GFI1 Gene 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]

Details

Type
Protein Coding
Official Symbol
GFI1
Official Name
growth factor independent 1 transcriptional repressor [Source:HGNC Symbol;Acc:HGNC:4237]
Ensembl ID
ENSG00000162676
Bio databases IDs NCBI: 2672 Ensembl: ENSG00000162676
Aliases growth factor independent 1 transcriptional repressor
Synonyms
GFI1A,growth factor independent 1 transcriptional repressor,growth factor independent 1 transcription repressor,Pal-1,SCN2,ZNF163
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Zinc finger, C2H2 type
  • zinc finger DNA binding domain
  • transcription regulator
  • nucleic acid binding
  • protein binding activity, bridging
  • SNAG domain
  • protein binding
  • sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
  • double-stranded DNA binding
  • Zinc-finger double domain
  • zinc finger domain
  • transcription factor activity

Pathways

Biological processes and signaling networks where the GFI1 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • hyperactive behavior
  • lymphomagenesis
  • absent pinna reflex
  • hearing loss
  • esophageal squamous cell carcinoma
  • esophageal squamous cell cancer
  • neutropenia
  • adult nonimmune chronic idiopathic neutropenia
  • androgenic alopecia
regulated by
  • IL33
  • IL2
  • AGT
  • T lymphocytes
  • Immunoglobulin
  • lithium chloride
  • tretinoin
  • MIF
  • IL4
  • TCR (family)
regulates
role in cell
  • activation in
  • apoptosis
  • cell death
  • expression in
  • adhesion
  • quantity
  • differentiation
  • function
  • activation
  • production in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear foci
  • nucleoplasm
  • nuclear bodies
  • nuclear matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the GFI1 gene, providing context for its role in the cell.

biological PROCESS

Functions and activities the gene product is involved in
  • negative regulation of transcription from RNA polymerase II promoter
  • negative regulation of calcidiol 1-monooxygenase activity
  • negative regulation of transcription, DNA-dependent
  • cellular response to lipopolysaccharide
  • negative regulation of neuron projection development
  • negative regulation of NF-kappaB transcription factor activity
  • regulation of toll-like receptor signaling pathway
  • negative regulation of vitamin D biosynthetic process
  • positive regulation of interleukin-6-mediated signaling pathway
  • response to DNA damage stimulus
  • regulation of transcription from RNA polymerase II promoter

cellular COMPONENT

Where in the cell the gene product is active
  • nucleus
  • nuclear body
  • transcriptional repressor complex
  • nuclear matrix

molecular FUNCTION

What the gene product does at the molecular level
  • sequence-specific DNA binding transcription factor activity
  • protein binding
  • metal ion binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • transcription regulatory region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.