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Protein

Cytochrome b-245 heavy chain

Gene

CYBB

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

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

ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
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:CYBBImported
Synonyms:NOX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000165168.7
HGNCiHGNC:2578 CYBB
MIMi300481 gene
neXtProtiNX_P04839

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, X-linked (CGD)22 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. 1 PublicationCorresponds to variant dbSNP:rs151344455EnsemblClinVar.1
Natural variantiVAR_02561341Y → D in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344453EnsemblClinVar.1
Natural variantiVAR_04726554 – 55Missing in CGD. 1 Publication2
Natural variantiVAR_02561454R → M in CGD. 3 PublicationsCorresponds to variant dbSNP:rs151344479EnsemblClinVar.1
Natural variantiVAR_00787454R → S in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344456EnsemblClinVar.1
Natural variantiVAR_02561555A → D in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344480EnsemblClinVar.1
Natural variantiVAR_00884557A → E in CGD. 3 PublicationsCorresponds to variant dbSNP:rs151344481EnsemblClinVar.1
Natural variantiVAR_00787559C → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344457EnsemblClinVar.1
Natural variantiVAR_04726659C → W in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344488EnsemblClinVar.1
Natural variantiVAR_002432101H → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854591EnsemblClinVar.1
Natural variantiVAR_007876101H → Y in CGD. 2 PublicationsCorresponds to variant dbSNP:rs137854594EnsemblClinVar.1
Natural variantiVAR_007877119H → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344458EnsemblClinVar.1
Natural variantiVAR_002433156A → T in CGD. 2 PublicationsCorresponds to variant dbSNP:rs137854590EnsemblClinVar.1
Natural variantiVAR_047267179G → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344491EnsemblClinVar.1
Natural variantiVAR_047268193S → F in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344493EnsemblClinVar.1
Natural variantiVAR_047269205F → I in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344496EnsemblClinVar.1
Natural variantiVAR_007878209H → Q in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344459EnsemblClinVar.1
Natural variantiVAR_025616209H → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344482EnsemblClinVar.1
Natural variantiVAR_002434209H → Y in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854587EnsemblClinVar.1
Natural variantiVAR_007879215Missing in CGD. 2 Publications1
Natural variantiVAR_007880222H → N in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344460EnsemblClinVar.1
Natural variantiVAR_007881222H → R in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344462EnsemblClinVar.1
Natural variantiVAR_007882222H → Y in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344460EnsemblClinVar.1
Natural variantiVAR_007883223G → L in CGD; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variants dbSNP:rs151344463 and dbSNP:rs151344464EnsemblEnsembl.1
Natural variantiVAR_025617224A → G in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344483EnsemblClinVar.1
Natural variantiVAR_002435225E → V in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344494EnsemblClinVar.1
Natural variantiVAR_007884244C → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344465EnsemblClinVar.1
Natural variantiVAR_002436244C → S in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854589EnsemblClinVar.1
Natural variantiVAR_002437244C → Y in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854589EnsemblClinVar.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. 2 PublicationsCorresponds to variant dbSNP:rs137854595EnsemblClinVar.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. 2 PublicationsCorresponds to variant dbSNP:rs137854596EnsemblClinVar.1
Natural variantiVAR_047271307T → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344489EnsemblClinVar.1
Natural variantiVAR_007885309E → K in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344466EnsemblClinVar.1
Natural variantiVAR_047272315Missing in CGD. 1 Publication1
Natural variantiVAR_007886322G → E in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344467EnsemblClinVar.1
Natural variantiVAR_007887325I → F in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344468EnsemblClinVar.1
Natural variantiVAR_007888333S → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344469EnsemblClinVar.1
Natural variantiVAR_071862338H → D in CGD. 1 Publication1
Natural variantiVAR_025618338H → Y in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344484EnsemblClinVar.1
Natural variantiVAR_002438339P → H in CGD. 6 PublicationsCorresponds to variant dbSNP:rs151344470EnsemblClinVar.1
Natural variantiVAR_047273342L → Q in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344495EnsemblClinVar.1
Natural variantiVAR_025619344S → F in CGD. 3 PublicationsCorresponds to variant dbSNP:rs151344485EnsemblClinVar.1
Natural variantiVAR_007889356R → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344471EnsemblClinVar.1
Natural variantiVAR_002439389G → A in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854586EnsemblClinVar.1
Natural variantiVAR_025621389G → E in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854586EnsemblClinVar.1
Natural variantiVAR_007890405M → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344472EnsemblClinVar.1
Natural variantiVAR_007891408G → E in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344474EnsemblClinVar.1
Natural variantiVAR_007892408G → R in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344473EnsemblClinVar.1
Natural variantiVAR_078386409A → G in CGD. 1 Publication1
Natural variantiVAR_071863412G → E in CGD. 1 Publication1
Natural variantiVAR_002440415P → H in CGD. 2 PublicationsCorresponds to variant dbSNP:rs137854585EnsemblClinVar.1
Natural variantiVAR_007893415P → L in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854585EnsemblClinVar.1
Natural variantiVAR_025622420L → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344486EnsemblClinVar.1
Natural variantiVAR_007894422S → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344475EnsemblClinVar.1
Natural variantiVAR_007895453W → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344476EnsemblClinVar.1
Natural variantiVAR_068012488A → D in CGD. 1 Publication1
Natural variantiVAR_068013500D → E in CGD. 1 Publication1
Natural variantiVAR_002441500D → G in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854593EnsemblClinVar.1
Natural variantiVAR_047275505L → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344490EnsemblClinVar.1
Natural variantiVAR_007896516W → C in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344477EnsemblClinVar.1
Natural variantiVAR_025623516W → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344487EnsemblClinVar.1
Natural variantiVAR_007897534V → D in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344478EnsemblClinVar.1
Natural variantiVAR_007898537C → R in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344454EnsemblClinVar.1
Natural variantiVAR_047276546L → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344492EnsemblClinVar.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. 1 PublicationCorresponds to variant dbSNP:rs151344497EnsemblClinVar.1
Natural variantiVAR_065366231Q → P in IMD34. 1 PublicationCorresponds to variant dbSNP:rs151344498EnsemblClinVar.1

