• Gene id: 284358

Gene Summary

• Gene Symbol: MAMSTR   Gene   UCSC   Ensembl
• Aliases: MASTR
• Gene name: MEF2 activating motif and SAP domain containing transcriptional regulator
• Alternate names: MEF2-activating motif and SAP domain-containing transcriptional regulator, MEF2-activating SAP transcriptional regulatory protein, likely ortholog of MEF2-activating SAP transcriptional regulator,
• Gene location: 19q13.33 (168529304: 168530633)     Exons: 1     NC_000005.10
• OMIM: 610349

Protein Summary

• Protein general information: Q6ZN01  
  • Name: MEF2 activating motif and SAP domain containing transcriptional regulator (MEF2 activating SAP transcriptional regulatory protein)
  • Length: 415  
  • Mass: 44632
  • Tissue specificity: Expressed in skeletal muscle, brain, placenta and spleen. {ECO
• Sequence:

  MTLAASSQRSQIIRSKFRSVLQLRIHRRNQEQISDPDPWISASDPPLAPALPSGTAPFLFSPGVLLPEPEYCPPW
  RSPKKESPKISQRWRESKPRGNLTYHQYMPPEPRQGSRADPQAEGSALGPPGPSLWEGTDSQQPHPRMKPSPLTP
  CPPGVPSPSPPPHKLELQTLKLEELTVSELRQQLRLRGLPVSGTKSMLLERMRGGAPPRERPKPRREDSPAGAPW
  PRLKPKALAAARRQGSVKPSAASHRPPLPRAADTPGTAPAPTPTPAPAAAPALTPSSGPGSAALTLEEELQEAIR
  RAQLLPNRGIDDILEDQVEPDDPLPPIPLDFPGSFDVLSPSPDSEGLSSVFSSSLPSPTNSSSPSPRDPTDSLDW
  LEALSGGPPLGSGPPPPSIFSADLSDSSSSRLWDLLEDPW

• Structural information:
  • Protein Domains: (172..20-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR003034  IPR036361  
  • Prosite: PS50800
  • STRING: ENSP00000324175
• Other Databases: GeneCards:  MAMSTR  Malacards:  MAMSTR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0010831	positive regulation of myotube differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
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)