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Protein

Cytochrome b-245 heavy chain

Gene

CYBB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

FADCurated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi101Iron (heme axial ligand)Curated1
Metal bindingi115Iron (heme axial ligand)Curated1
Metal bindingi209Iron (heme axial ligand)Curated1
Metal bindingi222Iron (heme axial ligand)Curated1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi338 – 344FADSequence analysis7

GO - Molecular functioni

  • flavin adenine dinucleotide binding Source: BHF-UCL
  • heme binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: BHF-UCL
  • superoxide-generating NADPH oxidase activity Source: BHF-UCL
  • voltage-gated ion channel activity Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionIon channel, Oxidoreductase, Voltage-gated channel
Biological processElectron transport, Ion transport, Transport
LigandFAD, Flavoprotein, Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

BioCyciZFISH:HS09192-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-1236973. Cross-presentation of particulate exogenous antigens (phagosomes).
R-HSA-3299685. Detoxification of Reactive Oxygen Species.
R-HSA-4420097. VEGFA-VEGFR2 Pathway.
R-HSA-5668599. RHO GTPases Activate NADPH Oxidases.
R-HSA-6798695. Neutrophil degranulation.
SIGNORiP04839.

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2578. CYBB.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 8CytoplasmicSequence analysis7
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Topological domaini30 – 48ExtracellularSequence analysisAdd BLAST19
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21
Topological domaini70 – 102CytoplasmicSequence analysisAdd BLAST33
Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
Topological domaini124 – 169ExtracellularSequence analysisAdd BLAST46
Transmembranei170 – 190HelicalSequence analysisAdd BLAST21
Topological domaini191 – 200CytoplasmicSequence analysis10
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 261ExtracellularSequence analysisAdd BLAST40
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21
Topological domaini283 – 570CytoplasmicSequence analysisAdd BLAST288

GO - Cellular componenti

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, X-linked (CGD)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
See also OMIM:306400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04726418W → C in CGD. 1
Natural variantiVAR_00787320G → R in CGD. Corresponds to variant dbSNP:rs1513444551 PublicationEnsembl.1
Natural variantiVAR_02561341Y → D in CGD. Corresponds to variant dbSNP:rs1513444531 PublicationEnsembl.1
Natural variantiVAR_04726554 – 55Missing in CGD. 1 Publication2
Natural variantiVAR_02561454R → M in CGD. Corresponds to variant dbSNP:rs1513444793 PublicationsEnsembl.1
Natural variantiVAR_00787454R → S in CGD. Corresponds to variant dbSNP:rs1513444561 PublicationEnsembl.1
Natural variantiVAR_02561555A → D in CGD. Corresponds to variant dbSNP:rs1513444802 PublicationsEnsembl.1
Natural variantiVAR_00884557A → E in CGD. Corresponds to variant dbSNP:rs1513444813 PublicationsEnsembl.1
Natural variantiVAR_00787559C → R in CGD. Corresponds to variant dbSNP:rs1513444571 PublicationEnsembl.1
Natural variantiVAR_04726659C → W in CGD. Corresponds to variant dbSNP:rs1513444881 PublicationEnsembl.1
Natural variantiVAR_002432101H → R in CGD. Corresponds to variant dbSNP:rs1378545911 PublicationEnsembl.1
Natural variantiVAR_007876101H → Y in CGD. Corresponds to variant dbSNP:rs1378545942 PublicationsEnsembl.1
Natural variantiVAR_007877119H → R in CGD. Corresponds to variant dbSNP:rs1513444581 PublicationEnsembl.1
Natural variantiVAR_002433156A → T in CGD. Corresponds to variant dbSNP:rs1378545902 PublicationsEnsembl.1
Natural variantiVAR_047267179G → R in CGD. Corresponds to variant dbSNP:rs1513444911 PublicationEnsembl.1
Natural variantiVAR_047268193S → F in CGD. Corresponds to variant dbSNP:rs1513444931 PublicationEnsembl.1
Natural variantiVAR_047269205F → I in CGD. Corresponds to variant dbSNP:rs1513444961 PublicationEnsembl.1
Natural variantiVAR_007878209H → Q in CGD. Corresponds to variant dbSNP:rs1513444591 PublicationEnsembl.1
Natural variantiVAR_025616209H → R in CGD. Corresponds to variant dbSNP:rs1513444821 PublicationEnsembl.1
Natural variantiVAR_002434209H → Y in CGD. Corresponds to variant dbSNP:rs1378545871 PublicationEnsembl.1
Natural variantiVAR_007879215Missing in CGD. 2 Publications1
Natural variantiVAR_007880222H → N in CGD. Corresponds to variant dbSNP:rs1513444601 PublicationEnsembl.1
Natural variantiVAR_007881222H → R in CGD. Corresponds to variant dbSNP:rs1513444622 PublicationsEnsembl.1
Natural variantiVAR_007882222H → Y in CGD. Corresponds to variant dbSNP:rs1513444601 PublicationEnsembl.1
Natural variantiVAR_007883223G → L in CGD; requires 2 nucleotide substitutions. Corresponds to variants dbSNP:rs151344463 and dbSNP:rs1513444641 PublicationEnsemblEnsembl.1
Natural variantiVAR_025617224A → G in CGD. Corresponds to variant dbSNP:rs1513444831 PublicationEnsembl.1
Natural variantiVAR_002435225E → V in CGD. Corresponds to variant dbSNP:rs1513444941 PublicationEnsembl.1
Natural variantiVAR_007884244C → R in CGD. Corresponds to variant dbSNP:rs1513444651 PublicationEnsembl.1
Natural variantiVAR_002436244C → S in CGD. Corresponds to variant dbSNP:rs1378545891 PublicationEnsembl.1
Natural variantiVAR_002437244C → Y in CGD. Corresponds to variant dbSNP:rs1378545891 PublicationEnsembl.1
Natural variantiVAR_047270298 – 302Missing in CGD. 1 Publication5
Natural variantiVAR_071861299K → N in CGD. 1 Publication1
Natural variantiVAR_016880303H → N in CGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished. Corresponds to variant dbSNP:rs1378545952 PublicationsEnsembl.1
Natural variantiVAR_016881304P → R in CGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated. Corresponds to variant dbSNP:rs1378545962 PublicationsEnsembl.1
