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P04839

- CY24B_HUMAN

UniProt

P04839 - CY24B_HUMAN

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Protein
Cytochrome b-245 heavy chain
Gene
CYBB, NOX2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Cofactori

FAD Inferred.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi101 – 1011Iron (heme axial ligand) Inferred
Metal bindingi115 – 1151Iron (heme axial ligand) Inferred
Metal bindingi209 – 2091Iron (heme axial ligand) Inferred
Metal bindingi222 – 2221Iron (heme axial ligand) Inferred

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi338 – 3447FAD Reviewed prediction

GO - Molecular functioni

  1. flavin adenine dinucleotide binding Source: BHF-UCL
  2. heme binding Source: BHF-UCL
  3. metal ion binding Source: UniProtKB-KW
  4. protein binding Source: BHF-UCL
  5. protein heterodimerization activity Source: BHF-UCL
  6. superoxide-generating NADPH oxidase activity Source: BHF-UCL
  7. voltage-gated ion channel activity Source: UniProtKB-KW

GO - Biological processi

  1. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
  2. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
  3. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
  4. hydrogen peroxide biosynthetic process Source: Ensembl
  5. inflammatory response Source: UniProtKB
  6. innate immune response Source: BHF-UCL
  7. interaction with host Source: Reactome
  8. oxidation-reduction process Source: BHF-UCL
  9. phagosome maturation Source: Reactome
  10. respiratory burst Source: BHF-UCL
  11. response to drug Source: Ensembl
  12. response to nutrient Source: Ensembl
  13. superoxide anion generation Source: BHF-UCL
  14. superoxide metabolic process Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Oxidoreductase, Voltage-gated channel

Keywords - Biological processi

Electron transport, Ion transport, Transport

Keywords - Ligandi

FAD, Flavoprotein, Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiREACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
REACT_121256. Phagosomal maturation (early endosomal stage).

Protein family/group databases

PeroxiBasei5962. HsNOx02.
TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-245 heavy chain (EC:1.-.-.-)
Alternative name(s):
CGD91-phox
Cytochrome b(558) subunit beta
Short name:
Cytochrome b558 subunit beta
Heme-binding membrane glycoprotein gp91phox
NADPH oxidase 2
Neutrophil cytochrome b 91 kDa polypeptide
Superoxide-generating NADPH oxidase heavy chain subunit
gp91-1
gp91-phox
p22 phagocyte B-cytochrome
Gene namesi
Name:CYBB
Synonyms:NOX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:2578. CYBB.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 87Cytoplasmic Reviewed prediction
Transmembranei9 – 2921Helical; Reviewed prediction
Add
BLAST
Topological domaini30 – 4819Extracellular Reviewed prediction
Add
BLAST
Transmembranei49 – 6921Helical; Reviewed prediction
Add
BLAST
Topological domaini70 – 10233Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei103 – 12321Helical; Reviewed prediction
Add
BLAST
Topological domaini124 – 16946Extracellular Reviewed prediction
Add
BLAST
Transmembranei170 – 19021Helical; Reviewed prediction
Add
BLAST
Topological domaini191 – 20010Cytoplasmic Reviewed prediction
Transmembranei201 – 22121Helical; Reviewed prediction
Add
BLAST
Topological domaini222 – 26140Extracellular Reviewed prediction
Add
BLAST
Transmembranei262 – 28221Helical; Reviewed prediction
Add
BLAST
Topological domaini283 – 570288Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: Ensembl
  2. NADPH oxidase complex Source: BHF-UCL
  3. dendrite Source: Ensembl
  4. integral component of plasma membrane Source: UniProtKB
  5. mitochondrion Source: Ensembl
  6. neuronal cell body Source: Ensembl
  7. phagocytic vesicle membrane Source: Reactome
  8. rough endoplasmic reticulum Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
Note: The disease is caused by mutations affecting the gene represented in this entry.20 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181W → C in CGD.
VAR_047264
Natural varianti20 – 201G → R in CGD. 1 Publication
Corresponds to variant rs151344455 [ dbSNP | Ensembl ].
VAR_007873
Natural varianti41 – 411Y → D in CGD. 1 Publication
Corresponds to variant rs151344453 [ dbSNP | Ensembl ].
VAR_025613
Natural varianti54 – 552Missing in CGD.
VAR_047265
Natural varianti54 – 541R → M in CGD. 2 Publications
Corresponds to variant rs151344479 [ dbSNP | Ensembl ].
VAR_025614
Natural varianti54 – 541R → S in CGD. 1 Publication
Corresponds to variant rs151344456 [ dbSNP | Ensembl ].
VAR_007874
Natural varianti55 – 551A → D in CGD. 2 Publications
Corresponds to variant rs151344480 [ dbSNP | Ensembl ].
VAR_025615
Natural varianti57 – 571A → E in CGD. 3 Publications
Corresponds to variant rs151344481 [ dbSNP | Ensembl ].
VAR_008845
Natural varianti59 – 591C → R in CGD. 1 Publication
Corresponds to variant rs151344457 [ dbSNP | Ensembl ].
VAR_007875
Natural varianti59 – 591C → W in CGD. 1 Publication
Corresponds to variant rs151344488 [ dbSNP | Ensembl ].
VAR_047266
Natural varianti101 – 1011H → R in CGD. 1 Publication
Corresponds to variant rs137854591 [ dbSNP | Ensembl ].
VAR_002432
Natural varianti101 – 1011H → Y in CGD. 2 Publications
Corresponds to variant rs137854594 [ dbSNP | Ensembl ].
VAR_007876
Natural varianti119 – 1191H → R in CGD. 1 Publication
Corresponds to variant rs151344458 [ dbSNP | Ensembl ].
VAR_007877
Natural varianti156 – 1561A → T in CGD. 2 Publications
Corresponds to variant rs137854590 [ dbSNP | Ensembl ].
VAR_002433
Natural varianti179 – 1791G → R in CGD. 1 Publication
Corresponds to variant rs151344491 [ dbSNP | Ensembl ].
VAR_047267
Natural varianti193 – 1931S → F in CGD. 1 Publication
Corresponds to variant rs151344493 [ dbSNP | Ensembl ].
VAR_047268
Natural varianti205 – 2051F → I in CGD. 1 Publication
Corresponds to variant rs151344496 [ dbSNP | Ensembl ].
VAR_047269
Natural varianti209 – 2091H → Q in CGD. 1 Publication
Corresponds to variant rs151344459 [ dbSNP | Ensembl ].
VAR_007878
Natural varianti209 – 2091H → R in CGD. 1 Publication
Corresponds to variant rs151344482 [ dbSNP | Ensembl ].
VAR_025616
Natural varianti209 – 2091H → Y in CGD. 1 Publication
Corresponds to variant rs137854587 [ dbSNP | Ensembl ].
VAR_002434
Natural varianti215 – 2151Missing in CGD. 2 Publications
VAR_007879
Natural varianti222 – 2221H → N in CGD. 1 Publication
Corresponds to variant rs151344460 [ dbSNP | Ensembl ].
VAR_007880
Natural varianti222 – 2221H → R in CGD. 2 Publications
Corresponds to variant rs151344462 [ dbSNP | Ensembl ].
VAR_007881
Natural varianti222 – 2221H → Y in CGD. 1 Publication
Corresponds to variant rs151344460 [ dbSNP | Ensembl ].
VAR_007882
Natural varianti223 – 2231G → L in CGD; requires 2 nucleotide substitutions. 1 Publication
Corresponds to variants rs151344463 [ dbSNP | Ensembl ] and rs151344464 [ dbSNP | Ensembl ].
VAR_007883
Natural varianti224 – 2241A → G in CGD. 1 Publication
Corresponds to variant rs151344483 [ dbSNP | Ensembl ].
VAR_025617
Natural varianti225 – 2251E → V in CGD. 1 Publication
Corresponds to variant rs151344494 [ dbSNP | Ensembl ].
VAR_002435
Natural varianti244 – 2441C → R in CGD. 1 Publication
Corresponds to variant rs151344465 [ dbSNP | Ensembl ].
VAR_007884
Natural varianti244 – 2441C → S in CGD. 1 Publication
Corresponds to variant rs137854589 [ dbSNP | Ensembl ].
VAR_002436
Natural varianti244 – 2441C → Y in CGD. 1 Publication
Corresponds to variant rs137854589 [ dbSNP | Ensembl ].
VAR_002437
Natural varianti298 – 3025Missing in CGD.
VAR_047270
Natural varianti303 – 3031H → N in CGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished. 2 Publications
Corresponds to variant rs137854595 [ dbSNP | Ensembl ].
VAR_016880
Natural varianti304 – 3041P → R in CGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated. 2 Publications
Corresponds to variant rs137854596 [ dbSNP | Ensembl ].
VAR_016881
Natural varianti307 – 3071T → P in CGD. 1 Publication
Corresponds to variant rs151344489 [ dbSNP | Ensembl ].
VAR_047271
Natural varianti309 – 3091E → K in CGD. 2 Publications
Corresponds to variant rs151344466 [ dbSNP | Ensembl ].
VAR_007885
Natural varianti315 – 3151Missing in CGD. 1 Publication
VAR_047272
Natural varianti322 – 3221G → E in CGD. 1 Publication
Corresponds to variant rs151344467 [ dbSNP | Ensembl ].
VAR_007886
Natural varianti325 – 3251I → F in CGD. 1 Publication
Corresponds to variant rs151344468 [ dbSNP | Ensembl ].
VAR_007887
Natural varianti333 – 3331S → P in CGD. 1 Publication
Corresponds to variant rs151344469 [ dbSNP | Ensembl ].
VAR_007888
Natural varianti338 – 3381H → Y in CGD. 2 Publications
Corresponds to variant rs151344484 [ dbSNP | Ensembl ].
VAR_025618
Natural varianti339 – 3391P → H in CGD. 5 Publications
Corresponds to variant rs151344470 [ dbSNP | Ensembl ].
VAR_002438
Natural varianti342 – 3421L → Q in CGD. 1 Publication
Corresponds to variant rs151344495 [ dbSNP | Ensembl ].
VAR_047273
Natural varianti344 – 3441S → F in CGD. 2 Publications
Corresponds to variant rs151344485 [ dbSNP | Ensembl ].
VAR_025619
Natural varianti356 – 3561R → P in CGD. 1 Publication
Corresponds to variant rs151344471 [ dbSNP | Ensembl ].
VAR_007889
Natural varianti389 – 3891G → A in CGD. 1 Publication
Corresponds to variant rs137854586 [ dbSNP | Ensembl ].
VAR_002439
Natural varianti389 – 3891G → E in CGD. 1 Publication
Corresponds to variant rs137854586 [ dbSNP | Ensembl ].
VAR_025621
Natural varianti405 – 4051M → R in CGD. 1 Publication
Corresponds to variant rs151344472 [ dbSNP | Ensembl ].
VAR_007890
Natural varianti408 – 4081G → E in CGD. 1 Publication
Corresponds to variant rs151344474 [ dbSNP | Ensembl ].
VAR_007891
Natural varianti408 – 4081G → R in CGD. 2 Publications
Corresponds to variant rs151344473 [ dbSNP | Ensembl ].
VAR_007892
Natural varianti415 – 4151P → H in CGD. 2 Publications
Corresponds to variant rs137854585 [ dbSNP | Ensembl ].
VAR_002440
Natural varianti415 – 4151P → L in CGD. 1 Publication
Corresponds to variant rs137854585 [ dbSNP | Ensembl ].
VAR_007893
Natural varianti420 – 4201L → P in CGD. 1 Publication
Corresponds to variant rs151344486 [ dbSNP | Ensembl ].
VAR_025622
Natural varianti422 – 4221S → P in CGD. 1 Publication
Corresponds to variant rs151344475 [ dbSNP | Ensembl ].
VAR_007894
Natural varianti453 – 4531W → R in CGD. 1 Publication
Corresponds to variant rs151344476 [ dbSNP | Ensembl ].
VAR_007895
Natural varianti488 – 4881A → D in CGD. 1 Publication
VAR_068012
Natural varianti500 – 5001D → E in CGD. 1 Publication
VAR_068013
Natural varianti500 – 5001D → G in CGD. 1 Publication
Corresponds to variant rs137854593 [ dbSNP | Ensembl ].
VAR_002441
Natural varianti505 – 5051L → R in CGD. 1 Publication
Corresponds to variant rs151344490 [ dbSNP | Ensembl ].
VAR_047275
Natural varianti516 – 5161W → C in CGD. 1 Publication
Corresponds to variant rs151344477 [ dbSNP | Ensembl ].
VAR_007896
Natural varianti516 – 5161W → R in CGD. 1 Publication
Corresponds to variant rs151344487 [ dbSNP | Ensembl ].
VAR_025623
Natural varianti534 – 5341V → D in CGD. 1 Publication
Corresponds to variant rs151344478 [ dbSNP | Ensembl ].
VAR_007897
Natural varianti537 – 5371C → R in CGD. 2 Publications
Corresponds to variant rs151344454 [ dbSNP | Ensembl ].
VAR_007898
Natural varianti546 – 5461L → P in CGD. 1 Publication
Corresponds to variant rs151344492 [ dbSNP | Ensembl ].
VAR_047276
Mycobacteriosis atypical X-linked 2 (AMCBX2) [MIM:300645]: A rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781T → P in AMCBX2. 1 Publication
Corresponds to variant rs151344497 [ dbSNP | Ensembl ].
VAR_065365
Natural varianti231 – 2311Q → P in AMCBX2. 1 Publication
Corresponds to variant rs151344498 [ dbSNP | Ensembl ].
VAR_065366

