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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
  • Skelemin 2 3
  • Myomesin (M-Protein) 1 (190kD) 3
  • Myomesin 1 (Skelemin) (185kD) 2
  • Myomesin 1 Variant 1 3
  • EH-Myomesin 3
  • Myomesin-1 3

External Ids for MYOM1 Gene

Previous GeneCards Identifiers for MYOM1 Gene

  • GC18M003315
  • GC18M003054

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 Myopathy, Myofibrillar, 5. Among its related pathways are Striated Muscle Contraction. 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 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 , fRNAdb sequence ontologies and piRNA Summary for MYOM1 Gene

Genomics for MYOM1 Gene

Regulatory Elements for MYOM1 Gene

Enhancers for MYOM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H003245 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21.1 -36.0 -35974 22 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A MEF2D METTL4 CBX3P2 MYOM1 LOC104968399 LOC101927044 MYL12B MYL12A LPIN2 EMILIN2 SMCHD1
GH18H002873 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.3 +344.9 344903 2 HDAC1 ATF1 KLF17 ZNF366 ATF7 CREM EGR2 REST TSHZ1 ZEB2 MYOM1 EMILIN2 ENSG00000252258 LPIN2 PIR35640
GH18H002975 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +238.6 238562 12 PKNOX1 FOXA2 MLX ARID4B YY1 SLC30A9 FOS SP5 MXD4 JUNB LPIN2 EMILIN2 ENSG00000252258 MYOM1 SMCHD1 TGIF1 MYL12B SNRPCP4 LOC105371963
GH18H003056 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +159.9 159883 6 PKNOX1 FOXA2 ATF1 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 ZNF143 LPIN2 ENSG00000252258 MYOM1 EMILIN2 MYL12B SMCHD1 METTL4 GC18P003050 RNU7-25P
GH18H003177 1.6 FANTOM5 Ensembl ENCODE 11.9 +40.8 40751 3 PKNOX1 ATF1 SIN3A ZNF766 ZNF143 ZNF207 ATF7 RUNX3 JUNB ZNF592 EMILIN2 TGIF1 MYOM1 ENSG00000252258 MYL12B LPIN2 LOC101927044 GC18P003094
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYOM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOM1 Gene

Chromosome:
18
Start:
3,066,807 bp from pter
End:
3,220,108 bp from pter
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

Suggested Antigen Peptide Sequences for MYOM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MYOM1: view

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

Function for MYOM1 Gene

Molecular function for MYOM1 Gene

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
UniProtKB/Swiss-Prot Function:
Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

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 23414517
GO:0008307 structural constituent of muscle TAS 7505783
GO:0019900 kinase binding 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

Clone Products

  • Applied Biological Materials Clones for MYOM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5
nucleus 3
cytosol 3

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:0030017 sarcomere IEA --
GO:0030018 Z disc IBA --
GO:0031430 M band ISS --
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

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 IEA --
GO:0006941 striated muscle contraction IBA --
GO:0007015 actin filament organization IBA --
GO:0010628 positive regulation of gene expression IMP 25152160
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

Unigene Clusters for MYOM1 Gene

Myomesin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYOM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for MYOM1 Gene

GeneLoc Exon Structure for
MYOM1
ECgene alternative splicing isoforms for
MYOM1

Expression for MYOM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MYOM1 Gene



Protein tissue co-expression partners for MYOM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYOM1 Gene:

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

Primer Products

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 33 34
  • 99.07 (n)
cow
(Bos Taurus)
Mammalia MYOM1 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOM1 34 33
  • 88.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myom1 33
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Myom1 16 34 33
  • 84.95 (n)
oppossum
(Monodelphis domestica)
Mammalia MYOM1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYOM1 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOM1 34
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12595 33
zebrafish
(Danio rerio)
Actinopterygii MYOM1 (2 of 2) 34
  • 59 (a)
OneToMany
myom1a 34
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14964 34
  • 12 (a)
ManyToMany
sls 34
  • 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)

Paralogs for MYOM1 Gene

Paralogs for MYOM1 Gene

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

genes like me logo Genes that share paralogs with MYOM1: view

Variants for MYOM1 Gene

Sequence variations from dbSNP and Humsavar for MYOM1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs751200138 Likely pathogenic 3,067,333(+) GAACA(C/T)GCTGA reference, missense
rs1143658 Likely benign 3,067,544(-) AATCT(C/G)ACTTG reference, synonymous-codon
rs139422575 Likely benign 3,188,780(+) CTTTT(C/T)TCGAA nc-transcript-variant, reference, missense
rs184721031 Likely benign 3,142,012(+) AGCTC(C/T)GGGTG nc-transcript-variant, reference, missense
rs186972208 Likely benign 3,112,408(+) GGCCT(C/G/T)GAACC reference, missense

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)

Relevant External Links for MYOM1 Gene

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

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

Disorders for MYOM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYOM1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 5
  • myofibrillar myopathy 5
- elite association - COSMIC cancer census association via MalaCards
Search MYOM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYOM1

Genetic Association Database (GAD)
MYOM1
Human Genome Epidemiology (HuGE) Navigator
MYOM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOM1
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 22 60
  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 45 60
  3. Myomesin is a molecular spring with adaptable elasticity. (PMID: 15890201) Schoenauer R … Agarkova I (Journal of molecular biology 2005) 3 22 60
  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 22 60
  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 60

Products for MYOM1 Gene

Sources for MYOM1 Gene

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