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FLASH GENE

Symbol

IFRD1

contributors: mct/pgu - updated : 06-06-2012

HGNC name	interferon-related developmental regulator 1
HGNC id	5456

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	variants 1, 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001197079 - - 3404 NP_001184008 - 401 - 1998 9722946 NM_001550 12 - 2273 NP_001541 50.14 451 - 1998 9722946 NM_001007245 13 - 3514 NP_001007246 50.14 451 - 1998 9722946 NM_001197080 12 - 3512 NP_001184009 - 401 - 1998 9722946

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroid Blood/Hematopoietic neutrophil

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	differentiating tissues such as nervous tissue, kidney, lung, fetal liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to rattus PC4
	homolog to murine Ifrd
	homolog to C.elegans f58b3.6

Homologene

FAMILY

IFRD family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,ribosome
	intracellular,nucleus

basic FUNCTION	may be playing a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF
	transcriptional co-repressor affecting the expression of specific genes in a HDAC activity-dependent manner during cell fate decisions, e.g. scattering
	having a general effect on the translation system
	negative regulator of transcriptional activity repressing expression of SPP1 and beta-catenin/TCF7L2 target genes, which are involved in myogenesis, muscle maintenance, and regeneration in a histone deacetylase dependent manner
	modulates the pathogenesis of cystic fibrosis lung disease through the regulation of neutrophil effector function
	modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function
	mediates transcriptional co-repression through interaction with histone deacetylase (HDAC) enzymes and has been implicated in cell differentiation and stress response pathways
	functions as a negative regulator of NFKB1, known to inhibit MYOD1 expression post-transcriptionally
	plays a role in muscle differentiation by controlling the MyoD pathway through multiple mechanisms, and as such, it positively regulates regenerative myogenesis
	may play an important role in controlling inflammatory response in airway epithelium
	strongly stimulated transcription on a linearized template, whereas it alleviated transcription on a supercoiled template
	stimulated both basal and activated transcription
	plays essential roles in the transition step from transcription initiation to elongation by binding to melted DNA in collaboration with GTF2E2

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	muscle development differentiation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with SIN3B, HDAC1, NCOR1, SAP30
	act through a recruitment of different HDACs
	function as a coactivator of MYOD1 by promoting the transcriptional activity of myocyte enhancer factor 2C (MEF2C)
	bound to CDK7
	bound to the C-terminal region of GTF2E2 adjacent to the basic region

cell & other

REGULATION

Other

cellular stress regulates expression of IFRD1 by a post-transcriptional control mechanism

ASSOCIATED DISORDERS

corresponding disease(s)

SCA18

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in a CF (delta F508del) patient-derived bronchial epithelial cell line

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed respiratory CF (mucoviscidosis)   targeting neutrophil effector function through IFRD1 or HDAC1 could be a promising strategy to ameliorate the debilitating chronic lung infections associated with mucoviscidosis (CF) respiratory CF (mucoviscidosis)   targeting airway epithelial cells through IFRD1 might be a new promising strategy to ameliorate the chronic airway inflammation and oxidative stress associated with CF

ANIMAL & CELL MODELS

Ifrd1 gene product is detectable in tracheal epithelium from both newborn and adult F508del-CFTR mice