GFI1

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]

Description

Growth factor independent 1 transcriptional repressor

Tissue specificity

Group enriched (bone marrow, lymphoid tissue)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

1 (92473043 - 92486925)

Ensembl ID

ENSG00000162676  (ver. 103.38)

Orthologs

Mouse Gfi1: ENSMUSG00000029275

UniProt

Q99684

neXtProt

NX_Q99684

Human splice variants
Mouse splice variants

Protein structure