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

Gene ID: 2672, updated on 21-Apr-2019

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
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 Apr 4 07:08:55 2018

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, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
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 
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, 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_005263.5NP_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, ENST00000294702.6
    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

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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