Natural variantiVAR_047271307T → P in CGD. Corresponds to variant dbSNP:rs1513444891 PublicationEnsembl.1
Natural variantiVAR_007885309E → K in CGD. Corresponds to variant dbSNP:rs1513444662 PublicationsEnsembl.1
Natural variantiVAR_047272315Missing in CGD. 1 Publication1
Natural variantiVAR_007886322G → E in CGD. Corresponds to variant dbSNP:rs1513444671 PublicationEnsembl.1
Natural variantiVAR_007887325I → F in CGD. Corresponds to variant dbSNP:rs1513444681 PublicationEnsembl.1
Natural variantiVAR_007888333S → P in CGD. Corresponds to variant dbSNP:rs1513444691 PublicationEnsembl.1
Natural variantiVAR_071862338H → D in CGD. 1 Publication1
Natural variantiVAR_025618338H → Y in CGD. Corresponds to variant dbSNP:rs1513444842 PublicationsEnsembl.1
Natural variantiVAR_002438339P → H in CGD. Corresponds to variant dbSNP:rs1513444706 PublicationsEnsembl.1
Natural variantiVAR_047273342L → Q in CGD. Corresponds to variant dbSNP:rs1513444951 PublicationEnsembl.1
Natural variantiVAR_025619344S → F in CGD. Corresponds to variant dbSNP:rs1513444853 PublicationsEnsembl.1
Natural variantiVAR_007889356R → P in CGD. Corresponds to variant dbSNP:rs1513444711 PublicationEnsembl.1
Natural variantiVAR_002439389G → A in CGD. Corresponds to variant dbSNP:rs1378545861 PublicationEnsembl.1
Natural variantiVAR_025621389G → E in CGD. Corresponds to variant dbSNP:rs1378545861 PublicationEnsembl.1
Natural variantiVAR_007890405M → R in CGD. Corresponds to variant dbSNP:rs1513444721 PublicationEnsembl.1
Natural variantiVAR_007891408G → E in CGD. Corresponds to variant dbSNP:rs1513444741 PublicationEnsembl.1
Natural variantiVAR_007892408G → R in CGD. Corresponds to variant dbSNP:rs1513444732 PublicationsEnsembl.1
Natural variantiVAR_071863412G → E in CGD. 1 Publication1
Natural variantiVAR_002440415P → H in CGD. Corresponds to variant dbSNP:rs1378545852 PublicationsEnsembl.1
Natural variantiVAR_007893415P → L in CGD. Corresponds to variant dbSNP:rs1378545851 PublicationEnsembl.1
Natural variantiVAR_025622420L → P in CGD. Corresponds to variant dbSNP:rs1513444861 PublicationEnsembl.1
Natural variantiVAR_007894422S → P in CGD. Corresponds to variant dbSNP:rs1513444751 PublicationEnsembl.1
Natural variantiVAR_007895453W → R in CGD. Corresponds to variant dbSNP:rs1513444761 PublicationEnsembl.1
Natural variantiVAR_068012488A → D in CGD. 1 Publication1
Natural variantiVAR_068013500D → E in CGD. 1 Publication1
Natural variantiVAR_002441500D → G in CGD. Corresponds to variant dbSNP:rs1378545931 PublicationEnsembl.1
Natural variantiVAR_047275505L → R in CGD. Corresponds to variant dbSNP:rs1513444901 PublicationEnsembl.1
Natural variantiVAR_007896516W → C in CGD. Corresponds to variant dbSNP:rs1513444771 PublicationEnsembl.1
Natural variantiVAR_025623516W → R in CGD. Corresponds to variant dbSNP:rs1513444871 PublicationEnsembl.1
Natural variantiVAR_007897534V → D in CGD. Corresponds to variant dbSNP:rs1513444781 PublicationEnsembl.1
Natural variantiVAR_007898537C → R in CGD. Corresponds to variant dbSNP:rs1513444542 PublicationsEnsembl.1
Natural variantiVAR_047276546L → P in CGD. Corresponds to variant dbSNP:rs1513444921 PublicationEnsembl.1
Immunodeficiency 34 (IMD34)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, 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, with the exception of Salmonella which infects less than 50% of these individuals.
See also OMIM:300645
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065365178T → P in IMD34. Corresponds to variant dbSNP:rs1513444971 PublicationEnsembl.1
Natural variantiVAR_065366231Q → P in IMD34. Corresponds to variant dbSNP:rs1513444981 PublicationEnsembl.1

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

DisGeNETi1536.
MalaCardsiCYBB.
MIMi300645. phenotype.
306400. phenotype.
OpenTargetsiENSG00000165168.
Orphaneti379. Chronic granulomatous disease.
319623. X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency.
PharmGKBiPA27076.

Chemistry databases

ChEMBLiCHEMBL1287627.
DrugBankiDB00514. Dextromethorphan.

Polymorphism and mutation databases

BioMutaiCYBB.
DMDMi115211.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002101452 – 570Cytochrome b-245 heavy chainAdd BLAST569

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi132N-linked (GlcNAc...)1 Publication1
Glycosylationi149N-linked (GlcNAc...)1 Publication1
Glycosylationi240N-linked (GlcNAc...)1 Publication1

Post-translational modificationi

Glycosylated.1 Publication
Phosphorylated on Ser and Thr residues.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP04839.
MaxQBiP04839.
PaxDbiP04839.
PeptideAtlasiP04839.
PRIDEiP04839.

PTM databases

iPTMnetiP04839.
PhosphoSitePlusiP04839.
SwissPalmiP04839.

Expressioni

Tissue specificityi

Detected in neutrophils (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000165168.
CleanExiHS_CYBB.
ExpressionAtlasiP04839. baseline and differential.
GenevisibleiP04839. HS.

Organism-specific databases

HPAiHPA051227.

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

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL

Protein-protein interaction databases

BioGridi107916. 3 interactors.
DIPiDIP-42005N.
IntActiP04839. 1 interactor.
MINTiMINT-191276.
STRINGi9606.ENSP00000367851.

Chemistry databases

BindingDBiP04839.

Structurei

Secondary structure

1570
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi393 – 398Combined sources6
Beta strandi401 – 409Combined sources9
Helixi410 – 412Combined sources3
Helixi413 – 429Combined sources17
Beta strandi438 – 446Combined sources9
Turni448 – 451Combined sources4
Helixi452 – 467Combined sources16
Beta strandi473 – 480Combined sources8
Beta strandi509 – 512Combined sources4
Helixi516 – 526Combined sources11
Beta strandi531 – 538Combined sources8
Helixi540 – 552Combined sources13
Beta strandi562 – 566Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3A1FX-ray2.00A385-570[»]
ProteinModelPortaliP04839.
SMRiP04839.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini54 – 286Ferric oxidoreductaseAdd BLAST233
Domaini287 – 397FAD-binding FR-typePROSITE-ProRule annotationAdd BLAST111

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

eggNOGiKOG0039. Eukaryota.
ENOG410XNZY. LUCA.
GeneTreeiENSGT00550000074350.
HOGENOMiHOG000216669.
HOVERGENiHBG003760.
InParanoidiP04839.
KOiK08008.
OMAiVKFFYTR.
OrthoDBiEOG091G09RV.
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

