GFI1B

This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Description

Growth factor independent 1B transcriptional repressor

Tissue specificity

Tissue enriched (bone marrow)

Subcell location

Nucleoplasm, Plasma membrane

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

9 (132944000 - 132991687)

Ensembl ID

ENSG00000165702  (ver. 103.38)

Orthologs

Mouse Gfi1b: ENSMUSG00000026815

UniProt

Q5VTD9

neXtProt

NX_Q5VTD9

Human splice variants
Mouse splice variants

Protein structure