NCF1 (Neutrophil cytosolic factor 1)

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Human Uniqueness Compared to "Great Apes": 
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Neutrophil cytosolic factor 1 (NCF1) is a subunit of neutrophil NADPH oxidase, an enzyme that produces superoxidase which is essential for pathogen destruction by phagocytic leukocytes. Mutation of this gene results in Chronic granulomatous Disease which is an immunodeficiency disorder. Studies of NCF1 copy number within the human population have found that more copies of NCF1 may be protective against developing rheumatoid arthritis. As the human genome has 4-6 more copies of NCF1 than other primates and other primates have a lower incidence of rheumatoid arthritis, this copy number increase could be adaptive for this disease.


Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

  • the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
  • the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
  • the emergence of the genus Homo was 2,000 thousand (2 million) years ago
  • the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
  • the common ancestor of modern humans was 100 - 300 thousand years ago

Probable Appearance: 
2,000 thousand years ago
Definite Appearance: 
6,000 thousand years ago
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Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
NCF1 Copy Number Changes


  1. Copy number variation of the gene NCF1 is associated with rheumatoid arthritis., Olsson, Lina M., Nerstedt Annika, Lindqvist Anna-Karin, Johansson Sa C. M., Medstrand Patrik, Olofsson Peter, and Holmdahl Rikard , Antioxid Redox Signal, 01/2012, Volume 16, Issue 1, p.71-8, (2012)
  2. Diversity of human copy number variation and multicopy genes., Sudmant, Peter H., Kitzman Jacob O., Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, and Eichler Evan E. , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
  3. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)., Roos, Dirk, Kuhns Douglas B., Maddalena Anne, Bustamante Jacinta, Kannengiesser Caroline, de Boer Martin, van Leeuwen Karin, M Köker Yavuz, Wolach Baruch, Roesler Joachim, et al. , Blood Cells Mol Dis, 04/2010, Volume 44, Issue 4, p.291-9, (2010)
  4. Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR., Armengol, Gemma, Knuutila Sakari, Lozano Juan-José, Madrigal Irene, and Caballín María-Rosa , Genomics, 2010 Apr, Volume 95, Issue 4, p.203-9, (2010)
  5. Relative over-reactivity of human versus chimpanzee lymphocytes: implications for the human diseases associated with immune activation, Soto, P. C., Stein L. L., Hurtado-Ziola N., Hedrick S. M., and Varki Ajit , J Immunol, Apr 15, Volume 184, Number 8, p.4185-95, (2010)
  6. Lineage-specific gene duplication and loss in human and great ape evolution., Fortna, A., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., et al. , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)