        10         20         30         40         50
MGNWAVNEGL SIFVILVWLG LNVFLFVWYY RVYDIPPKFF YTRKLLGSAL
60 70 80 90 100
ALARAPAACL NFNCMLILLP VCRNLLSFLR GSSACCSTRV RRQLDRNLTF
110 120 130 140 150
HKMVAWMIAL HSAIHTIAHL FNVEWCVNAR VNNSDPYSVA LSELGDRQNE
160 170 180 190 200
SYLNFARKRI KNPEGGLYLA VTLLAGITGV VITLCLILII TSSTKTIRRS
210 220 230 240 250
YFEVFWYTHH LFVIFFIGLA IHGAERIVRG QTAESLAVHN ITVCEQKISE
260 270 280 290 300
WGKIKECPIP QFAGNPPMTW KWIVGPMFLY LCERLVRFWR SQQKVVITKV
310 320 330 340 350
VTHPFKTIEL QMKKKGFKME VGQYIFVKCP KVSKLEWHPF TLTSAPEEDF
360 370 380 390 400
FSIHIRIVGD WTEGLFNACG CDKQEFQDAW KLPKIAVDGP FGTASEDVFS
410 420 430 440 450
YEVVMLVGAG IGVTPFASIL KSVWYKYCNN ATNLKLKKIY FYWLCRDTHA
460 470 480 490 500
FEWFADLLQL LESQMQERNN AGFLSYNIYL TGWDESQANH FAVHHDEEKD
510 520 530 540 550
VITGLKQKTL YGRPNWDNEF KTIASQHPNT RIGVFLCGPE ALAETLSKQS
560 570
ISNSESGPRG VHFIFNKENF
Length:570
Mass (Da):65,336
Last modified:January 23, 2007 - v2
Checksum:i7E84051BD4000CE3
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14V → A (PubMed:2425263).Curated1
Sequence conflicti14V → A (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04726418W → C in CGD. 1
Natural variantiVAR_00787320G → R in CGD. Corresponds to variant dbSNP:rs1513444551 PublicationEnsembl.1
Natural variantiVAR_02561341Y → D in CGD. Corresponds to variant dbSNP:rs1513444531 PublicationEnsembl.1
Natural variantiVAR_04726554 – 55Missing in CGD. 1 Publication2
Natural variantiVAR_02561454R → M in CGD. Corresponds to variant dbSNP:rs1513444793 PublicationsEnsembl.1
Natural variantiVAR_00787454R → S in CGD. Corresponds to variant dbSNP:rs1513444561 PublicationEnsembl.1
Natural variantiVAR_02561555A → D in CGD. Corresponds to variant dbSNP:rs1513444802 PublicationsEnsembl.1
Natural variantiVAR_00884557A → E in CGD. Corresponds to variant dbSNP:rs1513444813 PublicationsEnsembl.1
Natural variantiVAR_00787559C → R in CGD. Corresponds to variant dbSNP:rs1513444571 PublicationEnsembl.1
Natural variantiVAR_04726659C → W in CGD. Corresponds to variant dbSNP:rs1513444881 PublicationEnsembl.1
Natural variantiVAR_002432101H → R in CGD. Corresponds to variant dbSNP:rs1378545911 PublicationEnsembl.1
Natural variantiVAR_007876101H → Y in CGD. Corresponds to variant dbSNP:rs1378545942 PublicationsEnsembl.1
Natural variantiVAR_007877119H → R in CGD. Corresponds to variant dbSNP:rs1513444581 PublicationEnsembl.1
Natural variantiVAR_002433156A → T in CGD. Corresponds to variant dbSNP:rs1378545902 PublicationsEnsembl.1
Natural variantiVAR_065365178T → P in IMD34. Corresponds to variant dbSNP:rs1513444971 PublicationEnsembl.1
Natural variantiVAR_047267179G → R in CGD. Corresponds to variant dbSNP:rs1513444911 PublicationEnsembl.1
Natural variantiVAR_047268193S → F in CGD. Corresponds to variant dbSNP:rs1513444931 PublicationEnsembl.1
Natural variantiVAR_047269205F → I in CGD. Corresponds to variant dbSNP:rs1513444961 PublicationEnsembl.1
Natural variantiVAR_007878209H → Q in CGD. Corresponds to variant dbSNP:rs1513444591 PublicationEnsembl.1
Natural variantiVAR_025616209H → R in CGD. Corresponds to variant dbSNP:rs1513444821 PublicationEnsembl.1
Natural variantiVAR_002434209H → Y in CGD. Corresponds to variant dbSNP:rs1378545871 PublicationEnsembl.1
Natural variantiVAR_007879215Missing in CGD. 2 Publications1
Natural variantiVAR_007880222H → N in CGD. Corresponds to variant dbSNP:rs1513444601 PublicationEnsembl.1
Natural variantiVAR_007881222H → R in CGD. Corresponds to variant dbSNP:rs1513444622 PublicationsEnsembl.1
Natural variantiVAR_007882222H → Y in CGD. Corresponds to variant dbSNP:rs1513444601 PublicationEnsembl.1
Natural variantiVAR_007883223G → L in CGD; requires 2 nucleotide substitutions. Corresponds to variants dbSNP:rs151344463 and dbSNP:rs1513444641 PublicationEnsemblEnsembl.1
Natural variantiVAR_025617224A → G in CGD. Corresponds to variant dbSNP:rs1513444831 PublicationEnsembl.1
Natural variantiVAR_002435225E → V in CGD. Corresponds to variant dbSNP:rs1513444941 PublicationEnsembl.1
Natural variantiVAR_065366231Q → P in IMD34. Corresponds to variant dbSNP:rs1513444981 PublicationEnsembl.1
Natural variantiVAR_007884244C → R in CGD. Corresponds to variant dbSNP:rs1513444651 PublicationEnsembl.1
Natural variantiVAR_002436244C → S in CGD. Corresponds to variant dbSNP:rs1378545891 PublicationEnsembl.1
