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 autosom... See more...

Aliases for GFI1 Gene

Aliases for GFI1 Gene

  • Growth Factor Independent 1 Transcriptional Repressor 2 3 5
  • Growth Factor Independent Protein 1 3 4
  • Zinc Finger Protein Gfi-1 3 4
  • Zinc Finger Protein 163 3 4
  • ZNF163 3 4
  • GFI-1 2 3
  • GFI1A 2 3
  • Growth Factor Independent 1 Transcription Repressor 3
  • Growth Factor Independence-1 3
  • Growth Factor Independent 1 2
  • SCN2 3
  • GFI1 5

External Ids for GFI1 Gene

Previous HGNC Symbols for GFI1 Gene

  • ZNF163

Previous GeneCards Identifiers for GFI1 Gene

  • GC01M093408
  • GC01M092149
  • GC01M092277
  • GC01M092412
  • 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 Transcriptional 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 Validated targets of C-MYC transcriptional repression and Development and heterogeneity of the ILC family. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is GFI1B.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GFI1 Gene

Genomics for GFI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GFI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J092482 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 603.8 +2.3 2324 6 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF692 RCOR2 POLR2A BACH1 GFI1 MN308751 lnc-EVI5-1 DIPK1A MTF2 EVI5 CCDC18-AS1 SNORA66 GLMN SNORD21
GH01J092487 Enhancer 0.4 dbSUPER 600.7 -1.0 -969 0.4 EZH2 MAFK TAL1 GFI1 RF00017-270 EVI5
GH01J091608 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 5.7 +876.3 876324 5.2 TEAD4 SCRT2 SP1 EGR1 CTBP1 BRCA1 ESR1 NR3C1 CEBPB FOS GFI1 piR-31936-005 piR-61945-028 CDC7 TGFBR3
GH01J091613 Enhancer 0.6 Ensembl 4.8 +872.5 872525 2 SP1 BRCA1 CEBPB CHD2 RCOR1 GTF2F1 MAX DEK MXI1 EP300 piR-61945-028 GFI1 piR-32559-016 CDC7 TGFBR3
GH01J092536 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 2.1 -50.7 -50746 3.1 SP1 GATAD2A TFE3 POLR2A BACH1 JUND STAT3 PRDM1 RELA SMAD5 SNORA66 EVI5 CCDC18-AS1 SNORD21 RPL5 DIPK1A RPAP2 GLMN GFI1 piR-47402-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GFI1

Top Transcription factor binding sites by QIAGEN in the GFI1 gene promoter:
  • AML1a
  • STAT3

Genomic Locations for GFI1 Gene

Genomic Locations for GFI1 Gene
chr1:92,473,043-92,486,925
(GRCh38/hg38)
Size:
13,883 bases
Orientation:
Minus strand
chr1:92,940,318-92,952,433
(GRCh37/hg19)
Size:
12,116 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

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

Gene Families for GFI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GFI1 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature
ProtoNet:

Suggested Antigen Peptide Sequences for GFI1 Gene

GenScript: Design optimal peptide antigens:
  • Growth factor independent 1, isoform CRA_a (D3DT36_HUMAN)
  • Zinc finger protein 163 (GFI1_HUMAN)

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.
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.
genes like me logo Genes that share domains with GFI1: view

Function for GFI1 Gene

Molecular function for GFI1 Gene

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.
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

Phenotypes From GWAS Catalog for GFI1 Gene

Gene Ontology (GO) - Molecular Function for GFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA, IBA 15947108
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 19506020
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with GFI1: view
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

CRISPR 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFI1

No data available for Enzyme Numbers (IUBMB) 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFI1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12874834
GO:0005654 nucleoplasm IBA 21873635
GO:0016363 nuclear matrix IDA 12874834
GO:0016604 nuclear body IDA 11060035
GO:0017053 transcriptional repressor complex IDA 12874834
genes like me logo Genes that share ontologies with GFI1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

SIGNOR curated interactions for GFI1 Gene

Inactivates:
Is activated by:
Is inactivated by:

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:0000122 negative regulation of transcription by RNA polymerase II IBA,IDA 15947108
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010956 negative regulation of calcidiol 1-monooxygenase activity IDA 15947108
GO:0010957 negative regulation of vitamin D biosynthetic process IC 15947108
genes like me logo Genes that share ontologies with GFI1: view

