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Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.


RefSeq Accession Definition Services Price Order
NM_000397 Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA. ORF Sequence $496.77
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000397.3, 163854302
Length 4353 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.
Product cytochrome b-245 heavy chain
Comment

Summary: Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008].

RefSeq NP_000388.2
CDS 62..1774
Misc Feature(1)17..19
Misc Feature(2)17..19
Misc Feature(3)86..148
Misc Feature(4)86..148
Misc Feature(5)248..721
Misc Feature(6)263..265
Misc Feature(7)314..316
Misc Feature(8)368..430
Misc Feature(9)569..631
Misc Feature(10)662..724
Misc Feature(11)845..907
Misc Feature(12)950..1771
Misc Feature(13)order(1031..1033,1073..1084,1121..1129,1136..1147,
Misc Feature(14)order(1073..1075,1079..1084)
Misc Feature(15)1277..1309
Misc Feature(16)order(1277..1279,1289..1300,1304..1306)
Misc Feature(17)order(1292..1297,1391..1399,1673..1678)
Misc Feature(18)order(1385..1390,1397..1399)
Exon (1)1..106
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (2)107..202
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (3)203..313
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (4)314..398
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (5)399..544
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (6)545..735
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (7)736..865
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (8)866..958
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (9)959..1212
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (10)1213..1375
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (11)1376..1522
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (12)1523..1647
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Exon (13)1648..4318
Gene:CYBB
Gene Synonym:AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
Translation MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE ALAETLSKQSISNSESGPRGVHFIFNKENF
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Position Chain Variation Link
76+, tdbSNP:193922446
119+dbSNP:
119+c, gdbSNP:151344455
127+c, tdbSNP:193922450
182+g, tdbSNP:151344453
222+dbSNP:
222+g, tdbSNP:151344479
223+c, gdbSNP:151344456
225+a, cdbSNP:151344480
231+a, cdbSNP:151344481
236+c, tdbSNP:151344457
238+c, gdbSNP:151344488
278+c, tdbSNP:137854588
284+a, cdbSNP:141798777
362+dbSNP:
362+c, tdbSNP:137854594
363+a, gdbSNP:137854591
417+dbSNP:
417+a, gdbSNP:151344458
449+a, cdbSNP:180899069
450+c, gdbSNP:193922448
527+a, gdbSNP:137854590
593+dbSNP:
593+a, cdbSNP:151344497
596+a, gdbSNP:151344491
639+c, tdbSNP:151344493
654+a, gdbSNP:146275471
668+g, tdbSNP:193922449
674+a, tdbSNP:151344496
686+c, tdbSNP:137854587
687+a, gdbSNP:151344482
688+a, tdbSNP:151344459
715+a, cdbSNP:35080474
725+a, c, tdbSNP:151344460
726+a, gdbSNP:151344462
728+g, tdbSNP:151344463
729+g, tdbSNP:151344464
732+c, gdbSNP:151344483
735+a, tdbSNP:151344494
737+dbSNP:
737+c, tdbSNP:137854592
747+a, gdbSNP:139670417
753+a, cdbSNP:151344498
791+c, tdbSNP:151344465
792+a, c, gdbSNP:137854589
805+c, tdbSNP:190924506
921+dbSNP:
921+a, gdbSNP:151043920
968+dbSNP:
968+a, cdbSNP:137854595
972+c, gdbSNP:137854596
980+a, cdbSNP:151344489
986+a, gdbSNP:151344466
1009+g, tdbSNP:139761069
1026+a, gdbSNP:151344467
1030+a, gdbSNP:144764222
1034+a, tdbSNP:151344468
1058+c, tdbSNP:151344469
1063+a, gdbSNP:2228117
1073+c, tdbSNP:151344484
1077+a, cdbSNP:151344470
1086+a, tdbSNP:151344495
1092+c, tdbSNP:151344485
1128+c, gdbSNP:151344471
1151+c, gdbSNP:141756032
1201..1202+, gdbSNP:193922445
1220+dbSNP:
1220+a, gdbSNP:145620748
1227+a, c, gdbSNP:137854586
1275+g, tdbSNP:151344472
1281+c, tdbSNP:200614534
1283+a, gdbSNP:151344473
1284+a, gdbSNP:151344474
1305+a, c, tdbSNP:137854585
