYOM1_HUMAN
    Recommended name:
    Myomesin-1
    Protein Accession:
    P52179
    Secondary Accessions:
    • Q14BD6
    • Q6H969
    • Q6ZUU0

    Protein attributes for MYOM1 Gene

    Size:
    1685 amino acids
    Molecular mass:
    187627 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with TTN/titin (By similarity). Interacts with PNKD.
    SequenceCaution:
    • Sequence=CAA48833.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYOM1 Gene

    Alternative splice isoforms for MYOM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYOM1 Gene

Post-translational modifications for MYOM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOM1 Gene

No data available for DME Specific Peptides for MYOM1 Gene

Domains & Families for MYOM1 Gene

Gene Families for MYOM1 Gene

Protein Domains for MYOM1 Gene

Blocks:
  • Immunoglobulin C-2 type
  • Fibronectin type III repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOM1 Gene

GenScript: Design optimal peptide antigens:
  • Myomesin family member 1 (MYOM1_HUMAN)
genes like me logo Genes that share domains with MYOM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYOM1 Gene

Function for MYOM1 Gene

Molecular function for MYOM1 Gene

UniProtKB/Swiss-Prot Function:
Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
GENATLAS Biochemistry:
sarcomeric M-band protein,myomesin 1,binding the globular head of titin and the central region of light meromyosin,Ig superfamily,potentially involved in the assembly and/or stabilization of myofibrils,expressed in adult muscle

Phenotypes From GWAS Catalog for MYOM1 Gene

Gene Ontology (GO) - Molecular Function for MYOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 23414517
GO:0008307 structural constituent of muscle IBA,TAS 21873635
GO:0019900 kinase binding IBA,IPI 12972258
GO:0042802 identical protein binding IPI 18059477
GO:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with MYOM1: view
genes like me logo Genes that share phenotypes with MYOM1: view

Animal Model Products

CRISPR Products

miRNA for MYOM1 Gene

miRTarBase miRNAs that target MYOM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYOM1 Gene

Localization for MYOM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOM1 Gene

Cytoplasm, myofibril, sarcomere, M line.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOM1 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MYOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005863 striated muscle myosin thick filament TAS 6537951
GO:0005865 striated muscle thin filament IBA 21873635
GO:0030017 sarcomere IBA 21873635
GO:0030018 Z disc IBA 21873635
genes like me logo Genes that share ontologies with MYOM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYOM1 Gene

Pathways & Interactions for MYOM1 Gene

PathCards logo

SuperPathways for MYOM1 Gene

SuperPathway Contained pathways
1 Striated Muscle Contraction
genes like me logo Genes that share pathways with MYOM1: view

Pathways by source for MYOM1 Gene

1 BioSystems pathway for MYOM1 Gene

Gene Ontology (GO) - Biological Process for MYOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002074 extraocular skeletal muscle development IEA --
GO:0006936 muscle contraction IBA 21873635
GO:0010628 positive regulation of gene expression IMP 25152160
GO:0010737 protein kinase A signaling IMP 25152160
GO:0030240 skeletal muscle thin filament assembly IBA 21873635
genes like me logo Genes that share ontologies with MYOM1: view

No data available for SIGNOR curated interactions for MYOM1 Gene

Drugs & Compounds for MYOM1 Gene

No Compound Related Data Available

Transcripts for MYOM1 Gene

mRNA/cDNA for MYOM1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOM1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYOM1 Gene

No ASD Table

Relevant External Links for MYOM1 Gene

GeneLoc Exon Structure for
MYOM1

Expression for MYOM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYOM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOM1 Gene

This gene is overexpressed in Muscle - Skeletal (x17.4), Heart - Left Ventricle (x16.5), and Heart - Atrial Appendage (x6.8).

