IFRD1

This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

Description

Interferon related developmental regulator 1

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (112422887 - 112481017)

Ensembl ID

ENSG00000006652  (ver. 103.38)

Orthologs

-

UniProt

O00458

neXtProt

NX_O00458

Human splice variants

Protein structure