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Aliases for GFI1B Gene

Aliases for GFI1B Gene

  • Growth Factor Independent 1B Transcriptional Repressor 2 3 5
  • Growth Factor Independent 1B (Potential Regulator Of CDKN1A, Translocated In CML) 2 3
  • Growth Factor Independent 1B Transcription Repressor 3
  • Potential Regulator Of CDKN1A Translocated In CML 4
  • Growth Factor Independent Protein 1B 4
  • Zinc Finger Protein Gfi-1b 3
  • BDPLT17 3
  • ZNF163B 3

External Ids for GFI1B Gene

Previous GeneCards Identifiers for GFI1B Gene

  • GC09P126886
  • GC09P127418
  • GC09P129174
  • GC09P131096
  • GC09P131130
  • GC09P132850
  • GC09P134810
  • GC09P135821
  • GC09P105347

Summaries for GFI1B Gene

Entrez Gene Summary for GFI1B Gene

  • This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

GeneCards Summary for GFI1B Gene

GFI1B (Growth Factor Independent 1B Transcriptional Repressor) is a Protein Coding gene. Diseases associated with GFI1B include Bleeding Disorder, Platelet-Type, 17 and Gray Platelet Syndrome. Among its related pathways are NF-kappaB Signaling. GO annotations related to this gene include RNA polymerase II transcription factor binding. An important paralog of this gene is GFI1.

UniProtKB/Swiss-Prot for GFI1B Gene

  • Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation.

Gene Wiki entry for GFI1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFI1B Gene

Genomics for GFI1B Gene

Regulatory Elements for GFI1B Gene

Enhancers for GFI1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F132999 0.8 FANTOM5 ENCODE 38.2 +55.4 55405 0.3 HDAC1 ARNT TBL1XR1 NFRKB GATA2 CREM ZBTB2 ZBTB11 NCOA1 ZEB2 GFI1B TSC1 GC09P133045 GC09P133069 GC09P133080 GC09P133081 GC09P132965
GH09F132981 1 FANTOM5 Ensembl ENCODE 31.9 +40.8 40808 5.8 HDAC1 ATF1 PKNOX1 CBX3 TBL1XR1 NFXL1 RARA GLIS2 GATA2 SCRT2 GFI1B GBGT1 GC09P132965 GC09P133045 GC09P133069 GC09P133080 GC09P133081
GH09F133001 1.1 FANTOM5 Ensembl ENCODE 24.9 +59.6 59569 3.3 HDGF PKNOX1 ATF1 ARNT CREB3L1 ZNF121 ELK1 GATA2 KLF13 NCOA1 GFI1B GC09P133045 GC09P133069 GC09P133080 GC09P133081 GC09P132965
GH09F132908 0.2 ENCODE 11.5 -35.2 -35182 0.1 ZNF362 AK8 SPACA9 TSC1 GFI1B RNU7-21P RPL39P24 PIR193201 PIR60978
GH09F132977 1.2 Ensembl ENCODE 11.2 +34.1 34076 2.0 HDGF ARNT ZNF133 ZFP64 ARID4B GLI4 DMAP1 ZNF48 GLIS2 GATA2 SETX EEF1A1P5 TSC1 GFI1B ENSG00000224992 AK8 GC09P132965 GC09P133045 GC09P133069 GC09P133080
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GFI1B on UCSC Golden Path with GeneCards custom track

Promoters for GFI1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001316663 600 2001 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for GFI1B Gene

Chromosome:
9
Start:
132,944,000 bp from pter
End:
132,993,434 bp from pter
Size:
49,435 bases
Orientation:
Plus strand

Genomic View for GFI1B Gene

Genes around GFI1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFI1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFI1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFI1B Gene

Proteins for GFI1B Gene

  • Protein details for GFI1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VTD9-GFI1B_HUMAN
    Recommended name:
    Zinc finger protein Gfi-1b
    Protein Accession:
    Q5VTD9
    Secondary Accessions:
    • O95270
    • Q5VTD8
    • Q6FHZ2
    • Q6T888

    Protein attributes for GFI1B Gene

    Size:
    330 amino acids
    Molecular mass:
    37492 Da
    Quaternary structure:
    • Component of a RCOR-GFI-KDM1A-HDAC complex. Interacts directly with RCOR1, KDM1A and HDAC2 (By similarity). Forms a complex with GATA1. Interacts with histone methyltransferases EHMT2 and SUV39H1. Interacts with ARIH2 (via RING-type 2). Interacts with RUNX1T1.