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

mRNA/cDNA for GFI1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFI1

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

No ASD Table

Relevant External Links for GFI1 Gene

GeneLoc Exon Structure for
GFI1

Expression for GFI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GFI1

SOURCE GeneReport for Unigene cluster for GFI1 Gene:

Hs.73172

Evidence on tissue expression from TISSUES for GFI1 Gene

  • Bone marrow(4.6)
  • Lung(4.4)
  • Nervous system(2.6)
  • Blood(2.6)
  • Lymph node(2.6)
  • Liver(2.5)
  • Heart(2.5)
  • Spleen(2.4)
  • Kidney(2.3)
  • Intestine(2.3)
  • Skin(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GFI1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • lymphatic
  • nervous
Regions:
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with GFI1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 30 31
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GFI1 30 31
  • 90.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GFI1 30 31
  • 89.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gfi1 30
  • 85.15 (n)
Mouse
(Mus musculus)
Mammalia Gfi1 30 17 31
  • 84.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GFI1 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GFI1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GFI1 30 31
  • 73.91 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GFI1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gfi1 30
  • 69.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii gfi1ab 30 31
  • 64.87 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Ly 32
  • 86 (a)
sens-2 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pag-3 31 32
  • 38 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 77 (a)
OneToMany
Species where no ortholog for GFI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GFI1: view image

Paralogs for GFI1 Gene

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

  • GFI1_HUMAN
  • D3DT36_HUMAN
genes like me logo Genes that share paralogs with GFI1: view

Variants for GFI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GFI1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
636791 Uncertain Significance: not provided 92,480,654(-) A/G MISSENSE_VARIANT
643429 Uncertain Significance: Severe congenital neutropenia 2, autosomal dominant 92,480,784(-) G/A SYNONYMOUS_VARIANT
643828 Uncertain Significance: Severe congenital neutropenia 2, autosomal dominant 92,480,705(-) C/G MISSENSE_VARIANT
644864 Uncertain Significance: Severe congenital neutropenia 2, autosomal dominant 92,480,947(-) C/A MISSENSE_VARIANT
644949 Uncertain Significance: Severe congenital neutropenia 2, autosomal dominant 92,480,418(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GFI1 Gene

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

Variant ID Type Subtype PubMed ID
dgv126n106 CNV deletion 24896259
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)

Additional Variant Information for GFI1 Gene

Human Gene Mutation Database (HGMD)
GFI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFI1

SNP Genotyping and Copy Number Assay Products

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

Disorders for GFI1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for GFI1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital, 2, autosomal dominant
  • scn2
neutropenia, nonimmune chronic idiopathic, of adults
  • nonimmune chronic idiopathic neutropenia of adults
severe congenital neutropenia autosomal dominant
  • autosomal dominant severe congenital neutropenia
severe congenital neutropenia
  • kostmann disease
idiopathic neutropenia
  • nonimmune chronic idiopathic neutropenia of adults
- 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.

Additional Disease Information for GFI1

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

No data available for Genatlas for GFI1 Gene

Publications for GFI1 Gene

  1. A role of Miz-1 in Gfi-1-mediated transcriptional repression of CDKN1A. (PMID: 20190815) Liu Q … Dong F (Oncogene 2010) 3 4 23
  2. A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. (PMID: 20075157) Khandanpour C … Möröy T (Blood 2010) 3 23 41
  3. Gfi-1 represses CDKN2B encoding p15INK4B through interaction with Miz-1. (PMID: 19164764) Basu S … Dong F (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
  4. Loss of function genetic screens reveal MTGR1 as an intracellular repressor of beta1 integrin-dependent neurite outgrowth. (PMID: 19026687) Ossovskaya VS … Basbaum AI (Journal of neuroscience methods 2009) 3 4 23
  5. Ajuba functions as a histone deacetylase-dependent co-repressor for autoregulation of the growth factor-independent-1 transcription factor. (PMID: 18805794) Montoya-Durango DE … Grimes HL (The Journal of biological chemistry 2008) 3 4 23

Products for GFI1 Gene

Sources for GFI1 Gene