• Gene id: 9794

Gene Summary

• Gene Symbol: MAML1   Gene   UCSC   Ensembl
• Aliases: Mam-1, Mam1
• Gene name: mastermind like transcriptional coactivator 1
• Alternate names: mastermind-like protein 1, mastermind homolog, mastermind-like 1,
• Gene location: 5q35.3 (179732821: 179777282)     Exons: 5     NC_000005.10
• Gene summary(Entrez): This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of
• OMIM: 606420

Protein Summary

• Protein general information: Q92585  
  • Name: Mastermind like protein 1 (Mam 1)
  • Length: 1016  
  • Mass: 108054
  • Tissue specificity: Widely expressed with highest levels in heart, pancreas, peripheral blood leukocytes and spleen. {ECO
• Sequence:

  MVLPTCPMAEFALPRHSAVMERLRRRIELCRRHHSTCEARYEAVSPERLELERQHTFALHQRCIQAKAKRAGKHR
  QPPAATAPAPAAPAPRLDAADGPEHGRPATHLHDTVKRNLDSATSPQNGDQQNGYGDLFPGHKKTRREAPLGVAI
  SSNGLPPASPLGQSDKPSGADALQSSGKHSLGLDSLNKKRLADSSLHLNGGSNPSESFPLSLNKELKQEPVEDLP
  CMITGTVGSISQSNLMPDLNLNEQEWKELIEELNRSVPDEDMKDLFNEDFEEKKDPESSGSATQTPLAQDINIKT
  EFSPAAFEQEQLGSPQVRAGSAGQTFLGPSSAPVSTDSPSLGGSQTLFHTSGQPRADNPSPNLMPASAQAQNAQR
  ALAGVVLPSQGPGGASELSSAHQLQQIAAKQKREQMLQNPQQATPAPAPGQMSTWQQTGPSHSSLDVPYPMEKPA
  SPSSYKQDFTNSKLLMMPSVNKSSPRPGGPYLQPSHVNLLSHQPPSNLNQNSANNQGSVLDYGNTKPLSHYKADC
  GQGSPGSGQSKPALMAYLPQQLSHISHEQNSLFLMKPKPGNMPFRSLVPPGQEQNPSSVPVQAQATSVGTQPPAV
  SVASSHNSSPYLSSQQQAAVMKQHQLLLDQQKQREQQQKHLQQQQFLQRQQHLLAEQEKQQFQRHLTRPPPQYQD
  PTQGSFPQQVGQFTGSSAAVPGMNTLGPSNSSCPRVFPQAGNLMPMGPGHASVSSLPTNSGQQDRGVAQFPGSQN
  MPQSSLYGMASGITQIVAQPPPQATNGHAHIPRQTNVGQNTSVSAAYGQNSLGSSGLSQQHNKGTLNPGLTKPPV
  PRVSPAMGGQNSSWQHQGMPNLSGQTPGNSNVSPFTAASSFHMQQQAHLKMSSPQFSQAVPNRPMAPMSSAAAVG
  SLLPPVSAQQRTSAPAPAPPPTAPQQGLPGLSPAGPELGAFSQSPASQMGGRAGLHCTQAYPVRTAGQELPFAYS
  GQPGGSGLSSVAGHTDLIDSLLKNRTSEEWMSDLDDLLGSQ

• Structural information:
  • Interpro: IPR019082  
  • PDB: 2F8X 3NBN 3V79 6SMV
  • PDBsum: 2F8X 3NBN 3V79 6SMV
  • DIP: 29920
  • STRING: ENSP00000292599
• Other Databases: GeneCards:  MAML1  Malacards:  MAML1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0007221	positive regulation of transcription of Notch receptor target	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0010831	positive regulation of myotube differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060928	atrioventricular node cell development	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	IEA	biological process
GO:0045445	myoblast differentiation	IEA	biological process
GO:0051149	positive regulation of muscle cell differentiation	IEA	biological process
GO:0003162	atrioventricular node development	ISS	biological process
GO:0060928	atrioventricular node cell development	ISS	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0007219	Notch signaling pathway	IDA	biological process
GO:0002193	MAML1-RBP-Jkappa- ICN1 complex	IDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0010831	positive regulation of myotube differentiation	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042605	peptide antigen binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04658	Th1 and Th2 cell differentiation
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray