Version 5.4
Homo sapiens Gene: GFI1
Summary
InnateDB Gene IDBG-100280.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GFI1
Gene Name growth factor independent 1 transcription repressor
Synonyms GFI-1; GFI1A; SCN2; ZNF163
Species Homo sapiens
Ensembl Gene ENSG00000162676
Encoded Proteins
IDBP-100282
growth factor independent 1 transcription repressor
IDBP-100284
growth factor independent 1 transcription repressor
IDBP-386772
growth factor independent 1 transcription repressor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:92474762-92486876
Strand Reverse strand
Band p22.1
Transcripts
ENST00000370332 ENSP00000359357
ENST00000294702 ENSP00000294702
ENST00000427103 ENSP00000399719
ENST00000483490
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated
Total 59 [view]
Protein-Protein 50 [view]
Protein-DNA 9 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0007638 mechanosensory behavior
GO:0009996 negative regulation of cell fate specification
GO:0010956 negative regulation of calcidiol 1-monooxygenase activity
GO:0010957 negative regulation of vitamin D biosynthetic process
GO:0010977 negative regulation of neuron projection development
GO:0016032 viral process
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0034121 regulation of toll-like receptor signaling pathway
GO:0042472 inner ear morphogenesis
GO:0042491 auditory receptor cell differentiation
GO:0042660 positive regulation of cell fate specification
GO:0045165 cell fate commitment
GO:0045892 negative regulation of transcription, DNA-templated
GO:0070105 positive regulation of interleukin-6-mediated signaling pathway
GO:0071222 cellular response to lipopolysaccharide
Cellular Component
GO:0005634 nucleus
GO:0016363 nuclear matrix
GO:0016604 nuclear body
GO:0017053 transcriptional repressor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029275
View Gene Order
ENSBTAG00000016723
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
myc_represspathway
Validated targets of C-MYC transcriptional repression
Cross-References
SwissProt Q99684
TrEMBL D3DT36
UniProt Splice Variant
Entrez Gene 2672
UniGene Hs.73172
RefSeq NM_001127216 NM_001127215 NM_005263 XM_005270749
HUGO HGNC:4237
OMIM 600871
CCDS CCDS30773
HPRD 07527
IMGT
EMBL BC032751 BC074866 BC074867 CH471097 U67369
GenPept AAB37272 AAH32751 AAH74866 AAH74867 EAW73092 EAW73093 EAW73094
RNA Seq Atlas 2672

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca