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

    Gene ID: 2672, updated on 28-Oct-2018

    Summary

    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; Vega:OTTHUMG00000010897
    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

    Genomic context

    See GFI1 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (92473043..92486876, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92940318..92952433, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene glomulin, FKBP associated protein Neighboring gene RNA polymerase II associated protein 2 Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene Neighboring gene ecotropic viral integration site 5 Neighboring gene succinate dehydrogenase assembly factor 3, mitochondrial pseudogene Neighboring gene high mobility group box 3 pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ94509

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to lipopolysaccharide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of NF-kappaB transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of calcidiol 1-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of vitamin D biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of interleukin-6-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of histone H3-K4 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of toll-like receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    viral process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    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_001127215.2NP_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
      Q99684
      Related
      ENSP00000359357.1, OTTHUMP00000012582, ENST00000370332.5
      Conserved Domains (3) summary
      COG5048
      Location:254416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:314334
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:354379
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001127216.2NP_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
      Q99684
      Related
      ENSP00000399719.1, ENST00000427103.5
      Conserved Domains (3) summary
      COG5048
      Location:254416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:314334
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:354379
      zf-H2C2_2; Zinc-finger double domain
    3. NM_005263.4NP_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
      Q99684
      Related
      ENSP00000294702.5, OTTHUMP00000012583, ENST00000294702.5
      Conserved Domains (3) summary
      COG5048
      Location:254416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:314334
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:354379
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      92473043..92486876 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541246.2XP_011539548.1  zinc finger protein Gfi-1 isoform X1

      See identical proteins and their annotated locations for XP_011539548.1

      UniProtKB/Swiss-Prot
      Q99684
      Conserved Domains (3) summary
      COG5048
      Location:254416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:314334
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:354379
      zf-H2C2_2; Zinc-finger double domain
    2. XM_011541245.2XP_011539547.1  zinc finger protein Gfi-1 isoform X1

      See identical proteins and their annotated locations for XP_011539547.1

      UniProtKB/Swiss-Prot
      Q99684
      Conserved Domains (3) summary
      COG5048
      Location:254416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:314334
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:354379
      zf-H2C2_2; Zinc-finger double domain
    3. XM_005270749.3XP_005270806.1  zinc finger protein Gfi-1 isoform X1

      See identical proteins and their annotated locations for XP_005270806.1

      UniProtKB/Swiss-Prot
      Q99684
      Conserved Domains (3) summary
      COG5048
      Location:254416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:314334
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:354379
      zf-H2C2_2; Zinc-finger double domain
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