• Gene id: 2672

Gene Summary

• Gene Symbol: GFI1   Gene   UCSC   Ensembl
• Aliases: GFI-1, GFI1A, SCN2, ZNF163
• Gene name: growth factor independent 1 transcriptional repressor
• Alternate names: zinc finger protein Gfi-1, growth factor independence-1, growth factor independent 1 transcription repressor, growth factor independent protein 1, zinc finger protein 163,
• Gene location: 1p22.1 (92486924: 92473042)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofacto
• OMIM: 602194

Protein Summary

• Protein general information: Q99684  
  • Name: Zinc finger protein Gfi 1 (Growth factor independent protein 1) (Zinc finger protein 163)
  • Length: 422  
  • Mass: 45297
• Sequence:

  MPRSFLVKSKKAHSYHQPRSPGPDYSLRLENVPAPSRADSTSNAGGAKAEPRDRLSPESQLTEAPDRASASPDSC
  EGSVCERSSEFEDFWRPPSPSASPASEKSMCPSLDEAQPFPLPFKPYSWSGLAGSDLRHLVQSYRPCGALERGAG
  LGLFCEPAPEPGHPAALYGPKRAAGGAGAGAPGSCSAGAGATAGPGLGLYGDFGSAAAGLYERPTAAAGLLYPER
  GHGLHADKGAGVKVESELLCTRLLLGGGSYKCIKCSKVFSTPHGLEVHVRRSHSGTRPFACEMCGKTFGHAVSLE
  QHKAVHSQERSFDCKICGKSFKRSSTLSTHLLIHSDTRPYPCQYCGKRFHQKSDMKKHTFIHTGEKPHKCQVCGK
  AFSQSSNLITHSRKHTGFKPFGCDLCGKGFQRKVDLRRHRETQHGLK

• Structural information:
  • Interpro: IPR029840  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • DIP: 38452
  • STRING: ENSP00000359357
• Other Databases: GeneCards:  GFI1  Malacards:  GFI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0070105	positive regulation of interleukin-6-mediated signaling pathway	IDA	biological process
GO:0034121	regulation of toll-like receptor signaling pathway	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0010977	negative regulation of neuron projection development	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IEP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	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:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS	biological process
GO:0016032	viral process	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:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0010957	negative regulation of vitamin D biosynthetic process	IC	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010956	negative regulation of calcidiol 1-monooxygenase activity	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Neutropenic disorders	KEGG:H00100
Neutropenic disorders	KEGG:H00100
Myelodysplastic syndrome	PMID:18371060
leukemia	PMID:20723283
acute myeloid leukemia	PMID:20075157
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