Canmetcon
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Identification
HMDB Protein ID HMDBP01763
Secondary Accession Numbers
  • 7114
Name Cytochrome b-245 heavy chain
Synonyms
  1. CGD91-phox
  2. Cytochrome b(558) subunit beta
  3. Cytochrome b558 subunit beta
  4. Heme-binding membrane glycoprotein gp91phox
  5. NADPH oxidase 2
  6. Neutrophil cytochrome b 91 kDa polypeptide
  7. Superoxide-generating NADPH oxidase heavy chain subunit
  8. gp91-1
  9. gp91-phox
  10. p22 phagocyte B-cytochrome
Gene Name CYBB
Protein Type Unknown
Biological Properties
General Function Involved in oxidoreductase activity
Specific Function Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc
Pathways
  • Thyroid hormone synthesis
  • Tyrosine Metabolism
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
electron carrier activity
iron ion binding
oxidoreductase activity
fad or fadh2 binding
Process
metabolic process
oxidation reduction
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs CYBB
Gene Sequence
>1713 bp
ATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATTCTGGTTTGGCTGGGG
TTGAACGTCTTCCTCTTTGTCTGGTATTACCGGGTTTATGATATTCCACCTAAGTTCTTT
TACACAAGAAAACTTCTTGGGTCAGCACTGGCACTGGCCAGGGCCCCTGCAGCCTGCCTG
AATTTCAACTGCATGCTGATTCTCTTGCCAGTCTGTCGAAATCTGCTGTCCTTCCTCAGG
GGTTCCAGTGCGTGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTT
CATAAAATGGTGGCATGGATGATTGCACTTCACTCTGCGATTCACACCATTGCACATCTA
TTTAATGTGGAATGGTGTGTGAATGCCCGAGTCAATAATTCTGATCCTTATTCAGTAGCA
CTCTCTGAACTTGGAGACAGGCAAAATGAAAGTTATCTCAATTTTGCTCGAAAGAGAATA
AAGAACCCTGAAGGAGGCCTGTACCTGGCTGTGACCCTGTTGGCAGGCATCACTGGAGTT
GTCATCACGCTGTGCCTCATATTAATTATCACTTCCTCCACCAAAACCATCCGGAGGTCT
TACTTTGAAGTCTTTTGGTACACACATCATCTCTTTGTGATCTTCTTCATTGGCCTTGCC
ATCCATGGAGCTGAACGAATTGTACGTGGGCAGACCGCAGAGAGTTTGGCTGTGCATAAT
ATAACAGTTTGTGAACAAAAAATCTCAGAATGGGGAAAAATAAAGGAATGCCCAATCCCT
CAGTTTGCTGGAAACCCTCCTATGACTTGGAAATGGATAGTGGGTCCCATGTTTCTGTAT
CTCTGTGAGAGGTTGGTGCGGTTTTGGCGATCTCAACAGAAGGTGGTCATCACCAAGGTG
GTCACTCACCCTTTCAAAACCATCGAGCTACAGATGAAGAAGAAGGGGTTCAAAATGGAA
GTGGGACAATACATTTTTGTCAAGTGCCCAAAGGTGTCCAAGCTGGAGTGGCACCCTTTT
ACACTGACATCCGCCCCTGAGGAAGACTTCTTTAGTATCCATATCCGCATCGTTGGGGAC
TGGACAGAGGGGCTGTTCAATGCTTGTGGCTGTGATAAGCAGGAGTTTCAAGATGCGTGG
AAACTACCTAAGATAGCGGTTGATGGGCCCTTTGGCACTGCCAGTGAAGATGTGTTCAGC
TATGAGGTGGTGATGTTAGTGGGAGCAGGGATTGGGGTCACACCCTTCGCATCCATTCTC
AAGTCAGTCTGGTACAAATATTGCAATAACGCCACCAATCTGAAGCTCAAAAAGATCTAC
TTCTACTGGCTGTGCCGGGACACACATGCCTTTGAGTGGTTTGCAGATCTGCTGCAACTG
CTGGAGAGCCAGATGCAGGAAAGGAACAATGCCGGCTTCCTCAGCTACAACATCTACCTC
ACTGGCTGGGATGAGTCTCAGGCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGAT
GTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTC
AAGACAATTGCAAGTCAACACCCTAATACCAGAATAGGAGTTTTCCTCTGTGGACCTGAA
GCCTTGGCTGAAACCCTGAGTAAACAAAGCATCTCCAACTCTGAGTCTGGCCCTCGGGGA
GTGCATTTCATTTTCAACAAGGAAAACTTCTAA
Protein Properties
Number of Residues 570
Molecular Weight 65335.4
Theoretical pI 8.76
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 9-29
  • 49-69
  • 103-123
  • 170-190
  • 201-221
  • 262-282
Protein Sequence
>Cytochrome b-245 heavy chain
MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL
NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL
FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV
VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD
WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE
ALAETLSKQSISNSESGPRGVHFIFNKENF
GenBank ID Protein 6996021
UniProtKB/Swiss-Prot ID P04839
UniProtKB/Swiss-Prot Entry Name CY24B_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_000397.3
GeneCard ID CYBB
GenAtlas ID CYBB
HGNC ID HGNC:2578
References
General References
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  4. Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH: Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3-9;322(6074):32-8. [PubMed:2425263 ]