1320+c, tdbSNP:151344486
1325+c, tdbSNP:151344475
1381+dbSNP:
1381+c, tdbSNP:200129367
1418+c, tdbSNP:151344476
1437+a, gdbSNP:145417018
1475+a, gdbSNP:13306300
1538+dbSNP:
1538+a, gdbSNP:148817144
1557+a, cdbSNP:201356986
1560+a, gdbSNP:137854593
1564+a, gdbSNP:187491185
1575+g, tdbSNP:151344490
1607+c, tdbSNP:151344487
1609+g, tdbSNP:151344477
1612+a, tdbSNP:151344452
1634+a, tdbSNP:140677309
1662+dbSNP:
1662+a, tdbSNP:151344478
1670+c, tdbSNP:151344454
1678+c, tdbSNP:187038548
1695+a, cdbSNP:147991211
1698+c, tdbSNP:151344492
1762+a, gdbSNP:140774378
1765+a, gdbSNP:200528487
1815+a, cdbSNP:201232380
2158+c, tdbSNP:192401117
2231+a, gdbSNP:34407298
2333+g, tdbSNP:5964151
2536+a, gdbSNP:148238930
2635+a, gdbSNP:17146280
2765+a, tdbSNP:147429025
2932+c, tdbSNP:184252383
3206+a, gdbSNP:34920432
3307+, adbSNP:35782029
3391+a, gdbSNP:190415874
3419+a, gdbSNP:35278070
3447+c, tdbSNP:34380982
3533+c, tdbSNP:41303695
3615+c, tdbSNP:35621886
3849+a, gdbSNP:184490051
4064+a, gdbSNP:79650864
4066..4067+, ttdbSNP:71817402
4066+, tdbSNP:11338914
4069+c, tdbSNP:74486909
4149+a, cdbSNP:143812152
4223+c, gdbSNP:188865354
Gene SymbolCYBB
Gene SynonymAMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
ChromosomeX
Locus MapXp21.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000397 Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA. Full Length $1523.55
ORF Sequence $496.77
Title Reduced atherosclerotic burden in subjects with genetically determined low oxidative stress .
Author Violi,F., Pignatelli,P., Pignata,C., Plebani,A., Rossi,P., Sanguigni,V., Carnevale,R., Soresina,A., Finocchi,A., Cirillo,E., Catasca,E., Angelico,F. and Loffredo,L.
Journal Arterioscler. Thromb. Vasc. Biol. 33 (2), 406-412 (2013)
Title NADPH oxidase NOX2 defines a new antagonistic role for reactive oxygen species and cAMP/PKA in the regulation of insulin secretion .
Author Li,N., Li,B., Brun,T., Deffert-Delbouille,C., Mahiout,Z., Daali,Y., Ma,X.J., Krause,K.H. and Maechler,P.
Journal Diabetes 61 (11), 2842-2850 (2012)
Title NOX2 (gp91phox) is a predominant O2 sensor in a human airway chemoreceptor cell line: biochemical, molecular, and electrophysiological evidence .
Author Buttigieg,J., Pan,J., Yeger,H. and Cutz,E.
Journal Am. J. Physiol. Lung Cell Mol. Physiol. 303 (7), L598-L607 (2012)
Title NOX2beta: A novel splice variant of NOX2 that regulates NADPH oxidase activity in macrophages .
Author Harrison,C.B., Selemidis,S., Guida,E., King,P.T., Sobey,C.G. and Drummond,G.R.
Journal PLoS ONE 7 (10), E48326 (2012)
Title Molecular interface of S100A8 with cytochrome b558 and NADPH oxidase activation .
Author Berthier,S., Nguyen,M.V., Baillet,A., Hograindleur,M.A., Paclet,M.H., Polack,B. and Morel,F.
Journal PLoS ONE 7 (7), E40277 (2012)
Title Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease .
Author Bolscher,B.G., de Boer,M., de Klein,A., Weening,R.S. and Roos,D.
Journal Blood 77 (11), 2482-2487 (1991)
Title The HIV core protein p24 inhibits interferon-gamma-induced increase of HLA-DR and cytochrome b heavy chain mRNA levels in the human monocyte-like cell line THP1 .
Author Nong,Y., Kandil,O., Tobin,E.H., Rose,R.M. and Remold,H.G.
Journal Cell. Immunol. 132 (1), 10-16 (1991)
Title Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease .
Author Dinauer,M.C., Pierce,E.A., Bruns,G.A., Curnutte,J.T. and Orkin,S.H.
Journal J. Clin. Invest. 86 (5), 1729-1737 (1990)
Title A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease .
Author Dinauer,M.C., Curnutte,J.T., Rosen,H. and Orkin,S.H.
Journal J. Clin. Invest. 84 (6), 2012-2016 (1989)
Title Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location .
Author Royer-Pokora,B., Kunkel,L.M., Monaco,A.P., Goff,S.C., Newburger,P.E., Baehner,R.L., Cole,F.S., Curnutte,J.T. and Orkin,S.H.
Journal Nature 322 (6074), 32-38 (1986)

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