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

MIMi300645. phenotype.
306400. phenotype.
Orphaneti379. Chronic granulomatous disease.
319623. X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency.
PharmGKBiPA27076.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 570569Cytochrome b-245 heavy chain
PRO_0000210145Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi132 – 1321N-linked (GlcNAc...)1 Publication
Glycosylationi149 – 1491N-linked (GlcNAc...)1 Publication
Glycosylationi240 – 2401N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Glycosylated.
Phosphorylated on Ser and Thr residues.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP04839.
PaxDbiP04839.
PeptideAtlasiP04839.
PRIDEiP04839.

PTM databases

PhosphoSiteiP04839.

Expressioni

Tissue specificityi

Detected in neutrophils (at protein level).1 Publication

Gene expression databases

ArrayExpressiP04839.
BgeeiP04839.
CleanExiHS_CYBB.
GenevestigatoriP04839.

Organism-specific databases

HPAiCAB032510.

Interactioni

Subunit structurei

Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1. Interacts with calprotectin (S100A8/9). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex.3 Publications

Protein-protein interaction databases

BioGridi107916. 4 interactions.
DIPiDIP-42005N.
IntActiP04839. 1 interaction.
MINTiMINT-191276.
STRINGi9606.ENSP00000367851.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi393 – 3986
Beta strandi401 – 4099
Helixi410 – 4123
Helixi413 – 42917
Beta strandi438 – 4469
Turni448 – 4514
Helixi452 – 46716
Beta strandi473 – 4808
Beta strandi509 – 5124
Helixi516 – 52611
Beta strandi531 – 5388
Helixi540 – 55213
Beta strandi562 – 5665

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3A1FX-ray2.00A385-570[»]
ProteinModelPortaliP04839.
SMRiP04839. Positions 385-570.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini54 – 286233Ferric oxidoreductase
Add
BLAST
Domaini287 – 397111FAD-binding FR-type
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG287712.
HOGENOMiHOG000216669.
HOVERGENiHBG003760.
InParanoidiP04839.
KOiK08008.
OMAiACPIPQF.
PhylomeDBiP04839.
TreeFamiTF105354.