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

DisGeNETi1536
GeneReviewsiCYBB
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...) asparagine1 Publication1
Glycosylationi149N-linked (GlcNAc...) asparagine1 Publication1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Glycosylationi240N-linked (GlcNAc...) asparagine1 Publication1
Cross-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki294Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki299Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki306Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki328Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki334Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki381Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki506Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki567Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

Post-translational modificationi

Glycosylated.1 Publication
Phosphorylated on Ser and Thr residues.1 Publication
Undergoes 'Lys-48'-linked polyubiquitination, likely by RNF145, triggering endoplasmic reticulum-associated degradation.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

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, 9 interactors
DIPiDIP-42005N
IntActiP04839, 2 interactors
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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0039 Eukaryota
ENOG410XNZY LUCA
GeneTreeiENSGT00550000074350
HOGENOMiHOG000216669
HOVERGENiHBG003760
InParanoidiP04839
KOiK21421
OMAiKAGQWLF
OrthoDBiEOG091G09RV
PhylomeDBiP04839
TreeFamiTF105354

Family and domain databases

InterProiView protein in InterPro
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
PfamiView protein in Pfam
PF08022 FAD_binding_8, 1 hit
PF01794 Ferric_reduct, 1 hit
PF08030 NAD_binding_6, 1 hit
PRINTSiPR00466 GP91PHOX
SUPFAMiSSF63380 SSF63380, 1 hit
PROSITEiView protein in PROSITE
PS51384 FAD_FR, 1 hit

