MYOM1 (myomesin 1)

Gene

• Entrez ID: 8736
• Gene name: Myomesin 1
• Gene symbol: MYOM1
• Synonyms (NCBI Gene): SKELEMIN
• Chromosome: 18
• Chromosome location: 18p11.31
• Summary: 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 appa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77613865	T>G	Benign, likely-pathogenic	Intron variant
rs374670754	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs751200138	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019361	hsa-miR-148b-3p	Microarray	17612493
MIRT1170304	hsa-miR-3140-3p	CLIP-seq
MIRT1170305	hsa-miR-4765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002074	Process	Extraocular skeletal muscle development	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	23414517, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005863	Component	Striated muscle myosin thick filament	TAS	6537951
GO:0008307	Function	Structural constituent of muscle	TAS	7505783
GO:0010628	Process	Positive regulation of gene expression	IGI	25152160
GO:0010628	Process	Positive regulation of gene expression	IMP	25152160
GO:0010737	Process	Protein kinase A signaling	IMP	25152160
GO:0019900	Function	Kinase binding	IBA
GO:0019900	Function	Kinase binding	IPI	12972258
GO:0030017	Component	Sarcomere	IEA
GO:0031430	Component	M band	IBA
GO:0031430	Component	M band	IEA
GO:0031430	Component	M band	ISS
GO:0032982	Component	Myosin filament	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	18059477, 22347812
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045214	Process	Sarcomere organization	IBA
GO:0050714	Process	Positive regulation of protein secretion	IGI	25152160
GO:0050714	Process	Positive regulation of protein secretion	IMP	25152160

Other IDs

• MIM: 603508
• HGNC: 7613
• e!Ensembl: ENSG00000101605

Protein

• UniProt ID: P52179
• Protein name: Myomesin-1 (190 kDa connectin-associated protein) (190 kDa titin-associated protein) (Myomesin family member 1)
• Protein function: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
• PDB: 2R15, 2Y23, 2Y25, 3RBS, 5FM4, 5FM5, 5FM8, 6T3O, 6ZVA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	277 → 369	Immunoglobulin I-set domain	Domain
  PF07679	I-set	405 → 499	Immunoglobulin I-set domain	Domain
  PF00041	fn3	511 → 596	Fibronectin type III domain	Domain
  PF00041	fn3	639 → 724	Fibronectin type III domain	Domain
  PF00041	fn3	740 → 823	Fibronectin type III domain	Domain
  PF00041	fn3	935 → 1023	Fibronectin type III domain	Domain
  PF00041	fn3	1040 → 1127	Fibronectin type III domain	Domain
  PF07679	I-set	1136 → 1223	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1362 → 1444	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1574 → 1663	Immunoglobulin I-set domain	Domain

• Sequence:

  MSLPFYQRCHQHYDLSYRNKDVRSTVSHYQREKKRSAVYTQGSTAYSSRSSAAHRRESEA
  FRRASASSSQQQASQHALSSEVSRKAASAYDYGSSHGLTDSSLLLDDYSSKLSPKPKRAK
  HSLLSGEEKENLPSDYMVPIFSGRQKHVSGITDTEEERIKEAAAYIAQRNLLASEEGITT
  SKQSTASKQTTASKQSTASKQSTASKQSTASRQSTASRQSVVSKQATSALQQEETSEKKS
  RKVVIREKAERLSLRKTLEETETYHAKLNEDHLLHAPEFIIKPRSHTVWEKENVKLHCSI
  AGWPEPRVTWYKNQVPINVHANPGKYIIESRYGMHTLEINGCDFEDTAQYRASAMNVKGE
  LSAYASVVVKRYKGEFDETRFHAGASTMPLSFGVTPYGYASRFEIHFDDKFDVSFGREGE
  TMSLGCRVVITPEIKHFQPEIQWYRNGVPLSPSKWVQTLWSGERATLTFSHLNKEDEGLY
  TIRVRMGEYYEQYSAYVFVRDADAEIEGAPAAPLDVKCLEANKDYIIISWKQPAVDGGSP
  ILGYFIDKCEVGTDSWSQCNDTPVKFARFPVTGLIEGRSYIFRVRAVNKMGIGFPSRVSE
  PVAALDPAEKARLKSRPSAPWTGQIIVTEEEPSEGIVPGPPTDLSVTEATRSYVVLSWKP
  PGQRGHEGIMYFVEKCEAGTENWQRVNTELPVKSPRFALFDLAEGKSYCFRVRCSNSAGV
  GEPSEATEVTVVGDKLDIPKAPGKIIPSRNTDTSVVVSWEESKDAKELVGYYIEASVAGS
  GKWEPCNNNPVKGSRFTCHGLVTGQSYIFRVRAVNAAGLSEYSQDSEAIEVKAAIGGGVS
  PDVCPALSDEPGGLTASRGRVHEASPPTFQKDALLGSKPNKPSLPSSSQNLGQTEVSKVS
  ETVQEELTPPPQKAAPQGKSKSDPLKKKTDRAPPSPPCDITCLESFRDSMVLGWKQPDKI
  GGAEITGYYVNYREVIDGVPGKWREANVKAVSEEAYKISNLKENMVYQFQVAAMNMAGLG
  APSAVSECFKCEEWTIAVPGPPHSLKCSEVRKDSLVLQWKPPVHSGRTPVTGYFVDLKEA
  KAKEDQWRGLNEAAIKNVYLKVRGLKEGVSYVFRVRAINQAGVGKPSDLAGPVVAETRPG
  TKEVVVNVDDDGVISLNFECDKMTPKSEFSWSKDYVSTEDSPRLEVESKGNKTKMTFKDL
  GMDDLGIYSCDVTDTDGIASSYLIDEEELKRLLALSHEHKFPTVPVKSELAVEILEKGQV
  RFWMQAEKLSGNAKVNYIFNEKEIFEGPKYKMHIDRNTGIIEMFMEKLQDEDEGTYTFQL
  QDGKATNHSTVVLVGDVFKKLQKEAEFQRQEWIRKQGPHFVEYLSWEVTGECNVLLKCKV
  ANIKKETHIVWYKDEREISVDEKHDFKDGICTLLITEFSKKDAGIYEVILKDDRGKDKSR
  LKLVDEAFKELMMEVCKKIALSATDLKIQSTAEGIQLYSFVTYYVEDLKVNWSHNGSAIR
  YSDRVKTGVTGEQIWLQINEPTPNDKGKYVMELFDGKTGHQKTVDLSGQAYDEAYAEFQR
  LKQAAIAEKNRARVLGGLPDVVTIQEGKALNLTCNVWGDPPPEVSWLKNEKALASDDHCN
  LKFEAGRTAYFTINGVSTADSGKYGLVVKNKYGSETSDFTVSVFIPEEEARMAALESLKG
  GKKAK

• Sequence length: 1685

Pathways

KEGG:

Cytoskeleton in muscle cells

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar, GenCC
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Nonimmune Hydrops Fetalis	non-immune hydrops fetalis	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Atrophy	Associate	33452765
Cardiomyopathy Dilated	Associate	28935576
Ectodermal Dysplasia	Associate	26115030
Muscular Diseases	Associate	33452765
Myotonic Dystrophy	Associate	21794030
Neoplasms	Associate	28427185