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P04839

- CY24B_HUMAN

UniProt

P04839 - CY24B_HUMAN

Protein

Cytochrome b-245 heavy chain

Gene

CYBB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 165 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    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.Curated

    Sites

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi338 – 3447FADSequence Analysis

    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

    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

    GO - Cellular componenti

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

    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.19 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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. 1 Publication
    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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    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 chainPRO_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.1 Publication
    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

    1
    570
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 87CytoplasmicSequence Analysis
    Topological domaini30 – 4819ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini70 – 10233CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini124 – 16946ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini191 – 20010CytoplasmicSequence Analysis
    Topological domaini222 – 26140ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini283 – 570288CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei49 – 6921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei103 – 12321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei170 – 19021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei201 – 22121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini54 – 286233Ferric oxidoreductaseAdd
    BLAST
    Domaini287 – 397111FAD-binding FR-typePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 FAD-binding FR-type domain.PROSITE-ProRule annotation
    Contains 1 ferric oxidoreductase domain.Curated

    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

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    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti14 – 141V → A(PubMed:2425263)Curated
    Sequence conflicti14 – 141V → A1 PublicationCurated

    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. 1 Publication
    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. 1 Publication
    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 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.
    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 .
    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

    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: October 1, 2014
    This is version 165 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