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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFI1 Gene

protein-coding   GIFtS: 64
GCID: GC01M092940

growth factor independent 1 transcription repressor

(Previous name: growth factor independent 1 )
(Previous symbol: ZNF163)
 Explore 23 diseases affiliated with
GFI1 via our new
 Human Malady Compendium 
Biological research products
for GFI1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Growth Factor Independent 1 Transcription Repressor1 2     Zinc Finger Protein 1632 3
ZNF1631 2 3 5     SCN22 5
GFI-11 2     Growth Factor Independent 11
GFI1A1 2     Growth Factor Independence-12
Growth Factor Independent Protein 12 3     Zinc Finger Protein Gfi-12

External Ids:    HGNC: 42371   Entrez Gene: 26722   Ensembl: ENSG000001626767   OMIM: 6008715   UniProtKB: Q996843   

Export aliases for GFI1 gene to outside databases

Previous GC identifers: GC01M093408 GC01M092149 GC01M092277 GC01M092412 GC01M092652 GC01M092712 GC01M091061


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GFI1:
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)

UniProtKB/Swiss-Prot: GFI1_HUMAN, Q99684
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

Gene Wiki entry for GFI1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GFI1 gene promoter:
         AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GFI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GFI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GFI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p22

GFI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFI1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M092940:  view genomic region     (about GC identifiers)

Start:
92,940,318 bp from pter      End:
92,952,433 bp from pter
Size:
12,116 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GFI1_HUMAN, Q99684 (See protein sequence)
Recommended Name: Zinc finger protein Gfi-1  
Size: 422 amino acids; 45297 Da
Subunit: 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
Subcellular location: Nucleus. Note=Colocalizes with PIAS3 and RUNX1T1 in nuclear dots
Secondary accessions: Q8N564

Explore the universe of human proteins at neXtProt for GFI1: NX_Q99684

Post-translational modifications:

  • Ubiquitinated. Ubiquitination and degradation by the proteasome is inhibited by the ubiquitin ligase, ARIH21
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99684

  • GFI1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120687.1  NP_001120688.1  NP_005254.2  

    ENSEMBL proteins: 
     ENSP00000359357   ENSP00000294702   ENSP00000399719  

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    Uscn Proteins for GFI1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12874834
    GO:0016363nuclear matrix IDA12874834
    GO:0016604nuclear body IDA11060035
    GO:0017053transcriptional repressor complex IDA12874834


    GFI1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GFI1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GFI1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2
     IPR001878 Znf_CCHC

    Graphical View of Domain Structure for InterPro Entry Q99684

    ProtoNet protein and cluster: Q99684

    1 Blocks protein family: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: GFI1_HUMAN, Q99684
    Domain: Zinc fingers 3, 4 and 5 are required for DNA-binding and for interaction with SPI1
    Domain: The SNAG domain of GFIs is required for nuclear location and for interaction with some corepressors (By
    similarity)
    Similarity: Contains 6 C2H2-type zinc fingers


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GFI1_HUMAN, Q99684
    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
    Induction: Down-regulated by TGFB1

         Genatlas biochemistry entry for GFI1:
    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

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    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0044212transcription regulatory region DNA binding IDA15947108


    GFI1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GFI1:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-outs for GFI1: Gfi1tm1Sho Gfi1tm1.1Wep Gfi1tm1Tmo
         8 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Gfi1):
     behavior/neurological  cellular  growth/size  hearing/vestibular/ear  hematopoietic system 
     immune system  mortality/aging  nervous system 

    GFI1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression1.00


    1 BioSystems Pathway for GFI1 
        Validated targets of C-MYC transcriptional repression


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GFI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/45 Interacting proteins for GFI1 (Q996841, 2, 3 ENSP000002947024) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRDM5Q9NQX11, 3, ENSP000002648084EBI-949368,EBI-4292031 I2D: score=2 STRING: ENSP00000264808
    RELAQ042061, 3, ENSP000003842734EBI-949368,EBI-73886 I2D: score=1 STRING: ENSP00000384273
    EHMT2Q96KQ71, 3, ENSP000003646874EBI-949368,EBI-744366 I2D: score=2 STRING: ENSP00000364687
    HDAC1Q135471, 3, ENSP000003626494EBI-949368,EBI-301834 I2D: score=2 STRING: ENSP00000362649
    PICK1Q9NRD52, 3, ENSP000003494654MINT-2866693 I2D: score=3 STRING: ENSP00000349465
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000083regulation of transcription involved in G1/S phase of mitotic cell cycle TAS8441411
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15947108
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007638mechanosensory behavior IEA--
    GO:0009996negative regulation of cell fate specification IEA--


    GFI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GFI1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GFI1
    3 Novoseek chemical compound relationships for GFI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 48.8 9 18805794 (1), 12579345 (1), 11246463 (1), 7789186 (1) (see all 6)
    calcitriol 21.4 1 17207994 (1)
    oligonucleotide 18.9 7 8754800 (1), 15254021 (1), 11503967 (1)

    Search CenterWatch for drugs/clinical trials and news about GFI1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GFI1 gene (3 alternative transcripts): 
    NM_001127215.1  NM_001127216.1  NM_005263.3  

    Unigene Cluster for GFI1:

    Growth factor independent 1 transcription repressor
    Hs.73172  [show with all ESTs]
    Unigene Representative Sequence: AK123009
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370332(uc001dou.4) ENST00000294702(uc001dow.4) ENST00000483490
    ENST00000427103(uc001dov.4)

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    Additional cDNA sequence: 

    AB209606.1 AK123009.1 AK313876.1 BC032751.1 BC074866.2 BC074867.2 U67369.1 

    5 DOTS entries:

    DT.409203  DT.101958211  DT.99935049  DT.95364989  DT.121331690 

    24/34 AceView cDNA sequences (see all 34):

    BC074866 BX103897 BC074867 AW338888 AA418008 AA932727 AW338887 BM463411 
    BC032751 BX436829 CD520401 U67369 AA418106 BE669987 BE045631 BE670371 
    AK123009 BF432914 BM479949 NM_005263 AW515390 AA648305 BG150508 BF445059 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTACCATAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GFI1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodCommon Lymphoid Progenitor CellsBlood
    BloodPeripheral BloodB-cell Progenitor CellsBlood
    BloodPeripheral BloodImmature B CellsBlood
    BloodPeripheral BloodPre-B CellsBlood
    BloodPeripheral BloodPro-B CellsBlood
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    BoneZeugopod PeriosteumBone
    HeartAtrioventricular CanalHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GFI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFI1

    SOURCE GeneReport for Unigene cluster: Hs.73172
        SABiosciences Expression via Pathway-Focused PCR Arrays including GFI1: 
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GFI1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GFI11 growth factor independent 1 transcription repressor 74.07(n)
    80.05(a)
      429088  XM_426644.3  XP_426644.3 
    lizard
    (Anolis carolinensis)
    Reptilia GFI16
    --
    99(a)
    1 ↔ 1
    4(93716139-93720717)
    zebrafish
    (Danio rerio)
    Actinopterygii gfi1ab1 growth factor independent 1ab 64.7(n)
    70(a)
      798697  NM_201338.1  NP_958495.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ly3 photoreceptor morphogenesis (sensu
    Drosophila) more
    86(a)   3 70A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea pag-33 Zinc finger, C2H2 type (5 domains) 76(a)   X(14986422-14989743)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GFI1 gene
    GFI1B2  FEZF12  FEZF22  
    18/277 SIMAP similar genes for GFI1 using alignment to 2 protein entries:     GFI1_HUMAN (see all proteins) (see all similar genes):
    GFI1B    ZNF78L1    ZNF818P    DKFZp686O111    ZNF55    ZNF667
    ZNF    ZFS-5    DKFZp686M04222    ZNF235    ZNF253    ZNF493
    DKFZp434J0650    ZKSCAN4    ZNF211    ZNF22    ZNF43    ZNF595

    GFI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/232 NCBI SNPs in GFI1 are shown (see all 232    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363821,2
    C,Fpathogenic92941647(-) TGGGAA/GGGGTT 6 K R mis13Minor allele frequency- G:0.00NA 4554
    rs289363811,2
    Cpathogenic92941710(-) CTCCAA/GCCTCA 6 N S mis1 ese30--------
    rs772260441,2
    F,--92939911(+) ATGATG/ATGTTG 3 -- ds50011Minor allele frequency- A:0.04WA 118
    rs583941611,2
    C,F,--92939959(+) AGACCT/CGTGAT 3 -- ds50014Minor allele frequency- C:0.14NA CSA WA 242
    rs115823791,2
    C,F,H,--92939978(+) TCATCT/CGGGAG 3 -- ds500121Minor allele frequency- C:0.05NA NS EA 2232
    rs1403394301,2
    --92939990(+) CTTCAG/TGCCCC 3 -- ds50010--------
    rs1899692731,2
    --92940077(+) AGTAGC/TTTAGT 3 -- ds50010--------
    rs1926979201,2
    --92940116(+) GAAAGA/GAGATG 3 -- ds50010--------
    rs1854518551,2
    --92940134(+) TATCTC/GTGAGG 3 -- ds50010--------
    rs1499266661,2
    --92940179(+) AGCAAC/TTGGAT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for GFI1 (92940318 - 92952433 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GFI1: --
    Human Gene Mutation Database (HGMD): GFI1