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. 1 PublicationCorresponds to variant dbSNP:rs151344455EnsemblClinVar.1
Natural variantiVAR_02561341Y → D in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344453EnsemblClinVar.1
Natural variantiVAR_04726554 – 55Missing in CGD. 1 Publication2
Natural variantiVAR_02561454R → M in CGD. 3 PublicationsCorresponds to variant dbSNP:rs151344479EnsemblClinVar.1
Natural variantiVAR_00787454R → S in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344456EnsemblClinVar.1
Natural variantiVAR_02561555A → D in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344480EnsemblClinVar.1
Natural variantiVAR_00884557A → E in CGD. 3 PublicationsCorresponds to variant dbSNP:rs151344481EnsemblClinVar.1
Natural variantiVAR_00787559C → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344457EnsemblClinVar.1
Natural variantiVAR_04726659C → W in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344488EnsemblClinVar.1
Natural variantiVAR_002432101H → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854591EnsemblClinVar.1
Natural variantiVAR_007876101H → Y in CGD. 2 PublicationsCorresponds to variant dbSNP:rs137854594EnsemblClinVar.1
Natural variantiVAR_007877119H → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344458EnsemblClinVar.1
Natural variantiVAR_002433156A → T in CGD. 2 PublicationsCorresponds to variant dbSNP:rs137854590EnsemblClinVar.1
Natural variantiVAR_065365178T → P in IMD34. 1 PublicationCorresponds to variant dbSNP:rs151344497EnsemblClinVar.1
Natural variantiVAR_047267179G → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344491EnsemblClinVar.1
Natural variantiVAR_047268193S → F in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344493EnsemblClinVar.1
Natural variantiVAR_047269205F → I in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344496EnsemblClinVar.1
Natural variantiVAR_007878209H → Q in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344459EnsemblClinVar.1
Natural variantiVAR_025616209H → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344482EnsemblClinVar.1
Natural variantiVAR_002434209H → Y in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854587EnsemblClinVar.1
Natural variantiVAR_007879215Missing in CGD. 2 Publications1
Natural variantiVAR_007880222H → N in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344460EnsemblClinVar.1
Natural variantiVAR_007881222H → R in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344462EnsemblClinVar.1
Natural variantiVAR_007882222H → Y in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344460EnsemblClinVar.1
Natural variantiVAR_007883223G → L in CGD; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variants dbSNP:rs151344463 and dbSNP:rs151344464EnsemblEnsembl.1
Natural variantiVAR_025617224A → G in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344483EnsemblClinVar.1
Natural variantiVAR_002435225E → V in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344494EnsemblClinVar.1
Natural variantiVAR_065366231Q → P in IMD34. 1 PublicationCorresponds to variant dbSNP:rs151344498EnsemblClinVar.1
Natural variantiVAR_007884244C → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344465EnsemblClinVar.1
Natural variantiVAR_002436244C → S in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854589EnsemblClinVar.1
Natural variantiVAR_002437244C → Y in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854589EnsemblClinVar.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. 2 PublicationsCorresponds to variant dbSNP:rs137854595EnsemblClinVar.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. 2 PublicationsCorresponds to variant dbSNP:rs137854596EnsemblClinVar.1
Natural variantiVAR_047271307T → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344489EnsemblClinVar.1
Natural variantiVAR_007885309E → K in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344466EnsemblClinVar.1
Natural variantiVAR_047272315Missing in CGD. 1 Publication1
Natural variantiVAR_007886322G → E in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344467EnsemblClinVar.1
Natural variantiVAR_007887325I → F in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344468EnsemblClinVar.1
Natural variantiVAR_007888333S → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344469EnsemblClinVar.1
Natural variantiVAR_071862338H → D in CGD. 1 Publication1
Natural variantiVAR_025618338H → Y in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344484EnsemblClinVar.1
Natural variantiVAR_002438339P → H in CGD. 6 PublicationsCorresponds to variant dbSNP:rs151344470EnsemblClinVar.1
Natural variantiVAR_047273342L → Q in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344495EnsemblClinVar.1
Natural variantiVAR_025619344S → F in CGD. 3 PublicationsCorresponds to variant dbSNP:rs151344485EnsemblClinVar.1
Natural variantiVAR_007889356R → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344471EnsemblClinVar.1
Natural variantiVAR_025620364G → R2 PublicationsCorresponds to variant dbSNP:rs141756032EnsemblClinVar.1
Natural variantiVAR_002439389G → A in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854586EnsemblClinVar.1
Natural variantiVAR_025621389G → E in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854586EnsemblClinVar.1
Natural variantiVAR_007890405M → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344472EnsemblClinVar.1
Natural variantiVAR_007891408G → E in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344474EnsemblClinVar.1
Natural variantiVAR_007892408G → R in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344473EnsemblClinVar.1
Natural variantiVAR_078386409A → G in CGD. 1 Publication1
Natural variantiVAR_071863412G → E in CGD. 1 Publication1
Natural variantiVAR_002440415P → H in CGD. 2 PublicationsCorresponds to variant dbSNP:rs137854585EnsemblClinVar.1
Natural variantiVAR_007893415P → L in CGD. 1 PublicationCorresponds to variant dbSNP:rs137854585EnsemblClinVar.1
Natural variantiVAR_025622420L → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344486EnsemblClinVar.1
Natural variantiVAR_007894422S → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344475EnsemblClinVar.1
Natural variantiVAR_007895453W → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344476EnsemblClinVar.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. 1 PublicationCorresponds to variant dbSNP:rs137854593EnsemblClinVar.1
Natural variantiVAR_047275505L → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344490EnsemblClinVar.1
Natural variantiVAR_007896516W → C in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344477EnsemblClinVar.1
Natural variantiVAR_025623516W → R in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344487EnsemblClinVar.1
Natural variantiVAR_025624517D → E1 PublicationCorresponds to variant dbSNP:rs151344452EnsemblClinVar.1
Natural variantiVAR_007897534V → D in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344478EnsemblClinVar.1
Natural variantiVAR_007898537C → R in CGD. 2 PublicationsCorresponds to variant dbSNP:rs151344454EnsemblClinVar.1
Natural variantiVAR_047276546L → P in CGD. 1 PublicationCorresponds to variant dbSNP:rs151344492EnsemblClinVar.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

Similar proteinsi

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: May 23, 2018
This is version 201 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

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