p47phox deficiency

Gene Information

Names

HUGO name: NCF1

Alias(es):

  • p47phox
  • neutrophil cytosolic factor 1
  • Neutrophil cytosol factor 1 (NCF-1)
  • Neutrophil NADPH oxidase factor 1
  • 47 kDa neutrophil oxidase factor
  • p47-phox
  • NCF-47K
  • 47 kDa autosomal chronic granulomatous disease protein

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

NCF2, NCF1, and a membrane bound cytochrome B558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Subcellular location:

Cytoplasmic

Structures (PDB)

1GD5 Solution Structure Of The Px Domain From Human P47Phox Nadph Oxidase

Domains

Px domain: 4-125

    Asp/glu-rich (highly acidic) domain: 211-254

      Arg/lys-rich (highly basic) domain: 292-390

        SH3 1 domain: 156-215

          SH3 2 domain: 226-285

            Expression

            Expression pattern for human

            Tissue Expression (%) Clones
            B cells from Burkitt lymphoma 25.57 7:2143
            blood, lymphocyte 12.44 18:11328
            leukocyte 8.71 10:8982
            blood, white cells 8.60 1:910
            tonsil, enriched for germinal center B-cells 8.36 39:36522
            colonic mucosa with ulcerative colitus 6.43 1:1218
            B-cells 6.15 13:16533
            lymph 5.71 47:64395
            leukopheresis 3.44 2:4557
            osteoarthritic cartilage 2.61 1:2999

            Animal models

            Mouse

            Fly

            C. elegans