Family and domain databases

InterProiIPR000778. Cyt_b245_heavy_chain.
IPR013112. FAD-bd_8.
IPR017927. Fd_Rdtase_FAD-bd.
IPR013130. Fe3_Rdtase_TM_dom.
IPR013121. Fe_red_NAD-bd_6.
IPR017938. Riboflavin_synthase-like_b-brl.
[Graphical view]
PfamiPF08022. FAD_binding_8. 1 hit.
PF01794. Ferric_reduct. 1 hit.
PF08030. NAD_binding_6. 1 hit.
[Graphical view]
PRINTSiPR00466. GP91PHOX.
SUPFAMiSSF63380. SSF63380. 1 hit.
PROSITEiPS51384. FAD_FR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P04839-1 [UniParc]FASTAAdd to Basket

« Hide

MGNWAVNEGL SIFVILVWLG LNVFLFVWYY RVYDIPPKFF YTRKLLGSAL    50
ALARAPAACL NFNCMLILLP VCRNLLSFLR GSSACCSTRV RRQLDRNLTF 100
HKMVAWMIAL HSAIHTIAHL FNVEWCVNAR VNNSDPYSVA LSELGDRQNE 150
SYLNFARKRI KNPEGGLYLA VTLLAGITGV VITLCLILII TSSTKTIRRS 200
YFEVFWYTHH LFVIFFIGLA IHGAERIVRG QTAESLAVHN ITVCEQKISE 250
WGKIKECPIP QFAGNPPMTW KWIVGPMFLY LCERLVRFWR SQQKVVITKV 300
VTHPFKTIEL QMKKKGFKME VGQYIFVKCP KVSKLEWHPF TLTSAPEEDF 350
FSIHIRIVGD WTEGLFNACG CDKQEFQDAW KLPKIAVDGP FGTASEDVFS 400
YEVVMLVGAG IGVTPFASIL KSVWYKYCNN ATNLKLKKIY FYWLCRDTHA 450
FEWFADLLQL LESQMQERNN AGFLSYNIYL TGWDESQANH FAVHHDEEKD 500
VITGLKQKTL YGRPNWDNEF KTIASQHPNT RIGVFLCGPE ALAETLSKQS 550
ISNSESGPRG VHFIFNKENF 570
Length:570
Mass (Da):65,336
Last modified:January 23, 2007 - v2
Checksum:i7E84051BD4000CE3
GO

Sequence cautioni

The sequence CAA27635.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAA29327.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181W → C in CGD.
VAR_047264
Natural varianti20 – 201G → R in CGD. 1 Publication
Corresponds to variant rs151344455 [ dbSNP | Ensembl ].
VAR_007873
Natural varianti41 – 411Y → D in CGD. 1 Publication
Corresponds to variant rs151344453 [ dbSNP | Ensembl ].
VAR_025613
Natural varianti54 – 552Missing in CGD.
VAR_047265
Natural varianti54 – 541R → M in CGD. 2 Publications
Corresponds to variant rs151344479 [ dbSNP | Ensembl ].
VAR_025614
Natural varianti54 – 541R → S in CGD. 1 Publication
Corresponds to variant rs151344456 [ dbSNP | Ensembl ].
VAR_007874
Natural varianti55 – 551A → D in CGD. 2 Publications
Corresponds to variant rs151344480 [ dbSNP | Ensembl ].
VAR_025615
Natural varianti57 – 571A → E in CGD. 3 Publications
Corresponds to variant rs151344481 [ dbSNP | Ensembl ].
VAR_008845
Natural varianti59 – 591C → R in CGD. 1 Publication
Corresponds to variant rs151344457 [ dbSNP | Ensembl ].
VAR_007875
Natural varianti59 – 591C → W in CGD. 1 Publication
Corresponds to variant rs151344488 [ dbSNP | Ensembl ].
VAR_047266
Natural varianti101 – 1011H → R in CGD. 1 Publication
Corresponds to variant rs137854591 [ dbSNP | Ensembl ].
VAR_002432
Natural varianti101 – 1011H → Y in CGD. 2 Publications
Corresponds to variant rs137854594 [ dbSNP | Ensembl ].
VAR_007876
Natural varianti119 – 1191H → R in CGD. 1 Publication
Corresponds to variant rs151344458 [ dbSNP | Ensembl ].
VAR_007877
Natural varianti156 – 1561A → T in CGD. 2 Publications
Corresponds to variant rs137854590 [ dbSNP | Ensembl ].
VAR_002433
Natural varianti178 – 1781T → P in AMCBX2. 1 Publication
Corresponds to variant rs151344497 [ dbSNP | Ensembl ].
VAR_065365
Natural varianti179 – 1791G → R in CGD. 1 Publication
Corresponds to variant rs151344491 [ dbSNP | Ensembl ].
VAR_047267
Natural varianti193 – 1931S → F in CGD. 1 Publication
Corresponds to variant rs151344493 [ dbSNP | Ensembl ].
VAR_047268
Natural varianti205 – 2051F → I in CGD. 1 Publication
Corresponds to variant rs151344496 [ dbSNP | Ensembl ].
VAR_047269
Natural varianti209 – 2091H → Q in CGD. 1 Publication
Corresponds to variant rs151344459 [ dbSNP | Ensembl ].
VAR_007878
Natural varianti209 – 2091H → R in CGD. 1 Publication
Corresponds to variant rs151344482 [ dbSNP | Ensembl ].
VAR_025616
Natural varianti209 – 2091H → Y in CGD. 1 Publication
Corresponds to variant rs137854587 [ dbSNP | Ensembl ].
VAR_002434
Natural varianti215 – 2151Missing in CGD. 2 Publications
VAR_007879
Natural varianti222 – 2221H → N in CGD. 1 Publication
Corresponds to variant rs151344460 [ dbSNP | Ensembl ].
VAR_007880
Natural varianti222 – 2221H → R in CGD. 2 Publications
Corresponds to variant rs151344462 [ dbSNP | Ensembl ].
VAR_007881
Natural varianti222 – 2221H → Y in CGD. 1 Publication
Corresponds to variant rs151344460 [ dbSNP | Ensembl ].
VAR_007882
Natural varianti223 – 2231G → L in CGD; requires 2 nucleotide substitutions. 1 Publication
Corresponds to variants rs151344463 [ dbSNP | Ensembl ] and rs151344464 [ dbSNP | Ensembl ].
VAR_007883
Natural varianti224 – 2241A → G in CGD. 1 Publication
Corresponds to variant rs151344483 [ dbSNP | Ensembl ].
VAR_025617
Natural varianti225 – 2251E → V in CGD. 1 Publication
Corresponds to variant rs151344494 [ dbSNP | Ensembl ].
VAR_002435
Natural varianti231 – 2311Q → P in AMCBX2. 1 Publication
Corresponds to variant rs151344498 [ dbSNP | Ensembl ].
VAR_065366
Natural varianti244 – 2441C → R in CGD. 1 Publication
Corresponds to variant rs151344465 [ dbSNP | Ensembl ].
VAR_007884
Natural varianti244 – 2441C → S in CGD. 1 Publication
Corresponds to variant rs137854589 [ dbSNP | Ensembl ].
VAR_002436
Natural varianti244 – 2441C → Y in CGD. 1 Publication
Corresponds to variant rs137854589 [ dbSNP | Ensembl ].
VAR_002437
Natural varianti298 – 3025Missing in CGD.
VAR_047270
Natural varianti303 – 3031H → N in CGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished. 2 Publications
Corresponds to variant rs137854595 [ dbSNP | Ensembl ].
VAR_016880
Natural varianti304 – 3041P → R in CGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated. 2 Publications
Corresponds to variant rs137854596 [ dbSNP | Ensembl ].
VAR_016881
Natural varianti307 – 3071T → P in CGD. 1 Publication
Corresponds to variant rs151344489 [ dbSNP | Ensembl ].
VAR_047271
Natural varianti309 – 3091E → K in CGD. 2 Publications
Corresponds to variant rs151344466 [ dbSNP | Ensembl ].
VAR_007885
Natural varianti315 – 3151Missing in CGD. 1 Publication
VAR_047272
Natural varianti322 – 3221G → E in CGD. 1 Publication
Corresponds to variant rs151344467 [ dbSNP | Ensembl ].
VAR_007886
Natural varianti325 – 3251I → F in CGD. 1 Publication
Corresponds to variant rs151344468 [ dbSNP | Ensembl ].
VAR_007887
Natural varianti333 – 3331S → P in CGD. 1 Publication
Corresponds to variant rs151344469 [ dbSNP | Ensembl ].
VAR_007888
Natural varianti338 – 3381H → Y in CGD. 2 Publications
Corresponds to variant rs151344484 [ dbSNP | Ensembl ].
VAR_025618
Natural varianti339 – 3391P → H in CGD. 5 Publications
Corresponds to variant rs151344470 [ dbSNP | Ensembl ].
VAR_002438
Natural varianti342 – 3421L → Q in CGD. 1 Publication
Corresponds to variant rs151344495 [ dbSNP | Ensembl ].
VAR_047273
Natural varianti344 – 3441S → F in CGD. 2 Publications
Corresponds to variant rs151344485 [ dbSNP | Ensembl ].
VAR_025619
Natural varianti356 – 3561R → P in CGD. 1 Publication
Corresponds to variant rs151344471 [ dbSNP | Ensembl ].
VAR_007889
Natural varianti364 – 3641G → R.2 Publications
Corresponds to variant rs141756032 [ dbSNP | Ensembl ].
VAR_025620
Natural varianti389 – 3891G → A in CGD. 1 Publication
Corresponds to variant rs137854586 [ dbSNP | Ensembl ].
VAR_002439
Natural varianti389 – 3891G → E in CGD. 1 Publication
Corresponds to variant rs137854586 [ dbSNP | Ensembl ].
VAR_025621
Natural varianti405 – 4051M → R in CGD. 1 Publication
Corresponds to variant rs151344472 [ dbSNP | Ensembl ].
VAR_007890
Natural varianti408 – 4081G → E in CGD. 1 Publication
Corresponds to variant rs151344474 [ dbSNP | Ensembl ].
VAR_007891
Natural varianti408 – 4081G → R in CGD. 2 Publications
Corresponds to variant rs151344473 [ dbSNP | Ensembl ].
VAR_007892
Natural varianti415 – 4151P → H in CGD. 2 Publications
Corresponds to variant rs137854585 [ dbSNP | Ensembl ].
VAR_002440
Natural varianti415 – 4151P → L in CGD. 1 Publication
Corresponds to variant rs137854585 [ dbSNP | Ensembl ].
VAR_007893
Natural varianti420 – 4201L → P in CGD. 1 Publication
Corresponds to variant rs151344486 [ dbSNP | Ensembl ].
VAR_025622
Natural varianti422 – 4221S → P in CGD. 1 Publication
Corresponds to variant rs151344475 [ dbSNP | Ensembl ].
VAR_007894
Natural varianti453 – 4531W → R in CGD. 1 Publication
Corresponds to variant rs151344476 [ dbSNP | Ensembl ].
VAR_007895
Natural varianti472 – 4721G → S.
Corresponds to variant rs13306300 [ dbSNP | Ensembl ].
VAR_047274
Natural varianti488 – 4881A → D in CGD. 1 Publication
VAR_068012
Natural varianti500 – 5001D → E in CGD. 1 Publication
VAR_068013
Natural varianti500 – 5001D → G in CGD. 1 Publication
Corresponds to variant rs137854593 [ dbSNP | Ensembl ].
VAR_002441
Natural varianti505 – 5051L → R in CGD. 1 Publication
Corresponds to variant rs151344490 [ dbSNP | Ensembl ].
VAR_047275
Natural varianti516 – 5161W → C in CGD. 1 Publication
Corresponds to variant rs151344477 [ dbSNP | Ensembl ].
VAR_007896
Natural varianti516 – 5161W → R in CGD. 1 Publication
Corresponds to variant rs151344487 [ dbSNP | Ensembl ].
VAR_025623
Natural varianti517 – 5171D → E.1 Publication
Corresponds to variant rs151344452 [ dbSNP | Ensembl ].
VAR_025624
Natural varianti534 – 5341V → D in CGD. 1 Publication
Corresponds to variant rs151344478 [ dbSNP | Ensembl ].
VAR_007897
Natural varianti537 – 5371C → R in CGD. 2 Publications
Corresponds to variant rs151344454 [ dbSNP | Ensembl ].
VAR_007898
Natural varianti546 – 5461L → P in CGD. 1 Publication
Corresponds to variant rs151344492 [ dbSNP | Ensembl ].
VAR_047276

