• Gene id: 8736

Gene Summary

• Gene Symbol: MYOM1   Gene   UCSC   Ensembl
• Aliases: SKELEMIN
• Gene name: myomesin 1
• Alternate names: myomesin-1, 190 kDa connectin-associated protein, 190 kDa titin-associated protein, EH-myomesin, myomesin (M-protein) 1 (190kD), myomesin 1 (skelemin) 185kDa, myomesin 1 variant 1, myomesin 1, 185kDa, myomesin family member 1,
• Gene location: 18p11.31 (3220107: 3066806)     Exons: 38     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 603535

Protein Summary

• Protein general information: P52179  
  • Name: Myomesin 1 (190 kDa connectin associated protein) (190 kDa titin associated protein) (Myomesin family member 1)
  • Length: 1685  
  • Mass: 187627
• Sequence:

  MSLPFYQRCHQHYDLSYRNKDVRSTVSHYQREKKRSAVYTQGSTAYSSRSSAAHRRESEAFRRASASSSQQQASQ
  HALSSEVSRKAASAYDYGSSHGLTDSSLLLDDYSSKLSPKPKRAKHSLLSGEEKENLPSDYMVPIFSGRQKHVSG
  ITDTEEERIKEAAAYIAQRNLLASEEGITTSKQSTASKQTTASKQSTASKQSTASKQSTASRQSTASRQSVVSKQ
  ATSALQQEETSEKKSRKVVIREKAERLSLRKTLEETETYHAKLNEDHLLHAPEFIIKPRSHTVWEKENVKLHCSI
  AGWPEPRVTWYKNQVPINVHANPGKYIIESRYGMHTLEINGCDFEDTAQYRASAMNVKGELSAYASVVVKRYKGE
  FDETRFHAGASTMPLSFGVTPYGYASRFEIHFDDKFDVSFGREGETMSLGCRVVITPEIKHFQPEIQWYRNGVPL
  SPSKWVQTLWSGERATLTFSHLNKEDEGLYTIRVRMGEYYEQYSAYVFVRDADAEIEGAPAAPLDVKCLEANKDY
  IIISWKQPAVDGGSPILGYFIDKCEVGTDSWSQCNDTPVKFARFPVTGLIEGRSYIFRVRAVNKMGIGFPSRVSE
  PVAALDPAEKARLKSRPSAPWTGQIIVTEEEPSEGIVPGPPTDLSVTEATRSYVVLSWKPPGQRGHEGIMYFVEK
  CEAGTENWQRVNTELPVKSPRFALFDLAEGKSYCFRVRCSNSAGVGEPSEATEVTVVGDKLDIPKAPGKIIPSRN
  TDTSVVVSWEESKDAKELVGYYIEASVAGSGKWEPCNNNPVKGSRFTCHGLVTGQSYIFRVRAVNAAGLSEYSQD
  SEAIEVKAAIGGGVSPDVCPALSDEPGGLTASRGRVHEASPPTFQKDALLGSKPNKPSLPSSSQNLGQTEVSKVS
  ETVQEELTPPPQKAAPQGKSKSDPLKKKTDRAPPSPPCDITCLESFRDSMVLGWKQPDKIGGAEITGYYVNYREV
  IDGVPGKWREANVKAVSEEAYKISNLKENMVYQFQVAAMNMAGLGAPSAVSECFKCEEWTIAVPGPPHSLKCSEV
  RKDSLVLQWKPPVHSGRTPVTGYFVDLKEAKAKEDQWRGLNEAAIKNVYLKVRGLKEGVSYVFRVRAINQAGVGK
  PSDLAGPVVAETRPGTKEVVVNVDDDGVISLNFECDKMTPKSEFSWSKDYVSTEDSPRLEVESKGNKTKMTFKDL
  GMDDLGIYSCDVTDTDGIASSYLIDEEELKRLLALSHEHKFPTVPVKSELAVEILEKGQVRFWMQAEKLSGNAKV
  NYIFNEKEIFEGPKYKMHIDRNTGIIEMFMEKLQDEDEGTYTFQLQDGKATNHSTVVLVGDVFKKLQKEAEFQRQ
  EWIRKQGPHFVEYLSWEVTGECNVLLKCKVANIKKETHIVWYKDEREISVDEKHDFKDGICTLLITEFSKKDAGI
  YEVILKDDRGKDKSRLKLVDEAFKELMMEVCKKIALSATDLKIQSTAEGIQLYSFVTYYVEDLKVNWSHNGSAIR
  YSDRVKTGVTGEQIWLQINEPTPNDKGKYVMELFDGKTGHQKTVDLSGQAYDEAYAEFQRLKQAAIAEKNRARVL
  GGLPDVVTIQEGKALNLTCNVWGDPPPEVSWLKNEKALASDDHCNLKFEAGRTAYFTINGVSTADSGKYGLVVKN
  KYGSETSDFTVSVFIPEEEARMAALESLKGGKKAK

• Structural information:
  • Protein Domains: (277..36-)
    1 (/note="Ig-like-C2-type)
    (396..49-)
    2 (/note="Ig-like-C2-type)
    (512..60-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (640..73-)
    2 (/note="Fibronectin-type-III)
    (/evidence="EC-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2R15 2Y23 2Y25 3RBS 5FM4 5FM5 5FM8
  • PDBsum: 2R15 2Y23 2Y25 3RBS 5FM4 5FM5 5FM8
  • DIP: 59649
  • STRING: ENSP00000348821
• Other Databases: GeneCards:  MYOM1  Malacards:  MYOM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006936	muscle contraction	IBA	biological process
GO:0006941	striated muscle contraction	IBA	biological process
GO:0019900	kinase binding	IBA	molecular function
GO:0030017	sarcomere	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0031430	M band	IBA	cellular component
GO:0045214	sarcomere organization	IBA	biological process
GO:0048739	cardiac muscle fiber development	IBA	biological process
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0071688	striated muscle myosin thick filament assembly	IBA	biological process
GO:0005865	striated muscle thin filament	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0008307	structural constituent of muscle	IBA	molecular function
GO:0030240	skeletal muscle thin filament assembly	IBA	biological process
GO:0030241	skeletal muscle myosin thick filament assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0055003	cardiac myofibril assembly	IBA	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IBA	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0031430	M band	ISS	cellular component
GO:0032982	myosin filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005863	striated muscle myosin thick filament	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0002074	extraocular skeletal muscle development	IEA	biological process
GO:0031430	M band	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0006936	muscle contraction	IEA	biological process
GO:0031430	M band	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0010628	positive regulation of gene expression	IGI	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010737	protein kinase A signaling	IMP	biological process
GO:0050714	positive regulation of protein secretion	IGI	biological process
GO:0050714	positive regulation of protein secretion	IMP	biological process
GO:0019900	kinase binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray