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FLASH GENE

Symbol

NCF4

contributors: SGE - updated : 14-02-2008

HGNC name	neutrophil cytosolic factor 4, 40kDa
HGNC id	7662

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q13.1      Physical location : 37.257.029 - 37.274.058
Synonym symbol(s)	NCF, MGC3810, P40PHOX, SH3PXD4
EC.number	1.6.99.-

DNA

TYPE	functioning gene
STRUCTURE	17.00 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 10 splicing 1386 39 339 - Wientjes lacking an internal coding segment compared to variant 2, leading to a translation frameshift isoform 1, has a distinct and shorter C-terminus as compared to isoform 2 variant 2 9 splicing 1646 38.8 348 - Wientjes isoform 2 lacking the PC (Phox ans CDC24p) motif, which may be important for the interaction with NCF2

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil

cell lineage	myeloid cell lineage
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one PX (phox homology) domain that can bind phospholipid products of the PI(3) kinase
	one SH3 domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to chimpanzee NCF4 (88.9pc)
	homolog to dog NCF4 (90.0pc)
	homolog to murine Ncf4 (86.7pc)

Homologene

FAMILY

CATEGORY

enzyme , immunity/defense , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	translocated to the plasma membrane after activation

basic FUNCTION	activating the NADPH oxidase during FcgammaIIA receptor-induced phagocytosis
	reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
	negatively regulating the NADPH oxidase upon phosphorylation

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

inflammation

text	granulocytic differentiation

PATHWAY

metabolism

signaling

a component	component of NADPH oxidase system cypb245
	forming a cytosolic precomplex with NCF1 and NCF2
	regulatory component of an intracellular complex made of CYBB, NCF1, NCF2, CYBA in unstimulated endothelial cells

INTERACTION

DNA

RNA

small molecule

protein	associating with SPT1 for granulocytic differentiation
	interacting with the actin cytoskeleton via the PX doamin, and stabilizing the NADPH oxidase
	binding of the PtdIns(3)P poteintiates superoxide production upon agonist stimulation

cell & other

REGULATION

activated by

SPI1(required for NCF4 gene transcription in myeloid cells)

inhibited by

phosphorylation

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         mutation of Arg-57 in the PX domain to Gln produced a dominant inhibitory effect on agonist-induced superoxide production and membrane translocation of P47Phox and P67Phox

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS