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MYOM1 Gene(Protein Coding)

Myomesin 1

GCID:
GC18M003056
GIFtS:
56
Genes Participants
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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
  • Myomesin (M-Protein) 1 (190kD) 3
  • Myomesin 1 (Skelemin) (185kD) 2
  • EH-Myomesin 3
  • Skelemin 2
  • SKELEMIN 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 FNDC3A.

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

Products:

  1. Regulatory Element

Regulatory Elements for MYOM1 Gene

Enhancers for MYOM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYOM1 on UCSC Golden Path with GeneCards custom track

Promoters for MYOM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYOM1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MYOM1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for MYOM1 Gene

Proteins for MYOM1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MYOM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYOM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYOM1 Gene

Domains & Families for MYOM1 Gene

Gene Families for MYOM1 Gene

HGNC:

Protein Domains for MYOM1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P52179

UniProtKB/Swiss-Prot:

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

Function for MYOM1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with MYOM1: view

Phenotypes for MYOM1 Gene

GenomeRNAi human phenotypes for MYOM1:
genes like me logo Genes that share phenotypes with MYOM1: view

Animal Model Products

miRNA for MYOM1 Gene

miRTarBase miRNAs that target MYOM1

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for MYOM1 Gene COMPARTMENTS Subcellular localization image for MYOM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for MYOM1 Gene

Pathways & Interactions for MYOM1 Gene

SuperPathways for MYOM1 Gene

PathCards logoMore details on SuperPathways for MYOM1
Superpath Contained pathways
1 Striated Muscle Contraction
Striated Muscle Contraction
.76
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:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MYOM1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for MYOM1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYOM1 Gene

Myomesin 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
MYOM1

Expression for MYOM1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for MYOM1 Gene

mRNA expression in normal human tissues for MYOM1 Gene
mRNA expression by BioGPS for MYOM1 GenemRNA expression by GTEx 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



SOURCE GeneReport for Unigene cluster for MYOM1 Gene Hs.464469

genes like me logo Genes that share expression patterns with MYOM1: view

Protein tissue co-expression partners for MYOM1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
 Mammalia MYOM1 35
  • 88.7 (n)
  • 89.32 (a)
MYOM1 36
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Myom1 35
  • 84.95 (n)
  • 87.91 (a)
Myom1 16
Myom1 36
  • 87 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia MYOM1 35
  • 99.07 (n)
  • 98.93 (a)
MYOM1 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Myom1 35
  • 85.08 (n)
  • 88.02 (a)
cow
(Bos Taurus)
 Mammalia MYOM1 36
  • 89 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MYOM1 36
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 82 (a)
 OneToMany
-- 36
  • 76 (a)
 OneToMany
-- 36
  • 79 (a)
 OneToMany
-- 36
  • 74 (a)
 OneToMany
-- 36
  • 70 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves MYOM1 36
  • 68 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MYOM1 36
  • 72 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.12595 35
zebrafish
(Danio rerio)
 Actinopterygii MYOM1 (2 of 2) 36
  • 59 (a)
 OneToMany
myom1a 36
  • 57 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG14964 36
  • 12 (a)
 ManyToMany
sls 36
  • 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

(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
VAR_047221 -
rs1962519 - 3,188,978(+) TTTAG(A/G)TGTTG nc-transcript-variant, reference, missense
rs2230165 - 3,188,875(-) GTCCA(C/T)GGCAT nc-transcript-variant, reference, missense
rs8099021 - 3,176,042(+) CTTAC(A/C/G)CATTA nc-transcript-variant, reference, missense
rs9807556 - 3,151,738(+) CGGGC(A/T)CGGAA nc-transcript-variant, reference, missense

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

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

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: 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 E.J. … Hopman A.H. (Genomics 1998) 2 3 23 67
  2. Myomesin is a molecular spring with adaptable elasticity. (PMID: 15890201) Schoenauer R. … Agarkova I. (J. Mol. Biol. 2005) 3 23
  3. Induction of insulin-like growth factor 1 splice forms by subfragments of myofibrillar proteins. (PMID: 25152160) Kravchenko I.V. … Popov V.O. (Mol. Cell. Endocrinol. 2015) 3
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3
  5. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. (PMID: 23414517) Blandin G. … Richard I. (Skelet Muscle 2013) 3

Products for MYOM1 Gene

Sources for MYOM1 Gene

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