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Aliases for MYOM1 Gene

Aliases for MYOM1 Gene

  • Myomesin 1 2 3
  • 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 3 6
  • Myomesin (M-Protein) 1 (190kD) 3
  • Myomesin 1 (Skelemin) (185kD) 2
  • EH-Myomesin 3
  • Myomesin-1 3
  • Skelemin 2

External Ids for MYOM1 Gene

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. 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 MYBPC2.

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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOM1 Gene

Genomics for MYOM1 Gene

Genomic Location for MYOM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYOM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOM1 Gene

Regulatory Elements 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

Proteomics data for MYOM1 Gene at MOPED

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 for MYOM1 Gene

Gene Families for MYOM1 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing

UniProtKB/Swiss-Prot:

MYOM1_HUMAN
Domain:
  • Contains 5 fibronectin type-III domains.:
    • P52179
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.:
    • P52179
genes like me logo Genes that share domains with MYOM1: view

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

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:0042802 identical protein binding IPI 18059477
GO:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with MYOM1: view

miRNA for MYOM1 Gene

miRTarBase miRNAs that target MYOM1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for MYOM1 Gene COMPARTMENTS Subcellular localization image for MYOM1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for MYOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005863 striated muscle myosin thick filament TAS 6537951
GO:0030017 sarcomere --
GO:0031430 M band ISS --
genes like me logo Genes that share ontologies with MYOM1: view

Pathways for MYOM1 Gene

SuperPathways for MYOM1 Gene

Superpath 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:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006936 muscle contraction IEA --
GO:0098779 activation of mitophagy in response to mitochondrial depolarization IMP 22020285
genes like me logo Genes that share ontologies with MYOM1: view

Transcripts for MYOM1 Gene

Unigene Clusters for MYOM1 Gene

Myomesin 1:
Representative Sequences:

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 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 (17.4), Heart - Left Ventricle (16.5), and Heart - Atrial Appendage (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYOM1 Gene

SOURCE GeneReport for Unigene cluster for MYOM1 Gene Hs.464469

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

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 36
  • 99.07 (n)
  • 98.93 (a)
MYOM1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYOM1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOM1 36
  • 88.7 (n)
  • 89.32 (a)
MYOM1 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myom1 36
  • 84.95 (n)
  • 87.91 (a)
Myom1 16
Myom1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYOM1 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 82 (a)
OneToMany
-- 37
  • 76 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
-- 37
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Myom1 36
  • 85.08 (n)
  • 88.02 (a)
chicken
(Gallus gallus)
Aves MYOM1 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOM1 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12595 36
zebrafish
(Danio rerio)
Actinopterygii MYOM1 (2 of 2) 37
  • 59 (a)
OneToMany
myom1a 37
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14964 37
  • 12 (a)
ManyToMany
sls 37
  • 2 (a)
ManyToMany
Species with no ortholog for MYOM1:
  • 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

Selected 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 MAF
rs729673 -- 3,067,735(-) CCTCA(C/G)ATGTT intron-variant
rs754629 -- 3,088,084(-) TATTC(A/G)CACAG intron-variant
rs894564 -- 3,221,741(-) TGGAA(C/T)AGATT upstream-variant-2KB
rs894565 -- 3,221,662(-) AAAAT(A/G)TCTAG upstream-variant-2KB
rs948298 -- 3,089,524(-) TAGGC(A/C)GTGGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2676971 CNV Deletion 23128226
nsv131766 CNV Insertion 16902084
nsv509681 CNV Insertion 20534489
esv1010829 CNV Insertion 20482838
esv2716685 CNV Deletion 23290073
esv2661000 CNV Deletion 23128226
nsv458013 CNV Loss 19166990
nsv909317 CNV Gain 21882294

Relevant External Links for MYOM1 Gene

HapMap Linkage Disequilibrium report
MYOM1
Human Gene Mutation Database (HGMD)
MYOM1

Disorders for MYOM1 Gene

Relevant External Links for MYOM1

Genetic Association Database (GAD)
MYOM1
Human Genome Epidemiology (HuGE) Navigator
MYOM1
genes like me logo Genes that share disorders with MYOM1: view

No data available for UniProtKB/Swiss-Prot 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 E.J. … Hopman A.H. (Genomics 1998) 2 3 23
  2. Myomesin is a molecular spring with adaptable elasticity. (PMID: 15890201) Schoenauer R. … Agarkova I. (J. Mol. Biol. 2005) 3 23
  3. 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. … Fuerst D.O. (J. Cell Sci. 1993) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PMID: 15188056) Li T.-B. … Gong L.-M. (Acta Biochim. Biophys. Sin. 2004) 4 23

Products for MYOM1 Gene

Sources for MYOM1 Gene

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