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141V → A1 Publication
Sequence conflicti14 – 141V → A1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X04011 mRNA. Translation: CAA27635.1. Different initiation.
AF469769
, AF469757, AF469758, AF469759, AF469760, AF469761, AF469762, AF469763, AF469764, AF469765, AF469766, AF469767, AF469768 Genomic DNA. Translation: AAL76082.1.
DQ314869 Genomic DNA. Translation: ABC40728.1.
AK289753 mRNA. Translation: BAF82442.1.
CH471141 Genomic DNA. Translation: EAW59453.1.
BC032720 mRNA. Translation: AAH32720.1.
X05895 Genomic DNA. Translation: CAA29327.1. Sequence problems.
AB013904 Genomic DNA. Translation: BAA34183.1.
CCDSiCCDS14242.1.
PIRiS70773.
RefSeqiNP_000388.2. NM_000397.3.
UniGeneiHs.292356.

Genome annotation databases

EnsembliENST00000378588; ENSP00000367851; ENSG00000165168.
ENST00000596392; ENSP00000468868; ENSG00000268765.
GeneIDi1536.
KEGGihsa:1536.
UCSCiuc004ddr.2. human.

Polymorphism databases

DMDMi115211.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

CYBBbase

CYBB deficiency database

Mendelian genes cytochrome b-245, beta polypeptide (CYBB)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X04011 mRNA. Translation: CAA27635.1 . Different initiation.
AF469769
, AF469757 , AF469758 , AF469759 , AF469760 , AF469761 , AF469762 , AF469763 , AF469764 , AF469765 , AF469766 , AF469767 , AF469768 Genomic DNA. Translation: AAL76082.1 .
DQ314869 Genomic DNA. Translation: ABC40728.1 .
AK289753 mRNA. Translation: BAF82442.1 .
CH471141 Genomic DNA. Translation: EAW59453.1 .
BC032720 mRNA. Translation: AAH32720.1 .
X05895 Genomic DNA. Translation: CAA29327.1 . Sequence problems.
AB013904 Genomic DNA. Translation: BAA34183.1 .
CCDSi CCDS14242.1.
PIRi S70773.
RefSeqi NP_000388.2. NM_000397.3.
UniGenei Hs.292356.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3A1F X-ray 2.00 A 385-570 [» ]
ProteinModelPortali P04839.
SMRi P04839. Positions 385-570.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107916. 4 interactions.
DIPi DIP-42005N.
IntActi P04839. 1 interaction.
MINTi MINT-191276.
STRINGi 9606.ENSP00000367851.

Chemistry

BindingDBi P04839.
ChEMBLi CHEMBL1287627.

