• Gene id: 84665

Gene Summary

• Gene Symbol: MYPN   Gene   UCSC   Ensembl
• Aliases: CMD1DD, CMH22, MYOP, NEM11, RCM4
• Gene name: myopalladin
• Alternate names: myopalladin, sarcomeric protein myopalladin, 145 kDa (MYOP),
• Gene location: 10q21.3 (68087906: 68212016)     Exons: 16     NC_000010.11
• Gene summary(Entrez): Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and ac
• OMIM: 608517

Protein Summary

• Protein general information: Q86TC9  
  • Name: Myopalladin (145 kDa sarcomeric protein)
  • Length: 1320  
  • Mass: 145257
  • Tissue specificity: Expressed in adult skeletal muscle and fetal heart. {ECO
• Sequence:

  MQDDSIEASTSISQLLRESYLAETRHRGNNERSRAEPSSNPCHFGSPSGAAEGGGGQDDLPDLSAFLSQEELDES
  VNLARLAINYDPLEKADETQARKRLSPDQMKHSPNLSFEPNFCQDNPRSPTSSKESPQEAKRPQYCSETQSKKVF
  LNKAADFIEELSSLFKSHSSKRIRPRACKNHKSKLESQNKVMQENSSSFSDLSERRERSSVPIPIPADTRDNEVN
  HALEQQEAKRREAEQAASEAAGGDTTPGSSPSSLYYEEPLGQPPRFTQKLRSREVPEGTRVQLDCIVVGIPPPQV
  RWYCEGKELENSPDIHIVQAGNLHSLTIAEAFEEDTGRYSCFASNIYGTDSTSAEIYIEGVSSSDSEGDPNKEEM
  NRIQKPNEVSSPPTTSAVIPPAVPQAQHLVAQPRVATIQQCQSPTNYLQGLDGKPIIAAPVFTKMLQNLSASEGQ
  LVVFECRVKGAPSPKVEWYREGTLIEDSPDFRILQKKPRSMAEPEEICTLVIAEVFAEDSGCFTCTASNKYGTVS
  SIAQLHVRGNEDLSNNGSLHSANSTTNLAAIEPQPSPPHSEPPSVEQPPKPKLEGVLVNHNEPRSSSRIGLRVHF
  NLPEDDKGSEASSEAGVVTTRQTRPDSFQERFNGQATKTPEPSSPVKEPPPVLAKPKLDSTQLQQLHNQVLLEQH
  QLQNPPPSSPKEFPFSMTVLNSNAPPAVTTSSKQVKAPSSQTFSLARPKYFFPSTNTTAATVAPSSSPVFTLSST
  PQTIQRTVSKESLLVSHPSVQTKSPGGLSIQNEPLPPGPTEPTPPPFTFSIPSGNQFQPRCVSPIPVSPTSRIQN
  PVAFLSSVLPSLPAIPPTNAMGLPRSAPSMPSQGLAKKNTKSPQPVNDDNIRETKNAVIRDLGKKITFSDVRPNQ
  QEYKISSFEQRLMNEIEFRLERTPVDESDDEIQHDEIPTGKCIAPIFDKRLKHFRVTEGSPVTFTCKIVGIPVPK
  VYWFKDGKQISKRNEHCKMRREGDGTCSLHIESTTSDDDGNYTIMAANPQGRISCSGHLMVQSLPIRSRLTSAGQ
  SHRGRSRVQERDKEPLQERFFRPHFLQAPGDMVAHEGRLCRLDCKVSGLPPPELTWLLNGQPVLPDASHKMLVRE
  TGVHSLLIDPLTQRDAGTYKCIATNKTGQNSFSLELSVVAKEVKKAPVILEKLQNCGVPEGHPVRLECRVIGMPP
  PVFYWKKDNETIPCTRERISMHQDTTGYACLLIQPAKKSDAGWYTLSAKNEAGIVSCTARLDIYAQWHHQIPPPM
  SVRPSGSRYGSLTSKGLDIFSAFSSMESTMVYSCSSRSVVESDEL

• Structural information:
  • Protein Domains: (269..35-)
    (/note="Ig-like-1)
    (435..53-)
    (/note="Ig-like-2)
    (945..102-)
    (/note="Ig-like-3)
    (1073..116-)
    (/note="Ig-like-4)
    (1172..126-)
    (/note="Ig-like-5")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR013098  IPR003599   IPR003598  
  • Prosite: PS50835
  • STRING: ENSP00000351790
• Other Databases: GeneCards:  MYPN  Malacards:  MYPN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0030424	axon	IBA	cellular component
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0031674	I band	IEA	cellular component
GO:0008092	cytoskeletal protein binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051371	muscle alpha-actinin binding	IPI	molecular function
GO:0051371	muscle alpha-actinin binding	IPI	molecular function
GO:0031674	I band	IDA	cellular component
GO:0030018	Z disc	IDA	colocalizes with
GO:0005634	nucleus	ISS	cellular component
GO:0045214	sarcomere organization	IMP	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030018	Z disc	IDA	cellular component

Diseases

Associated diseases	References
Nemaline myopathy	KEGG:H00698
Nemaline myopathy	KEGG:H00698
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)