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

Gene ID: 8328, updated on 7-Apr-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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Location:
9q34.13
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132945531..132993434)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145157346..145209367)
105.20220307 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. Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms. van Bergen MGJM, et al. Biochim Biophys Acta Mol Basis Dis, 2021 Dec 1. PMID 34450246
  2. Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation. Faleschini M, et al. Haematologica, 2022 Jan 1. PMID 33472357, Free PMC Article
  3. Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia. Cheng AN, et al. Pediatr Blood Cancer, 2019 Sep. PMID 31207059, Free PMC Article
  4. Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses. van Oorschot R, et al. Haematologica, 2019 Jun. PMID 30573501, 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 (57) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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