Genomic structure of the human p47-phox (NCF1) gene

Blood Cells Mol Dis. 2000 Feb;26(1):37-46. doi: 10.1006/bcmd.2000.0274.


The cytosolic factor p47-phox, encoded by the NCF1 gene, is an essential component of the phagocyte NADPH-oxidase system. Upon activation of this multicomponent system, p47-phox translocates to the membrane and participates in the electron transfer from NADPH to molecular oxygen. A deficiency or absence of p47-phox is the most common autosomal form of chronic granulomatous disease (CGD). We have cloned and characterized the NCF1 gene from four bacteriophage clones, a P1 clone and genomic DNA from normal individuals. The gene is 15,236 base pairs long and includes 11 exons. It is 98.6% homologous in sequence to at least one pseudogene that maps to the same region of chromosome 7q11.23. Slightly more than half (50.37%) of the wild-type NCF1 gene consists of repetitive elements. In particular, the density of Alu sequences is high (1.4 Alu/kb); there are 21 Alu repeats interspersed through 10 introns. These findings are consistent with the observation that recombination events between the wild-type gene and its highly homologous pseudogenes account for the majority of potentially lethal mutations in p47-phox-deficient chronic granulomatous disease. Analysis of 1.96 kb of sequence 5' of the start of translation revealed a high homology (99.6%) between wild-type and pseudogene clones. Characterization of NCF1 establishes a foundation for detailed molecular analysis of p47-phox-deficient CGD patients as well as for the study of the regulation of the NCF1 gene and pseudogenes, both of which are present as full-length transcripts in normal individuals.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 5' Untranslated Regions
  • Base Sequence
  • Chromosome Mapping
  • Cloning, Molecular
  • Exons
  • Gene Library
  • Granulomatous Disease, Chronic / genetics
  • Humans
  • Introns
  • Molecular Sequence Data
  • NADPH Dehydrogenase / chemistry
  • NADPH Dehydrogenase / genetics
  • NADPH Oxidases
  • Phosphoproteins / genetics*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Analysis, DNA


  • 5' Untranslated Regions
  • Phosphoproteins
  • NADPH Oxidases
  • neutrophil cytosolic factor 1
  • NADPH Dehydrogenase

Associated data

  • GENBANK/AF184613
  • GENBANK/AF184614