• Gene id: 84232

Gene Summary

• Gene Symbol: MAF1   Gene   UCSC   Ensembl
• Gene name: MAF1 homolog, negative regulator of RNA polymerase III
• Alternate names: repressor of RNA polymerase III transcription MAF1 homolog, MAF1 negative regulator of RNA polymerase III, homolog of yeast MAF1,
• Gene location: 8q24.3 (144104460: 144107610)     Exons: 8     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and repress
• OMIM: 114130

Protein Summary

• Protein general information: Q9H063  
  • Name: Repressor of RNA polymerase III transcription MAF1 homolog
  • Length: 256  
  • Mass: 28771
• Sequence:

  MKLLENSSFEAINSQLTVETGDAHIIGRIESYSCKMAGDDKHMFKQFCQEGQPHVLEALSPPQTSGLSPSRLSKS
  QGGEEEGPLSDKCSRKTLFYLIATLNESFRPDYDFSTARSHEFSREPSLSWVVNAVNCSLFSAVREDFKDLKPQL
  WNAVDEEICLAECDIYSYNPDLDSDPFGEDGSLWSFNYFFYNKRLKRIVFFSCRSISGSTYTPSEAGNELDMELG
  EEEVEEESRSGGSGAEETSTMEEDRVPVICI

• Structural information:
  • Interpro: IPR015257  IPR038564  
  • PDB: 3NR5
  • PDBsum: 3NR5
  • DIP: 53028
  • STRING: ENSP00000318604
• Other Databases: GeneCards:  MAF1  Malacards:  MAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016479	negative regulation of transcription by RNA polymerase I	IDA	biological process
GO:0016480	negative regulation of transcription by RNA polymerase III	IDA	biological process
GO:0000994	RNA polymerase III core binding	IBA	molecular function
GO:0001002	RNA polymerase III type 1 promoter sequence-specific DNA binding	IBA	molecular function
GO:0001003	RNA polymerase III type 2 promoter sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0016480	negative regulation of transcription by RNA polymerase III	IBA	biological process
GO:0001006	RNA polymerase III type 3 promoter sequence-specific DNA binding	IBA	molecular function
GO:0016480	negative regulation of transcription by RNA polymerase III	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016480	negative regulation of transcription by RNA polymerase III	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016480	negative regulation of transcription by RNA polymerase III	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001003	RNA polymerase III type 2 promoter sequence-specific DNA binding	IDA	molecular function
GO:0001006	RNA polymerase III type 3 promoter sequence-specific DNA binding	IDA	molecular function
GO:0016480	negative regulation of transcription by RNA polymerase III	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001002	RNA polymerase III type 1 promoter sequence-specific DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881