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    GFI1B growth factor independent 1B transcriptional repressor [ Homo sapiens (human) ]

    Gene ID: 8328, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GFI1Bprovided by HGNC
    Official Full Name
    growth factor independent 1B transcriptional repressorprovided by HGNC
    Primary source
    HGNC:HGNC:4238
    See related
    Ensembl:ENSG00000165702 MIM:604383; AllianceGenome:HGNC:4238
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BDPLT17; ZNF163B
    Summary
    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]
    Expression
    Biased expression in bone marrow (RPKM 8.3) and testis (RPKM 0.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See GFI1B in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132945531..132993434)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145157346..145209367)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135820918..135867074)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene adenylate kinase 8 Neighboring gene sperm acrosome associated 9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:135778941-135779625 Neighboring gene TSC complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135819875-135820608 Neighboring gene microRNA 548aw Neighboring gene ribosomal protein L39 pseudogene 24 Neighboring gene RNA, U7 small nuclear 21 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135869188-135869748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135869749-135870309 Neighboring gene CRISPRi-validated cis-regulatory element chr9.3630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135876277-135876777 Neighboring gene GATA motif-containing MPRA enhancer 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135880361-135881232 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135894502-135895194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135895195-135895887 Neighboring gene uncharacterized LOC105376306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29226 Neighboring gene small nucleolar RNA, C/D box 141A Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GATA-1 and NF-Y cooperate to mediate erythroid-specific transcription of Gfi-1B gene. Huang DY, et al. Nucleic Acids Res, 2004. PMID 15280509, Free PMC Article
    2. A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia. Uchiyama Y, et al. Br J Haematol, 2018 Jun. PMID 28439885
    3. GFI1B controls its own expression binding to multiple sites. Anguita E, et al. Haematologica, 2010 Jan. PMID 19773260, Free PMC Article
    4. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. Ferreira CR, et al. Mol Genet Metab, 2017 Mar. PMID 28041820, Free PMC Article
    5. Gfi1b: a key player in the genesis and maintenance of acute myeloid leukemia and myelodysplastic syndrome. Thivakaran A, et al. Haematologica, 2018 Apr. PMID 29326122, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.
      Title: GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.
    2. Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
      Title: Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
    3. Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.
      Title: Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.
    4. GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.
      Title: GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.
    5. Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
      Title: Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
    6. Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
      Title: Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
    7. Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.
      Title: Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.
    8. The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
      Title: The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
    9. Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
      Title: Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
    10. Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.
      Title: Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Platelet-type bleeding disorder 17
    MedGen: C1861194 OMIM: 187900 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of hemopoiesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein Gfi-1b
    Names
    growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)
    growth factor independent 1B transcription repressor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034227.1 RefSeqGene

      Range
      5001..51153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_879

    mRNA and Protein(s)

    1. NM_001135031.2 → NP_001128503.1  zinc finger protein Gfi-1b isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a shorter 5' UTR and lacks a coding exon, compared to variant 1. The resulting isoform (2) lacks an internal segment compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).
      Source sequence(s)
      AL593851, AY428733, BC035626, BC043371, BX113435
      Consensus CDS
      CCDS48049.1
      UniProtKB/Swiss-Prot
      Q5VTD9
      Related
      ENSP00000361196.1, ENST00000372123.5
      Conserved Domains (4) summary
      COG5048
      Location:184 → 261
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:176 → 196
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:174 → 196
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:216 → 241
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001371908.1 → NP_001358837.1  zinc finger protein Gfi-1b isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL593851
      Consensus CDS
      CCDS94523.1
      UniProtKB/TrEMBL
      A0A024R8F3
      Related
      ENSP00000490303.1, ENST00000636137.1
      Conserved Domains (3) summary
      COG5048
      Location:252 → 329
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:244 → 264
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:284 → 309
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001377304.1 → NP_001364233.1  zinc finger protein Gfi-1b isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 1, encodes isoform 1.
      Source sequence(s)
      AL593851
      Consensus CDS
      CCDS6957.1
      UniProtKB/Swiss-Prot
      O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888
      Related
      ENSP00000361195.1, ENST00000372122.4
      Conserved Domains (4) summary
      PHA00733
      Location:191 → 239
      PHA00733; hypothetical protein
      COG5048
      Location:230 → 307
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:222 → 242
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:262 → 287
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001377305.1 → NP_001364234.1  zinc finger protein Gfi-1b isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AL593851
      Consensus CDS
      CCDS48049.1

    5. NM_004188.8 → NP_004179.3  zinc finger protein Gfi-1b isoform 1

      See identical proteins and their annotated locations for NP_004179.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AL445645, AL593851
      Consensus CDS
      CCDS6957.1
      UniProtKB/Swiss-Prot
      O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888
      Related
      ENSP00000344782.3, ENST00000339463.7
      Conserved Domains (4) summary
      PHA00733
      Location:191 → 239
      PHA00733; hypothetical protein
      COG5048
      Location:230 → 307
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:222 → 242
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:262 → 287
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      132945531..132993434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423942.1 → XP_047279898.1  zinc finger protein Gfi-1b isoform X2

    2. XM_006717297.4 → XP_006717360.1  zinc finger protein Gfi-1b isoform X1

      See identical proteins and their annotated locations for XP_006717360.1

      UniProtKB/TrEMBL
      A0A024R8F3
      Conserved Domains (3) summary
      COG5048
      Location:252 → 329
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:244 → 264
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:284 → 309
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_007061360.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145157346..145209367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363919.1 → XP_054219894.1  zinc finger protein Gfi-1b isoform X1

      UniProtKB/TrEMBL
      A0A024R8F3

    2. XM_054363923.1 → XP_054219898.1  zinc finger protein Gfi-1b isoform X4

    3. XM_054363922.1 → XP_054219897.1  zinc finger protein Gfi-1b isoform X3

      UniProtKB/Swiss-Prot
      O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888

    4. XM_054363920.1 → XP_054219895.1  zinc finger protein Gfi-1b isoform X1

      UniProtKB/TrEMBL
      A0A024R8F3

    5. XM_054363921.1 → XP_054219896.1  zinc finger protein Gfi-1b isoform X1

      UniProtKB/TrEMBL
      A0A024R8F3

    RNA

    1. XR_008488079.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VTD9.1 GenPept UniProtKB/Swiss-Prot:Q5VTD9

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