Protein family/group databases

PeroxiBasei 5962. HsNOx02.
TCDBi 5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

PTM databases

PhosphoSitei P04839.

Polymorphism databases

DMDMi 115211.

Proteomic databases

MaxQBi P04839.
PaxDbi P04839.
PeptideAtlasi P04839.
PRIDEi P04839.

Protocols and materials databases

DNASUi 1536.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378588 ; ENSP00000367851 ; ENSG00000165168 .
ENST00000596392 ; ENSP00000468868 ; ENSG00000268765 .
GeneIDi 1536.
KEGGi hsa:1536.
UCSCi uc004ddr.2. human.

Organism-specific databases

CTDi 1536.
GeneCardsi GC0XP037639.
GeneReviewsi CYBB.
HGNCi HGNC:2578. CYBB.
HPAi CAB032510.
MIMi 300481. gene.
300645. phenotype.
306400. phenotype.
neXtProti NX_P04839.
Orphaneti 379. Chronic granulomatous disease.
319623. X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency.
PharmGKBi PA27076.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287712.
HOGENOMi HOG000216669.
HOVERGENi HBG003760.
InParanoidi P04839.
KOi K08008.
OMAi ACPIPQF.
PhylomeDBi P04839.
TreeFami TF105354.

Enzyme and pathway databases

Reactomei REACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
REACT_121256. Phagosomal maturation (early endosomal stage).

Miscellaneous databases

GeneWikii CYBB.
GenomeRNAii 1536.
NextBioi 6353.
PROi P04839.
SOURCEi Search...

Gene expression databases

ArrayExpressi P04839.
Bgeei P04839.
CleanExi HS_CYBB.
Genevestigatori P04839.