Natural variantiVAR_002437244C → Y in CGD. Corresponds to variant dbSNP:rs1378545891 PublicationEnsembl.1
Natural variantiVAR_047270298 – 302Missing in CGD. 1 Publication5
Natural variantiVAR_071861299K → N in CGD. 1 Publication1
Natural variantiVAR_016880303H → N in CGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished. Corresponds to variant dbSNP:rs1378545952 PublicationsEnsembl.1
Natural variantiVAR_016881304P → R in CGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated. Corresponds to variant dbSNP:rs1378545962 PublicationsEnsembl.1
Natural variantiVAR_047271307T → P in CGD. Corresponds to variant dbSNP:rs1513444891 PublicationEnsembl.1
Natural variantiVAR_007885309E → K in CGD. Corresponds to variant dbSNP:rs1513444662 PublicationsEnsembl.1
Natural variantiVAR_047272315Missing in CGD. 1 Publication1
Natural variantiVAR_007886322G → E in CGD. Corresponds to variant dbSNP:rs1513444671 PublicationEnsembl.1
Natural variantiVAR_007887325I → F in CGD. Corresponds to variant dbSNP:rs1513444681 PublicationEnsembl.1
Natural variantiVAR_007888333S → P in CGD. Corresponds to variant dbSNP:rs1513444691 PublicationEnsembl.1
Natural variantiVAR_071862338H → D in CGD. 1 Publication1
Natural variantiVAR_025618338H → Y in CGD. Corresponds to variant dbSNP:rs1513444842 PublicationsEnsembl.1
Natural variantiVAR_002438339P → H in CGD. Corresponds to variant dbSNP:rs1513444706 PublicationsEnsembl.1
Natural variantiVAR_047273342L → Q in CGD. Corresponds to variant dbSNP:rs1513444951 PublicationEnsembl.1
Natural variantiVAR_025619344S → F in CGD. Corresponds to variant dbSNP:rs1513444853 PublicationsEnsembl.1
Natural variantiVAR_007889356R → P in CGD. Corresponds to variant dbSNP:rs1513444711 PublicationEnsembl.1
Natural variantiVAR_025620364G → R. Corresponds to variant dbSNP:rs1417560322 PublicationsEnsembl.1
Natural variantiVAR_002439389G → A in CGD. Corresponds to variant dbSNP:rs1378545861 PublicationEnsembl.1
Natural variantiVAR_025621389G → E in CGD. Corresponds to variant dbSNP:rs1378545861 PublicationEnsembl.1
Natural variantiVAR_007890405M → R in CGD. Corresponds to variant dbSNP:rs1513444721 PublicationEnsembl.1
Natural variantiVAR_007891408G → E in CGD. Corresponds to variant dbSNP:rs1513444741 PublicationEnsembl.1
Natural variantiVAR_007892408G → R in CGD. Corresponds to variant dbSNP:rs1513444732 PublicationsEnsembl.1
Natural variantiVAR_071863412G → E in CGD. 1 Publication1
Natural variantiVAR_002440415P → H in CGD. Corresponds to variant dbSNP:rs1378545852 PublicationsEnsembl.1
Natural variantiVAR_007893415P → L in CGD. Corresponds to variant dbSNP:rs1378545851 PublicationEnsembl.1
Natural variantiVAR_025622420L → P in CGD. Corresponds to variant dbSNP:rs1513444861 PublicationEnsembl.1
Natural variantiVAR_007894422S → P in CGD. Corresponds to variant dbSNP:rs1513444751 PublicationEnsembl.1
Natural variantiVAR_007895453W → R in CGD. Corresponds to variant dbSNP:rs1513444761 PublicationEnsembl.1
Natural variantiVAR_047274472G → S. Corresponds to variant dbSNP:rs13306300Ensembl.1
Natural variantiVAR_068012488A → D in CGD. 1 Publication1
Natural variantiVAR_068013500D → E in CGD. 1 Publication1
Natural variantiVAR_002441500D → G in CGD. Corresponds to variant dbSNP:rs1378545931 PublicationEnsembl.1
Natural variantiVAR_047275505L → R in CGD. Corresponds to variant dbSNP:rs1513444901 PublicationEnsembl.1
Natural variantiVAR_007896516W → C in CGD. Corresponds to variant dbSNP:rs1513444771 PublicationEnsembl.1
Natural variantiVAR_025623516W → R in CGD. Corresponds to variant dbSNP:rs1513444871 PublicationEnsembl.1
Natural variantiVAR_025624517D → E. Corresponds to variant dbSNP:rs1513444521 PublicationEnsembl.1
Natural variantiVAR_007897534V → D in CGD. Corresponds to variant dbSNP:rs1513444781 PublicationEnsembl.1
Natural variantiVAR_007898537C → R in CGD. Corresponds to variant dbSNP:rs1513444542 PublicationsEnsembl.1
Natural variantiVAR_047276546L → P in CGD. Corresponds to variant dbSNP:rs1513444921 PublicationEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3A1FX-ray2.00A385-570[»]
ProteinModelPortaliP04839.
SMRiP04839.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107916. 3 interactors.
DIPiDIP-42005N.
IntActiP04839. 1 interactor.
MINTiMINT-191276.
STRINGi9606.ENSP00000367851.

