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GFI1 growth factor independent 1 transcriptional repressor [ Homo sapiens (human) ]

Gene ID: 2672, updated on 27-Nov-2024

Summary

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Official Symbol
GFI1provided by HGNC
Official Full Name
growth factor independent 1 transcriptional repressorprovided by HGNC
Primary source
HGNC:HGNC:4237
See related
Ensembl:ENSG00000162676 MIM:600871; AllianceGenome:HGNC:4237
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
SCN2; GFI-1; GFI1A; ZNF163
Summary
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]
Expression
Biased expression in bone marrow (RPKM 11.4), lymph node (RPKM 2.0) and 10 other tissues See more
Orthologs
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Genomic context

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See GFI1 in Genome Data Viewer
Location:
1p22.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92473043..92486925, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92317932..92331836, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92938600..92952482, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1312 Neighboring gene glomulin, FKBP associated protein Neighboring gene Sharpr-MPRA regulatory region 6980 Neighboring gene RNA polymerase II associated protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1313 Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92949865-92950465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:92948665-92949264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92951066-92951666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1317 Neighboring gene ecotropic viral integration site 5 Neighboring gene succinate dehydrogenase assembly factor 3, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1076 Neighboring gene high mobility group box 3 pseudogene 9

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. Cloning of the human Gfi-1 gene and its mapping to chromosome region 1p22. Roberts T, et al. Oncogene, 1997 Feb 27. PMID 9051000
  2. Prognostic significance of high GFI1 expression in AML of normal karyotype and its association with a FLT3-ITD signature. Volpe G, et al. Sci Rep, 2017 Sep 11. PMID 28894287, Free PMC Article
  3. Lymphoid progenitor cells from childhood acute lymphoblastic leukemia are functionally deficient and express high levels of the transcriptional repressor Gfi-1. Purizaca J, et al. Clin Dev Immunol, 2013. PMID 24198842, Free PMC Article
  4. Growth factor independence 1 expression in myeloma cells enhances their growth, survival, and osteoclastogenesis. Petrusca DN, et al. J Hematol Oncol, 2018 Oct 4. PMID 30286780, Free PMC Article
  5. Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults. Parmar P, et al. EBioMedicine, 2018 Dec. PMID 30442561, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
    Title: DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
  2. Dose-dependent expression of GFI1 alters metabolism in the haematopoietic progenitors and MLL::AF9-induced leukaemic cells.
    Title: Dose-dependent expression of GFI1 alters metabolism in the haematopoietic progenitors and MLL::AF9-induced leukaemic cells.
  3. Hematopoietic transcription factor GFI1 promotes anchorage independence by sustaining ERK activity in cancer cells.
    Title: Hematopoietic transcription factor GFI1 promotes anchorage independence by sustaining ERK activity in cancer cells.
  4. GFI1 regulates chromatin state essential in human endothelial-to-haematopoietic transition.
    Title: GFI1 regulates chromatin state essential in human endothelial-to-haematopoietic transition.
  5. GFI1 Cooperates with IKZF1/IKAROS to Activate Gene Expression in T-cell Acute Lymphoblastic Leukemia.
    Title: GFI1 Cooperates with IKZF1/IKAROS to Activate Gene Expression in T-cell Acute Lymphoblastic Leukemia.
  6. DNA methylation of GFI1 as a mediator of the association between prenatal smoking exposure and ADHD symptoms at 6 years: the Hokkaido Study on Environment and Children's Health.
    Title: DNA methylation of GFI1 as a mediator of the association between prenatal smoking exposure and ADHD symptoms at 6 years: the Hokkaido Study on Environment and Children's Health.
  7. GFI1 promotes the proliferation and migration of esophageal squamous cell carcinoma cells through the inhibition of SOCS1 expression.
    Title: GFI1 promotes the proliferation and migration of esophageal squamous cell carcinoma cells through the inhibition of SOCS1 expression.
  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. Epigenetic Regulation of Gfi1 in Endocrine-Related Cancers: a Role Regulating Tumor Growth.
    Title: Epigenetic Regulation of Gfi1 in Endocrine-Related Cancers: a Role Regulating Tumor Growth.
  10. Gfi1 upregulates c-Myc expression and promotes c-Myc-driven cell proliferation.
    Title: Gfi1 upregulates c-Myc expression and promotes c-Myc-driven cell proliferation.
Submit: New GeneRIF Correction See all GeneRIFs (66)