    Alternative splice isoforms for GFI1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFI1B Gene

Post-translational modifications for GFI1B Gene

  • Methylation at Lys-8 in the SNAG domain seems required for the recruitment of the corepressor complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GFI1B Gene

Domains & Families for GFI1B Gene

Suggested Antigen Peptide Sequences for GFI1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VTD9

UniProtKB/Swiss-Prot:

GFI1B_HUMAN :
  • The zinc finger domains are essential for erythroid expansion and acts as an activation domain whereas non finger domain serves as repression domain.
  • Contains 6 C2H2-type zinc fingers.
Domain:
  • The zinc finger domains are essential for erythroid expansion and acts as an activation domain whereas non finger domain serves as repression domain.
  • 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 GFI1B: view

Function for GFI1B Gene

Molecular function for GFI1B Gene

GENATLAS Biochemistry:
growth factor independence 1B,highly expressed in bone marrow and fetal liver,putative transcriptional repression,part of the TSC1 locus,translocated along with ABL1 in chronic myeloid leukemia with translocation t(9;22)
UniProtKB/Swiss-Prot Function:
Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation.
UniProtKB/Swiss-Prot Induction:
By GATA1 which binds to GFI1B promoter in cooperation with the transcription factor NFYA. Target gene of transcription factor E2-alpha/TCF3 that promotes growth arrest and apoptosis in lymphomas.

Gene Ontology (GO) - Molecular Function for GFI1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IPI 15920471
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 12874834
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GFI1B: view
genes like me logo Genes that share phenotypes with GFI1B: view

Human Phenotype Ontology for GFI1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GFI1B Gene

MGI Knock Outs for GFI1B:

Animal Model Products

Targeted motifs for GFI1B Gene
HOMER Transcription Factor Regulatory Elements motif GFI1B
  • Consensus sequence: AAATCACTGC Submotif: canonical Cell Type: HPC7 GEO ID: GSE22178

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for GFI1B Gene

Localization for GFI1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFI1B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFI1B Gene COMPARTMENTS Subcellular localization image for GFI1B gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for GFI1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12874834
GO:0005667 transcription factor complex IDA 15920471
GO:0016363 nuclear matrix IDA 12874834
genes like me logo Genes that share ontologies with GFI1B: view

Pathways & Interactions for GFI1B Gene

SuperPathways for GFI1B Gene

SuperPathway Contained pathways
1 NF-kappaB Signaling
genes like me logo Genes that share pathways with GFI1B: view

Pathways by source for GFI1B Gene

1 Cell Signaling Technology pathway for GFI1B Gene

Gene Ontology (GO) - Biological Process for GFI1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS 9566867
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 9566867
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with GFI1B: view

No data available for SIGNOR curated interactions for GFI1B Gene

Transcripts for GFI1B Gene

mRNA/cDNA for GFI1B Gene

Unigene Clusters for GFI1B Gene

Growth factor independent 1B transcription repressor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFI1B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: -
SP3:

Relevant External Links for GFI1B Gene

GeneLoc Exon Structure for
GFI1B
ECgene alternative splicing isoforms for
GFI1B

Expression for GFI1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GFI1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GFI1B Gene

This gene is overexpressed in Whole Blood (x35.5) and Testis (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of GFI1B Gene:

GFI1B

SOURCE GeneReport for Unigene cluster for GFI1B Gene:

Hs.553160

mRNA Expression by UniProt/SwissProt for GFI1B Gene:

Q5VTD9-GFI1B_HUMAN
Tissue specificity: Expressed in bone marrow and fetal liver, but also detectable in fetal spleen, fetal thymus, and testes. Detected in hematopoietic stem cells, erythroblasts, and megakaryocytes. Overexpressed in bone marrow of patients with erythroleukemia and megakaryocytic leukemia as well as in their corresponding leukemic cell lines, and markedly repressed in severe aplastic anemia (SAA).
genes like me logo Genes that share expression patterns with GFI1B: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GFI1B Gene

Orthologs for GFI1B Gene

This gene was present in the common ancestor of animals.