Chemistry databases

BindingDBiP04839.
ChEMBLiCHEMBL1287627.
DrugBankiDB00514. Dextromethorphan.

Protein family/group databases

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

PTM databases

iPTMnetiP04839.
PhosphoSitePlusiP04839.
SwissPalmiP04839.

Polymorphism and mutation databases

BioMutaiCYBB.
DMDMi115211.

Proteomic databases

EPDiP04839.
MaxQBiP04839.
PaxDbiP04839.
PeptideAtlasiP04839.
PRIDEiP04839.

Protocols and materials databases

DNASUi1536.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378588; ENSP00000367851; ENSG00000165168.
GeneIDi1536.
KEGGihsa:1536.
UCSCiuc004ddr.3. human.

Organism-specific databases

CTDi1536.
DisGeNETi1536.
GeneCardsiCYBB.
GeneReviewsiCYBB.
HGNCiHGNC:2578. CYBB.
HPAiHPA051227.
MalaCardsiCYBB.
MIMi300481. gene.
300645. phenotype.
306400. phenotype.
neXtProtiNX_P04839.
OpenTargetsiENSG00000165168.
Orphaneti379. Chronic granulomatous disease.
319623. X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency.
PharmGKBiPA27076.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0039. Eukaryota.
ENOG410XNZY. LUCA.
GeneTreeiENSGT00550000074350.
HOGENOMiHOG000216669.
HOVERGENiHBG003760.
InParanoidiP04839.
KOiK08008.
OMAiVKFFYTR.
OrthoDBiEOG091G09RV.
PhylomeDBiP04839.
TreeFamiTF105354.

Enzyme and pathway databases

BioCyciZFISH:HS09192-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-1236973. Cross-presentation of particulate exogenous antigens (phagosomes).
R-HSA-3299685. Detoxification of Reactive Oxygen Species.
R-HSA-4420097. VEGFA-VEGFR2 Pathway.
R-HSA-5668599. RHO GTPases Activate NADPH Oxidases.
R-HSA-6798695. Neutrophil degranulation.
SIGNORiP04839.

Miscellaneous databases

ChiTaRSiCYBB. human.
GeneWikiiCYBB.
GenomeRNAii1536.
PROiP04839.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165168.
CleanExiHS_CYBB.
ExpressionAtlasiP04839. baseline and differential.
GenevisibleiP04839. HS.

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]
ProtoNetiSearch...

Entry informationi

Entry nameiCY24B_HUMAN
AccessioniPrimary (citable) accession number: P04839
Secondary accession number(s): A8K138, Q2PP16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 188 of the entry and version 2 of the sequence. See 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.