Aliases for MYOM1 Gene
Aliases for MYOM1 Gene
External Ids for MYOM1 Gene
- HGNC: 7613
- Entrez Gene: 8736
- Ensembl: ENSG00000101605
- OMIM: 603508
- UniProtKB: P52179
Previous GeneCards Identifiers for MYOM1 Gene
- GC18M003315
- GC18M003054
Summaries 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. 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 for MYOM1 Gene
-
Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
Additional gene information for MYOM1 Gene
- Monarch Initiative
- Search for MYOM1 at DataMed
- Search for MYOM1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOM1 Gene
Genomics for MYOM1 Gene
GeneHancer (GH) Regulatory Elements for MYOM1 Gene
Promoters and enhancers for MYOM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MYOM1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for MYOM1 Gene
Genes around MYOM1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18p11.31 by Ensembl
- 18p11.31 by Entrez Gene
- 18p11.31 by HGNC
MYOM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for MYOM1 Gene
Post-translational modifications for MYOM1 Gene
No Post-translational modifications
Other Protein References for MYOM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Assay Products
No data available for DME Specific Peptides for MYOM1 Gene
Domains & Families for MYOM1 Gene
Gene Families for MYOM1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
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
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
| 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 | -- |
Phenotypes for MYOM1 Gene
- GenomeRNAi human phenotypes for MYOM1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
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-
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miRNA for MYOM1 Gene
- miRTarBase miRNAs that target MYOM1
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-
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 3 |
| cytosol | 3 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYOM1 Gene
Pathways & Interactions for MYOM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Striated Muscle Contraction | ||
Pathways by source for MYOM1 Gene
1 BioSystems pathway for MYOM1 Gene
Interacting Proteins for MYOM1 Gene
Selected Interacting proteins:
P52179-MYOM1_HUMAN
ENSP00000348821
for MYOM1 Gene via
IID
STRING
UniProtKB
MINT
| 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 |
No data available for SIGNOR curated interactions for MYOM1 Gene
Transcripts for MYOM1 Gene
mRNA/cDNA for MYOM1 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (65) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for MYOM1
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Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available MYOM1 gene related products
- orf clones - Search results for available MYOM1 gene related products
- Applied Biological Materials Clones for MYOM1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MYOM1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Cardiomyocyte-like progenitor cells(Uosaki H et. al. 2011)
-
Dermis (Integumentary System)
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Dorsal Dermis
- Lung (Respiratory System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Skeletal Muscle (Muscoskeletal System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of MYOM1 Gene:
MYOM1SOURCE GeneReport for Unigene cluster for MYOM1 Gene:
Hs.464469Evidence on tissue expression from TISSUES for MYOM1 Gene
- Muscle(4.7)
- Heart(3.3)
Primer Products
-
OriGene qPCR primer pairs for MYOM1
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MYOM1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | MYOM1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MYOM1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Myom1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Myom1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MYOM1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | MYOM1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MYOM1 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12595 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | MYOM1 (2 of 2) 34 |
|
OneToMany | |
| myom1a 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14964 34 |
|
ManyToMany | |
| sls 34 |
|
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)
Paralogs for MYOM1 Gene
Variants for MYOM1 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1014448013 | likely-benign, Hypertrophic cardiomyopathy | 3,135,677(-) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1054418598 | likely-benign, Hypertrophic cardiomyopathy | 3,142,067(-) | A/C | intron_variant | |
| rs1060502820 | uncertain-significance, Hypertrophic cardiomyopathy | 3,079,331(-) | A/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1060504723 | likely-benign, Hypertrophic cardiomyopathy | 3,173,987(-) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1060504724 | likely-benign, Hypertrophic cardiomyopathy | 3,116,403(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOM1 Gene
Disorders for MYOM1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, myofibrillar, 5 |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for MYOM1 Gene
Publications for MYOM1 Gene
- 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 58
- 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 44 58
- Myomesin is a molecular spring with adaptable elasticity. (PMID: 15890201) Schoenauer R … Agarkova I (Journal of molecular biology 2005) 3 22 58
- 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 58
- 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 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 51 available MYOM1 Antibodies ranked by validation data
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Sources for MYOM1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
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