Protein differential expression in normal tissues from HIPED for MYOM1 Gene

This gene is overexpressed in Heart (50.2) and Fetal heart (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYOM1 Gene



Protein tissue co-expression partners for MYOM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYOM1

SOURCE GeneReport for Unigene cluster for MYOM1 Gene:

Hs.464469

Evidence on tissue expression from TISSUES for MYOM1 Gene

  • Muscle(4.7)
  • Heart(3.3)
genes like me logo Genes that share expression patterns with MYOM1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOM1 Gene

Orthologs for MYOM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYOM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYOM1 31 30
  • 99.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYOM1 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOM1 31 30
  • 88.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myom1 30
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Myom1 17 31 30
  • 84.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MYOM1 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOM1 31
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOM1 31
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12595 30
zebrafish
(Danio rerio)
Actinopterygii MYOM1 (2 of 2) 31
  • 59 (a)
OneToMany
myom1a 31
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14964 31
  • 12 (a)
ManyToMany
sls 31
  • 2 (a)
ManyToMany
Species where no ortholog for MYOM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOM1 Gene

ENSEMBL:
Gene Tree for MYOM1 (if available)
TreeFam:
Gene Tree for MYOM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYOM1: view image

Paralogs for MYOM1 Gene

(3) SIMAP similar genes for MYOM1 Gene using alignment to 4 proteins:

  • MYOM1_HUMAN
  • A8MX12_HUMAN
  • J3KRK2_HUMAN
  • L8E928_HUMAN
genes like me logo Genes that share paralogs with MYOM1: view

Variants for MYOM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYOM1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
229013 Uncertain Significance: not specified 3,168,816(-) C/CCGTTTCTGTACCA SPLICE_ACCEPTOR_VARIANT
567886 Uncertain Significance: Hypertrophic cardiomyopathy 3,164,326(-) G/A MISSENSE_VARIANT
568977 Uncertain Significance: Hypertrophic cardiomyopathy 3,126,717(-) C/A MISSENSE_VARIANT
569222 Uncertain Significance: Hypertrophic cardiomyopathy 3,168,934(-) C/T MISSENSE_VARIANT
569518 Uncertain Significance: Hypertrophic cardiomyopathy 3,193,920(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYOM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MYOM1 Gene

Variant ID Type Subtype PubMed ID
dgv1537n106 CNV tandem duplication 24896259
esv1010829 CNV insertion 20482838
esv2661000 CNV deletion 23128226
esv2676971 CNV deletion 23128226
esv2716685 CNV deletion 23290073
esv3416065 CNV duplication 20981092
esv3573898 CNV gain 25503493
esv3641584 CNV loss 21293372
esv3641585 CNV gain 21293372
esv3641586 CNV gain 21293372
nsv1062247 CNV gain 25217958
nsv1065984 CNV loss 25217958
nsv1119462 CNV insertion 24896259
nsv1129600 CNV tandem duplication 24896259
nsv1134689 CNV deletion 24896259
nsv131766 CNV insertion 16902084
nsv458013 CNV loss 19166990
nsv474460 CNV novel sequence insertion 20440878
nsv479501 CNV novel sequence insertion 20440878
nsv509681 CNV insertion 20534489
nsv576313 CNV loss 21841781
nsv576314 CNV loss 21841781
nsv576315 CNV loss 21841781

Variation tolerance for MYOM1 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.84; 97.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYOM1 Gene

Human Gene Mutation Database (HGMD)
MYOM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOM1 Gene

Disorders for MYOM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYOM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypertrophic cardiomyopathy
  • cardiomyopathy, hypertrophic, familial
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
myopathy, myofibrillar, 5
  • mfm5
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
scapuloperoneal myopathy
- elite association - COSMIC cancer census association via MalaCards
Search MYOM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYOM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYOM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYOM1 Gene

Publications for MYOM1 Gene

  1. Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32. (PMID: 9806852) Speel EJ … Hopman AH (Genomics 1998) 2 3 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Myomesin is a molecular spring with adaptable elasticity. (PMID: 15890201) Schoenauer R … Agarkova I (Journal of molecular biology 2005) 3 23 54
  4. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PMID: 15188056) Li TB … Gong LM (Acta biochimica et biophysica Sinica 2004) 4 23 54
  5. The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins. (PMID: 7505783) Vinkemeier U … Fürst DO (Journal of cell science 1993) 3 4 54

Products for MYOM1 Gene

Sources for MYOM1 Gene