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Aliases for GFI1 Gene

Aliases for GFI1 Gene

  • Growth Factor Independent 1 Transcription Repressor 2 3 5
  • Growth Factor Independent Protein 1 3 4
  • Zinc Finger Protein 163 3 4
  • ZNF163 3 4
  • Growth Factor Independence-1 3
  • Growth Factor Independent 1 2
  • GFI-1 3
  • GFI1A 3
  • SCN2 3

External Ids for GFI1 Gene

Previous HGNC Symbols for GFI1 Gene

  • ZNF163

Previous GeneCards Identifiers for GFI1 Gene

  • GC01M093408
  • GC01M092149
  • GC01M092277
  • GC01M092652
  • GC01M092712
  • GC01M092940
  • GC01M091061

Summaries for GFI1 Gene

Entrez Gene Summary for GFI1 Gene

  • 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]

GeneCards Summary for GFI1 Gene

GFI1 (Growth Factor Independent 1 Transcription Repressor) is a Protein Coding gene. Diseases associated with GFI1 include neutropenia, severe congenital 2, autosomal dominant and neutropenia, nonimmune chronic idiopathic, of adults. Among its related pathways are Dendritic Cells Developmental Lineage Pathway and Validated targets of C-MYC transcriptional repression. GO annotations related to this gene include transcription regulatory region DNA binding and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is GFI1B.

UniProtKB/Swiss-Prot for GFI1 Gene

  • Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5-TAAATCAC[AT]GCA-3 in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling. Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters. Required for the maintenance of inner ear hair cells.

Gene Wiki entry for GFI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFI1 Gene

Genomics for GFI1 Gene

Regulatory Elements for GFI1 Gene

Promoters for GFI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GFI1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GFI1 gene promoter:

Genomic Location for GFI1 Gene

Chromosome:
1
Start:
92,473,043 bp from pter
End:
92,486,876 bp from pter
Size:
13,834 bases
Orientation:
Minus strand

Genomic View for GFI1 Gene

Genes around GFI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFI1 Gene

Proteins for GFI1 Gene

  • Protein details for GFI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99684-GFI1_HUMAN
    Recommended name:
    Zinc finger protein Gfi-1
    Protein Accession:
    Q99684
    Secondary Accessions:
    • Q8N564

    Protein attributes for GFI1 Gene

    Size:
    422 amino acids
    Molecular mass:
    45297 Da
    Quaternary structure:
    • Interacts with U2AF1L4. Component of RCOR-GFI-KDM1A-HDAC complexes. Interacts directly with RCOR1, KDM1A and HDAC2 (By similarity). Also interacts with HDAC1. Interacts (via the zinc-finger domain) with ARIH2; the interaction prevents GFI1 ubiquitination and proteasomal degradation. Interacts with PIAS3; the interaction relieves the inhibitory effect of PIAS3 on STAT3-mediated transcriptional activity. Forms a complex with EHMT2 and HDAC1 to promote Lys-9 dimethylation of H3 (H3K9Me2) and repress expression of target genes. Interacts directly with EHMT2. Component of the GFI1-AJUBA-HDAC1 repressor complex. Interacts directly with AJUBA (via ITS LIM domains); the interaction results in the HDAC-dependent corepression of a subset of GFI1 target genes and, occurs independently of the SNAG domain. Interacts with SPI1; the interaction inhibits SPI1 transcriptional activity and represses SPI1-regulated macrophage-specific genes required for proper granulocyte development. Interacts with RUNX1T1; the interaction represses HDAC-mediated transcriptional activity. Interacts with RELA; the interaction occurs on liposaccharide (LPS) stimulation and controls RELA DNA binding activity and regulates endotoxin-mediated TOLL-like receptor inflammatory response. Interacts (via the C-terminal zinc fingers) with ZBTB17; the interaction results in the recruitment of GFI1 to the CDKN1A/p21 and CDKN1B promoters and repression of transcription.