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
Neutropenia, severe congenital, 2, autosomal dominant
MedGen: C2751288 OMIM: 613107 GeneReviews: Not available
Compare labs
Nonimmune chronic idiopathic neutropenia of adults
MedGen: C1842930 OMIM: 607847 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2024-07-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2024-07-22)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ94509

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables enzyme-substrate adaptor activity IDA
Inferred from Direct Assay
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 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to lipopolysaccharide IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of calcidiol 1-monooxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of neuron projection development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of vitamin D biosynthetic process IC
Inferred by Curator
more info
 PubMed 
involved_in positive regulation of interleukin-6-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of toll-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
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 body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription repressor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
zinc finger protein Gfi-1
Names
growth factor independence-1
growth factor independent 1 transcription repressor
growth factor independent protein 1
zinc finger protein 163

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_007874.1 RefSeqGene

    Range
    5001..17116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_63

mRNA and Protein(s)

  1. NM_001127215.3 → NP_001120687.1  zinc finger protein Gfi-1

    See identical proteins and their annotated locations for NP_001120687.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC104456, AK123009, AK313876, AW086150, BC032751, BQ336135, DA927584
    Consensus CDS
    CCDS30773.1
    UniProtKB/Swiss-Prot
    Q8N564, Q99684
    Related
    ENSP00000359357.1, ENST00000370332.5
    Conserved Domains (2) summary
    COG5048
    Location:254 → 416
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:314 → 334
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_001127216.3 → NP_001120688.1  zinc finger protein Gfi-1

    See identical proteins and their annotated locations for NP_001120688.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC104456, AK123009, AW086150, BC032751, BQ336135, DA927584, DA938896
    Consensus CDS
    CCDS30773.1
    UniProtKB/Swiss-Prot
    Q8N564, Q99684
    Related
    ENSP00000399719.1, ENST00000427103.6
    Conserved Domains (2) summary
    COG5048
    Location:254 → 416
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:314 → 334
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. NM_005263.5 → NP_005254.2  zinc finger protein Gfi-1

    See identical proteins and their annotated locations for NP_005254.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC104456, AK123009, AW086150, BE242676, BQ336135, DA927584, DB129173
    Consensus CDS
    CCDS30773.1
    UniProtKB/Swiss-Prot
    Q8N564, Q99684
    Related
    ENSP00000294702.5, ENST00000294702.6
    Conserved Domains (2) summary
    COG5048
    Location:254 → 416
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:314 → 334
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    92473043..92486925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541246.3 → XP_011539548.1  zinc finger protein Gfi-1 isoform X1

    See identical proteins and their annotated locations for XP_011539548.1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684
    Conserved Domains (2) summary
    COG5048
    Location:254 → 416
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:314 → 334
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. XM_011541245.3 → XP_011539547.1  zinc finger protein Gfi-1 isoform X1

    See identical proteins and their annotated locations for XP_011539547.1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684
    Conserved Domains (2) summary
    COG5048
    Location:254 → 416
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:314 → 334
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. XM_005270749.4 → XP_005270806.1  zinc finger protein Gfi-1 isoform X1

    See identical proteins and their annotated locations for XP_005270806.1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684
    Conserved Domains (2) summary
    COG5048
    Location:254 → 416
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:314 → 334
    ZF_C2H2; C2H2 Zn finger [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    92317932..92331836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335977.1 → XP_054191952.1  zinc finger protein Gfi-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684

  2. XM_054335978.1 → XP_054191953.1  zinc finger protein Gfi-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684

  3. XM_054335979.1 → XP_054191954.1  zinc finger protein Gfi-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684

  4. XM_054335980.1 → XP_054191955.1  zinc finger protein Gfi-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N564, Q99684
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99684.2 GenPept UniProtKB/Swiss-Prot:Q99684

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