  5. Jirapongsananuruk O, Niemela JE, Malech HL, Fleisher TA: CYBB mutation analysis in X-linked chronic granulomatous disease. Clin Immunol. 2002 Jul;104(1):73-6. [PubMed:12139950 ]
  6. Dinauer MC, Orkin SH, Brown R, Jesaitis AJ, Parkos CA: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature. 1987 Jun 25-Jul 1;327(6124):717-20. [PubMed:3600768 ]
  7. Kumatori A, Faizunnessa NN, Suzuki S, Moriuchi T, Kurozumi H, Nakamura M: Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. Genomics. 1998 Oct 15;53(2):123-8. [PubMed:9790760 ]
  8. Teahan C, Rowe P, Parker P, Totty N, Segal AW: The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. Nature. 1987 Jun 25-Jul 1;327(6124):720-1. [PubMed:3600769 ]
  9. Henderson LM, Meech RW: Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway. J Gen Physiol. 1999 Dec;114(6):771-86. [PubMed:10578014 ]
  10. Dinauer MC, Curnutte JT, Rosen H, Orkin SH: A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest. 1989 Dec;84(6):2012-6. [PubMed:2556453 ]
  11. Bolscher BG, de Boer M, de Klein A, Weening RS, Roos D: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. Blood. 1991 Jun 1;77(11):2482-7. [PubMed:1710153 ]
  12. Ariga T, Sakiyama Y, Tomizawa K, Imajoh-Ohmi S, Kanegasaki S, Matsumoto S: A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease. Eur J Pediatr. 1993 Jun;152(6):469-72. [PubMed:8101486 ]
  13. Ariga T, Sakiyama Y, Matsumoto S: Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. Hum Genet. 1994 Oct;94(4):441. [PubMed:7927345 ]
  14. Leusen JH, de Boer M, Bolscher BG, Hilarius PM, Weening RS, Ochs HD, Roos D, Verhoeven AJ: A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. J Clin Invest. 1994 May;93(5):2120-6. [PubMed:8182143 ]
  15. Hui YF, Chan SY, Lau YL: Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. Blood. 1996 Nov 15;88(10):4021-8. [PubMed:8916969 ]
  16. Jendrossek V, Ritzel A, Neubauer B, Heyden S, Gahr M: An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity. Eur J Haematol. 1997 Feb;58(2):78-85. [PubMed:9111587 ]
  17. Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet. 1998 Jun;62(6):1320-31. [PubMed:9585602 ]
  18. Tsuda M, Kaneda M, Sakiyama T, Inana I, Owada M, Kiryu C, Shiraishi T, Kakinuma K: A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease. Hum Genet. 1998 Oct;103(4):377-81. [PubMed:9856476 ]
  19. Dusi S, Nadalini KA, Donini M, Zentilin L, Wientjes FB, Roos D, Giacca M, Rossi F: Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients. J Immunol. 1998 Nov 1;161(9):4968-74. [PubMed:9794433 ]
  20. Ariga T, Furuta H, Cho K, Sakiyama Y: Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers. Pediatr Res. 1998 Jul;44(1):85-92. [PubMed:9667376 ]
  21. Roesler J, Heyden S, Burdelski M, Schafer H, Kreth HW, Lehmann R, Paul D, Marzahn J, Gahr M, Rosen-Wolff A: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. Exp Hematol. 1999 Mar;27(3):505-11. [PubMed:10089913 ]
  22. Patino PJ, Perez JE, Lopez JA, Condino-Neto A, Grumach AS, Botero JH, Curnutte JT, Garcia de Olarte D: Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. Hum Mutat. 1999;13(1):29-37. [PubMed:9888386 ]
  23. Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. Hum Genet. 2000 May;106(5):473-81. [PubMed:10914676 ]
  24. Gerard B, El Benna J, Alcain F, Gougerot-Pocidalo MA, Grandchamp B, Chollet-Martin S: Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). Hum Mutat. 2001 Aug;18(2):163. [PubMed:11462241 ]
  25. Stasia MJ, Lardy B, Maturana A, Rousseau P, Martel C, Bordigoni P, Demaurex N, Morel F: Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. Biochim Biophys Acta. 2002 Apr 24;1586(3):316-30. [PubMed:11997083 ]
  26. Bionda C, Li XJ, van Bruggen R, Eppink M, Roos D, Morel F, Stasia MJ: Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. Hum Genet. 2004 Oct;115(5):418-27. Epub 2004 Aug 24. [PubMed:15338276 ]