• Gene id: 23764

Gene Summary

• Gene Symbol: MAFF   Gene   UCSC   Ensembl
• Aliases: U-MAF, hMafF
• Gene name: MAF bZIP transcription factor F
• Alternate names: transcription factor MafF, v-maf avian musculoaponeurotic fibrosarcoma oncogene family protein F, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F,
• Gene location: 22q13.1 (38201931: 38216510)     Exons: 4     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with o
• OMIM: 604877

Protein Summary

• Protein general information: Q9ULX9  
  • Name: Transcription factor MafF (U Maf) (V maf musculoaponeurotic fibrosarcoma oncogene homolog F)
  • Length: 164  
  • Mass: 17760
  • Tissue specificity: Expressed in the term myometrium and kidney.
• Sequence:

  MSVDPLSSKALKIKRELSENTPHLSDEALMGLSVRELNRHLRGLSAEEVTRLKQRRRTLKNRGYAASCRVKRVCQ
  KEELQKQKSELEREVDKLARENAAMRLELDALRGKCEALQGFARSVAAARGPATLVAPASVITIVKSTPGSGSGP
  AHGPDPAHGPASCS

• Structural information:
  • Protein Domains: (51..11-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR004827  IPR004826  IPR033531  IPR008917  IPR024874  
  • Prosite: PS50217
  • STRING: ENSP00000345393
• Other Databases: GeneCards:  MAFF  Malacards:  MAFF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045604	regulation of epidermal cell differentiation	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007567	parturition	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0045604	regulation of epidermal cell differentiation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881