Family and domain databases

InterProi IPR000778. Cyt_b245_heavy_chain.
IPR013112. FAD-bd_8.
IPR017927. Fd_Rdtase_FAD-bd.
IPR013130. Fe3_Rdtase_TM_dom.
IPR013121. Fe_red_NAD-bd_6.
IPR017938. Riboflavin_synthase-like_b-brl.
[Graphical view ]
Pfami PF08022. FAD_binding_8. 1 hit.
PF01794. Ferric_reduct. 1 hit.
PF08030. NAD_binding_6. 1 hit.
[Graphical view ]
PRINTSi PR00466. GP91PHOX.
SUPFAMi SSF63380. SSF63380. 1 hit.
PROSITEi PS51384. FAD_FR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning the gene for an inherited human disorder -- chronic granulomatous disease -- on the basis of its chromosomal location."
    Royer-Pokora B., Kunkel L.M., Monaco A.P., Goff S.C., Newburger P.E., Baehner R.L., Cole F.S., Curnutte J.T., Orkin S.H.
    Nature 322:32-38(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "CYBB mutation analysis in X-linked chronic granulomatous disease."
    Jirapongsananuruk O., Niemela J.E., Malech H.L., Fleisher T.A.
    Clin. Immunol. 104:73-76(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CGD ASP-41 AND ARG-537, VARIANTS ARG-364 AND GLU-517.
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lymph.
  7. "The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex."
    Dinauer M.C., Orkin S.H., Brown R., Jesaitis A.J., Parkos C.A.
    Nature 327:717-720(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-135.
  8. "Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease."
    Kumatori A., Faizunnessa N.N., Suzuki S., Moriuchi T., Kurozumi H., Nakamura M.
    Genomics 53:123-128(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 233-267.
    Tissue: Peripheral blood.
  9. "The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245."
    Teahan C., Rowe P., Parker P., Totty N., Segal A.W.
    Nature 327:720-721(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-44, SUBUNIT.
  10. "Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway."
    Henderson L.M., Meech R.W.
    J. Gen. Physiol. 114:771-786(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION AS A PROTON CHANNEL.
  11. "Regulation of the phagocyte NADPH oxidase activity: phosphorylation of gp91phox/NOX2 by protein kinase C enhances its diaphorase activity and binding to Rac2, p67phox, and p47phox."
    Raad H., Paclet M.H., Boussetta T., Kroviarski Y., Morel F., Quinn M.T., Gougerot-Pocidalo M.A., Dang P.M., El-Benna J.
    FASEB J. 23:1011-1022(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, PHOSPHORYLATION, TISSUE SPECIFICITY.
  12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-132; ASN-149 AND ASN-240.
    Tissue: Liver.
  13. "Interaction of human neutrophil flavocytochrome b with cytosolic proteins: transferred-NOESY NMR studies of a gp91phox C-terminal peptide bound to p47phox."
    Adams E.R., Dratz E.A., Gizachew D., Deleo F.R., Yu L., Volpp B.D., Vlases M., Jesaitis A.J., Quinn M.T.
    Biochem. J. 325:249-257(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 556-570 IN COMPLEX WITH NCF1, INTERACTION WITH NCF1.
  14. "A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease."
    Dinauer M.C., Curnutte J.T., Rosen H.R., Orkin S.H.
    J. Clin. Invest. 84:2012-2016(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD HIS-415.
  15. "Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease."
    Bolscher B.G.J.M., de Boer M., de Klein A., Weening R.S., Roos D.
    Blood 77:2482-2487(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD ARG-101; THR-156; TYR-209; SER-244 AND ALA-389.
  16. "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."
    Ariga T., Sakiyama Y., Tomizawa K., Imajoh-Ohmi S., Kanegasaki S., Matsumoto S.
    Eur. J. Pediatr. 152:469-472(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD GLU-57.
  17. "Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease."
    Ariga T., Sakiyama Y., Matsumoto S.
    Hum. Genet. 94:441-441(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD HIS-339.
  18. "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."
    Leusen J.H.W., de Boer M., Bolscher B.G.J.M., Hilarius P.M., Weening R.S., Ochs H.D., Roos D., Verhoeven A.J.
    J. Clin. Invest. 93:2120-2126(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD GLY-500.
  19. "Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease."
    Hui Y.F., Chan S.Y., Lau Y.L.
    Blood 88:4021-4028(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD ILE-205; PHE-215 DEL AND GLN-342.
  20. Erratum
    Hui Y.F., Chan S.Y., Lau Y.L.
    Blood 89:1843-1843(1996)
  21. "An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity."
    Jendrossek V., Ritzel A., Neubauer B., Heyden S., Gahr M.
    Eur. J. Haematol. 58:78-85(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD PHE-215 DEL.
  22. "X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase."
    Rae J., Newburger P.E., Dinauer M.C., Noack D., Hopkins P.J., Kuruto R., Curnutte J.T.
    Am. J. Hum. Genet. 62:1320-1331(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD ARG-20; SER-54; ARG-59; ARG-119; THR-156; GLN-209; ASN-222; ARG-222; TYR-222; LEU-223; ARG-244; LYS-309; LYS-315 DEL; GLU-322; PHE-325; PRO-333; HIS-339; PRO-356; ARG-405; GLU-408; ARG-408; HIS-415; LEU-415; PRO-422; ARG-453; CYS-516; ASP-534 AND ARG-537.
  23. "A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease."
    Tsuda M., Kaneda M., Sakiyama T., Inana I., Owada M., Kiryu C., Shiraishi T., Kakinuma K.
    Hum. Genet. 103:377-381(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD TYR-101.
  24. "Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients."
    Dusi S., Nadalini K.A., Donini M., Zentilin L., Wientjes F.B., Roos D., Giacca M., Rossi F.
    J. Immunol. 161:4968-4974(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD ARG-179 AND 298-THR--THR-302 DEL.
  25. "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."
    Ariga T., Furuta H., Cho K., Sakiyama Y.
    Pediatr. Res. 44:85-92(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD MET-54; ASP-55; GLU-57; HIS-339 AND PHE-344.
  26. "Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease."
    Roesler J., Heyden S., Burdelski M., Schaefer H., Kreth H.-W., Lehmann R., Paul D., Marzahn J., Gahr M., Roesen-Wolff A.
    Exp. Hematol. 27:505-511(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD PHE-193; ARG-222; TYR-338; HIS-339 AND PRO-546, VARIANT ARG-364.
  27. "Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox."
    Patino P.J., Perez J.E., Lopez J.A., Condino-Neto A., Grumach A.S., Botero J.H., Curnutte J.T., Garcia de Olarte D.
    Hum. Mutat. 13:29-37(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD VAL-225 AND TYR-244.
  28. "Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency."
    Ishibashi F., Nunoi H., Endo F., Matsuda I., Kanegasaki S.
    Hum. Genet. 106:473-481(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD MET-54; ASP-55; GLU-57; TYR-101; ARG-209; GLY-224; LYS-309; TYR-338; HIS-339; PHE-344; GLU-389; PRO-420 AND ARG-516.
  29. "Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)."
    Gerard B., El Benna J., Alcain F., Gougerot-Pocidalo M.-A., Grandchamp B., Chollet-Martin S.
    Hum. Mutat. 18:163-163(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD 54-ARG-ALA-55 DEL; TRP-59; PRO-307 AND ARG-505.
  30. "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."
    Stasia M.J., Lardy B., Maturana A., Rousseau P., Martel C., Bordigoni P., Demaurex N., Morel F.
    Biochim. Biophys. Acta 1586:316-330(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD ASN-303 AND ARG-304.
  31. "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."
    Bionda C., Li X.J., van Bruggen R., Eppink M., Roos D., Morel F., Stasia M.-J.
    Hum. Genet. 115:418-427(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS CGD ASN-303 AND ARG-304.
  32. "First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families."
    Bakri F.G., Martel C., Khuri-Bulos N., Mahafzah A., El-Khateeb M.S., Al-Wahadneh A.M., Hayajneh W.A., Hamamy H.A., Maquet E., Molin M., Stasia M.J.
    J. Clin. Immunol. 29:215-230(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CGD ARG-408.
  33. Cited for: VARIANTS AMCBX2 PRO-178 AND PRO-231.
  34. "Identification and functional characterization of two novel mutations in the alpha-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease."
    Boog B., Quach A., Costabile M., Smart J., Quinn P., Singh H., Gold M., Booker G., Choo S., Hii C.S., Ferrante A.
    Hum. Mutat. 33:471-475(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD ASP-488 AND GLU-500.

Entry informationi

Entry nameiCY24B_HUMAN
AccessioniPrimary (citable) accession number: P04839
Secondary accession number(s): A8K138, Q2PP16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 164 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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