neXtProt entry for GFI1 Gene

Proteomics data for GFI1 Gene at MOPED

Post-translational modifications for GFI1 Gene

  • Ubiquitinated. Ubiquitination and degradation by the proteasome is inhibited by the ubiquitin ligase, ARIH2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GFI1 Gene

No data available for DME Specific Peptides for GFI1 Gene

Domains & Families for GFI1 Gene

Protein Domains for GFI1 Gene

Suggested Antigen Peptide Sequences for GFI1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99684

UniProtKB/Swiss-Prot:

GFI1_HUMAN :
  • Zinc fingers 3, 4 and 5 are required for DNA-binding and for interaction with SPI1.
  • Contains 6 C2H2-type zinc fingers.
Domain:
  • Zinc fingers 3, 4 and 5 are required for DNA-binding and for interaction with SPI1.
  • The SNAG domain of GFIs is required for nuclear location and for interaction with some corepressors.
Similarity:
  • Contains 6 C2H2-type zinc fingers.
genes like me logo Genes that share domains with GFI1: view

Function for GFI1 Gene

Molecular function for GFI1 Gene

GENATLAS Biochemistry:
growth factor independence 1 (independent from IL2 for growth),expressed in bone marrow,associated with a constitutional translocation from a patient with stage 4S neuroblastoma
UniProtKB/Swiss-Prot Function:
Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5-TAAATCAC[AT]GCA-3 in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling. Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters. Required for the maintenance of inner ear hair cells.
UniProtKB/Swiss-Prot Induction:
Down-regulated by TGFB1.
genes like me logo Genes that share phenotypes with GFI1: view

Human Phenotype Ontology for GFI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GFI1 Gene

MGI Knock Outs for GFI1:

Animal Model Products

miRNA for GFI1 Gene

miRTarBase miRNAs that target GFI1

Transcription Factor Targets for GFI1 Gene

Selected GeneGlobe predicted Target genes for GFI1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function and HOMER Transcription for GFI1 Gene

Localization for GFI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFI1 Gene

Nucleus. Note=Colocalizes with PIAS3 and RUNX1T1 in nuclear dots.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFI1 Gene COMPARTMENTS Subcellular localization image for GFI1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for GFI1 Gene

Pathways & Interactions for GFI1 Gene

genes like me logo Genes that share pathways with GFI1: view

Pathways by source for GFI1 Gene

Gene Ontology (GO) - Biological Process for GFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS 8441411
GO:0010957 negative regulation of vitamin D biosynthetic process IC 15947108
GO:0010977 negative regulation of neuron projection development IDA 19026687
GO:0016032 viral process TAS 8441411
GO:0030099 myeloid cell differentiation IBA --
genes like me logo Genes that share ontologies with GFI1: view

No data available for SIGNOR curated interactions for GFI1 Gene

Drugs & Compounds for GFI1 Gene

(2) Drugs for GFI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for GFI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GFI1: view

Transcripts for GFI1 Gene

Unigene Clusters for GFI1 Gene

Growth factor independent 1 transcription repressor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFI1 Gene

No ASD Table

Relevant External Links for GFI1 Gene

GeneLoc Exon Structure for
GFI1
ECgene alternative splicing isoforms for
GFI1

Expression for GFI1 Gene

mRNA expression in normal human tissues for GFI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GFI1 Gene

This gene is overexpressed in Whole Blood (x8.7), Pancreas (x7.2), Spleen (x4.7), and Small Intestine - Terminal Ileum (x4.4).