    Locus Specific Mutation Databases (LSDB): GFI1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GFI1
    DNA2.0 Custom Variant and Variant Library Synthesis for GFI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GFI1 for disorders           About GeneDecksing

    OMIM gene information: 600871   
    OMIM disorders: 613107  607847  
    UniProtKB/Swiss-Prot: GFI1_HUMAN, Q99684
  • Defects in GFI1 are a cause of neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107].
  • SCN2 is a disorder of hematopoiesis characterized by a 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
  • Defects in GFI1 are a cause of dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA)
  • [MIM:607847]. NI-CINA is a relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a
    subset of patients

    20/23 diseases for GFI1 (see all 23):    About MalaCards
    severe congenital neutropenia    neutropenia    neutropenia, nonimmune chronic idiopathic, of adults    splenic marginal zone lymphoma
    specific granule deficiency    hematopoiesis    reticular dysgenesis    leukemia
    tetraploidy    acute myeloid leukemia    myeloid leukemia    myelodysplastic syndrome
    multiple sclerosis    prostate cancer    neurodegeneration    periodontitis
    lung carcinoma    prostatitis    ataxia    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for GFI1:
    Neutropenia

    7 Novoseek disease relationships for GFI1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neutropenia, severe congenital 90.9 9 16500901 (2), 19775295 (2), 16716599 (1), 19346496 (1) (see all 5)
    neutropenia 58.5 13 18328744 (2), 17636019 (2), 18334177 (1), 20008220 (1) (see all 9)
    leukemia 8.33 1 16716599 (1)
    tumors 0 5 16716599 (2), 11246463 (1), 17978002 (1), 8887656 (1)
    prostate cancer 0 7 17207994 (3), 15947108 (2)
    lymphoma 0 1 15231650 (1)
    cancer 0 1 12525640 (1)

    Human Genome Epidemiology (HuGE) Navigator: GFI1 (3 documents)
    Tumor Gene Database (TGDB): GFI1

    Export disorders for GFI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GFI1 gene, integrated from 9 sources (see all 93):
    (articles sorted by number of sources associating them with GFI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gfi1 ubiquitination and proteasomal degradation is inhibited by the ubiquitin ligase Triad1. (PubMed id 17646546)1, 2, 9 Marteijn J.A....Van der Reijden B.A. (2007)
    2. Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1. (PubMed id 16287849)1, 2, 9 Duan Z....Horwitz M. (2005)
    3. Gfi-1 represses CDKN2B encoding p15INK4B through interaction with Miz-1. (PubMed id 19164764)1, 2, 9 Basu S....Dong F. (2009)
    4. Ajuba functions as a histone deacetylase-dependent co-repressor for autoregulation of the growth factor-independent-1 transcription factor. (PubMed id 18805794)1, 2, 9 Montoya-Durango D.E....Grimes H.L. (2008)
    5. Gfi-1 attaches to the nuclear matrix, associates with ETO (MTG8) and histone deacetylase proteins, and represses transcription using a TSA-sensitive mechanism. (PubMed id 12874834)1, 2, 9 McGhee L....Meyers S. (2003)
    6. Gfi-1 encodes a nuclear zinc finger protein that binds DNA and functions as a transcriptional repressor. (PubMed id 8754800)1, 2, 9 Zweidler-Mckay P.A....Tsichlis P.N. (1996)
    7. Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. (PubMed id 7789186)1, 3, 9 Bell D.W....Testa J.R. (1995)
    8. Loss of function genetic screens reveal MTGR1 as an intracellular repressor of beta1 integrin-dependent neurite outgrowth. (PubMed id 19026687)1, 2, 9 Ossovskaya V.S....Basbaum A.I. (2009)
    9. The transcriptional repressor GFI-1 antagonizes PU.1 activity through protein-protein interaction. (PubMed id 17197705)1, 2 Dahl R....Simon M.C. (2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2672 HGNC: 4237 AceView: GFI1 Ensembl:ENSG00000162676 euGenes: HUgn2672
    ECgene: GFI1 H-InvDB: GFI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFI1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GFI1 Genetics and Cytogenetics in Oncology and Haematology
    GFI1basehttp://bioinf.uta.fi/GFI1base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GFI1 gene:
    Search GeneIP for patents involving GFI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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