Orthologs for GFI1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFI1B 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia GFI1B 34 35
  • 89.09 (n)
cow
(Bos Taurus)
Mammalia GFI1B 34 35
  • 87.78 (n)
mouse
(Mus musculus)
Mammalia Gfi1b 34 16 35
  • 84.75 (n)
rat
(Rattus norvegicus)
Mammalia Gfi1b 34
  • 84.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GFI1B 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFI1B 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFI1B 34 35
  • 73.65 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 77 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gfi1b 34
  • 66.98 (n)
zebrafish
(Danio rerio)
Actinopterygii gfi1b 34 35
  • 64.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ly 36
  • 86 (a)
sens-2 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pag-3 36 35
  • 76 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 75 (a)
OneToMany
Species where no ortholog for GFI1B was found in the sources mined by GeneCards:
  • 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 GFI1B Gene

ENSEMBL:
Gene Tree for GFI1B (if available)
TreeFam:
Gene Tree for GFI1B (if available)

Paralogs for GFI1B Gene

Paralogs for GFI1B Gene

(438) SIMAP similar genes for GFI1B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GFI1B: view

Variants for GFI1B Gene

Sequence variations from dbSNP and Humsavar for GFI1B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs761044764 A colorectal cancer sample 132,989,785(+) CAAGC(A/G)CTCGT reference, missense
rs397989794 Pathogenic 132,990,937(+) CACCC(-/C)ACAGC reference, frameshift-variant
rs587777211 Pathogenic 132,990,916(+) TCAGC(C/T)AGAGC reference, stop-gained
rs796053468 Uncertain significance 132,944,543(-) CGGTG(A/G)GTGAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10119210 -- 132,977,715(+) CCAAA(C/T)GGGAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GFI1B Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
esv3444926 CNV insertion 20981092
nsv509329 CNV insertion 20534489
nsv6745 CNV insertion 18451855
nsv831743 CNV loss 17160897
nsv831744 CNV gain+loss 17160897
nsv972809 CNV duplication 23825009

Variation tolerance for GFI1B Gene

Residual Variation Intolerance Score: 80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 51.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFI1B Gene

Human Gene Mutation Database (HGMD)
GFI1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFI1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFI1B Gene

Disorders for GFI1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for GFI1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 17
  • bleeding disorder, platelet type 17
gray platelet syndrome
  • gps
chronic leukemia
  • chronic lymphocytic leukemia
thrombocytopenia-absent radius syndrome
  • chromosome 1q21.1 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GFI1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GFI1B_HUMAN
  • Bleeding disorder, platelet-type 17 (BDPLT17) [MIM:187900]: An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery. {ECO:0000269 PubMed:23927492, ECO:0000269 PubMed:24325358}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GFI1B

Human Genome Epidemiology (HuGE) Navigator
GFI1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFI1B
genes like me logo Genes that share disorders with GFI1B: view

No data available for Genatlas for GFI1B Gene

Publications for GFI1B Gene

  1. Growth factor independent 1B (Gfi1b) is an E2A target gene that modulates Gata3 in T-cell lymphomas. (PMID: 17272506) Wei X. … Kee B.L. (Blood 2007) 3 4 22 64
  2. GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription. (PMID: 17420275) Kuo Y.-Y. … Chang Z.-F. (Mol. Cell. Biol. 2007) 3 4 22 64
  3. GATA-1 mediates auto-regulation of Gfi-1B transcription in K562 cells. (PMID: 16177182) Huang D.-Y. … Chang Z.-F. (Nucleic Acids Res. 2005) 3 4 22 64
  4. GATA-1 and NF-Y cooperate to mediate erythroid-specific transcription of Gfi-1B gene. (PMID: 15280509) Huang D.Y. … Chang Z.F. (Nucleic Acids Res. 2004) 3 4 22 64
  5. Erythroid expansion mediated by the Gfi-1B zinc finger protein: role in normal hematopoiesis. (PMID: 12351384) Osawa M. … Iwama A. (Blood 2002) 3 4 22 64

Products for GFI1B Gene

Sources for GFI1B Gene

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