SOURCE GeneReport for Unigene cluster for GFI1 Gene Hs.73172

genes like me logo Genes that share expression patterns with GFI1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GFI1 Gene

Orthologs for GFI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GFI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFI1 36
  • 100 (a)
OneToOne
GFI1 35
  • 99.84 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GFI1 36
  • 93 (a)
OneToOne
GFI1 35
  • 89.44 (n)
  • 92.62 (a)
dog
(Canis familiaris)
Mammalia GFI1 35
  • 90.05 (n)
  • 93.36 (a)
GFI1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfi1 16
Gfi1 35
  • 84.76 (n)
  • 87.68 (a)
Gfi1 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFI1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFI1 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfi1 35
  • 85.15 (n)
  • 87.68 (a)
chicken
(Gallus gallus)
Aves GFI1 35
  • 73.91 (n)
  • 79.8 (a)
GFI1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFI1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfi1 35
  • 69.03 (n)
  • 74.8 (a)
zebrafish
(Danio rerio)
Actinopterygii gfi1ab 36
  • 68 (a)
OneToOne
gfi1ab 35
  • 64.87 (n)
  • 70.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ly 37
  • 86 (a)
sens-2 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pag-3 36
  • 38 (a)
OneToMany
pag-3 37
  • 76 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 77 (a)
OneToMany
Species with no ortholog for GFI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GFI1 Gene

ENSEMBL:
Gene Tree for GFI1 (if available)
TreeFam:
Gene Tree for GFI1 (if available)

Paralogs for GFI1 Gene

Paralogs for GFI1 Gene

(273) SIMAP similar genes for GFI1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GFI1: view

Variants for GFI1 Gene

Sequence variations from dbSNP and Humsavar for GFI1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1359490 -- 92,488,298(-) CAAGA(A/G)TCTGT upstream-variant-2KB
rs4970714 -- 92,475,800(+) CCTAG(A/G)GAGTC utr-variant-3-prime
rs6603975 -- 92,485,682(+) GGCCC(A/G)GGAAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs6676141 -- 92,473,660(+) CCCTT(C/T)CCTGC utr-variant-3-prime
rs6689470 -- 92,485,653(+) CGCGC(A/G)CTCAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GFI1 Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV Deletion 23290073
nsv523354 CNV Gain 19592680

Variation tolerance for GFI1 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 51.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFI1 Gene

HapMap Linkage Disequilibrium report
GFI1
Human Gene Mutation Database (HGMD)
GFI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFI1 Gene

Disorders for GFI1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GFI1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital 2, autosomal dominant
  • severe congenital neutropenia, autosomal dominant, 2
neutropenia, nonimmune chronic idiopathic, of adults
  • dominant nonimmune chronic idiopathic neutropenia of adults
severe congenital neutropenia autosomal dominant
  • autosomal dominant severe congenital neutropenia
idiopathic neutropenia
  • ni-cina
neutropenia
  • leukopenia
- elite association - COSMIC cancer census association via MalaCards
Search GFI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GFI1_HUMAN
  • Neutropenia, severe congenital 2, autosomal dominant (SCN2) [MIM:613107]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269 PubMed:12778173}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]: Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients. {ECO:0000269 PubMed:12778173}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GFI1

Genetic Association Database (GAD)
GFI1
Human Genome Epidemiology (HuGE) Navigator
GFI1
Tumor Gene Database (TGDB):
GFI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFI1
genes like me logo Genes that share disorders with GFI1: view

No data available for Genatlas for GFI1 Gene

Publications for GFI1 Gene

  1. Gfi1 ubiquitination and proteasomal degradation is inhibited by the ubiquitin ligase Triad1. (PMID: 17646546) Marteijn J.A. … Van der Reijden B.A. (Blood 2007) 3 4 23 67
  2. Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. (PMID: 7789186) Bell D.W. … Testa J.R. (Cytogenet. Cell Genet. 1995) 2 3 23
  3. A role of Miz-1 in Gfi-1-mediated transcriptional repression of CDKN1A. (PMID: 20190815) Liu Q. … Dong F. (Oncogene 2010) 3 23
  4. A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. (PMID: 20075157) Khandanpour C. … MAPrAPy T. (Blood 2010) 3 23
  5. The growth factor independence-1 (Gfi1) is overexpressed in chronic myelogenous leukemia. (PMID: 19887785) Huang M. … Zhang Y. (Acta Haematol. 2010) 3 23

Products for GFI1 Gene

Sources for GFI1 Gene

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