P13498 · CY24A_HUMAN
- ProteinCytochrome b-245 light chain
- GeneCYBA
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids195 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.
Features
Showing features for binding site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameCytochrome b-245 light chain
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP13498
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: As unassembled monomer may localize to the endoplasmic reticulum.
Features
Showing features for intramembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Intramembrane | 91-127 | |||||
Sequence: AVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVR |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Granulomatous disease, chronic, autosomal recessive, 4 (CGD4)
- Note
- DescriptionA form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
- See alsoMIM:233690
Natural variants in CGD4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_012755 | 24 | G>R | in CGD4; dbSNP:rs28941476 | |
VAR_071860 | 25 | G>D | in CGD4; dbSNP:rs179363891 | |
VAR_060576 | 25 | G>V | in CGD4; dbSNP:rs179363891 | |
VAR_060577 | 52 | L>P | in CGD4; dbSNP:rs179363890 | |
VAR_060578 | 53 | E>V | in CGD4; dbSNP:rs179363893 | |
VAR_005123 | 90 | R>Q | in CGD4; dbSNP:rs104894513 | |
VAR_060579 | 90 | R>W | in CGD4; dbSNP:rs179363892 | |
VAR_005124 | 94 | H>R | in CGD4; dbSNP:rs104894510 | |
VAR_005125 | 118 | S>R | in CGD4; dbSNP:rs104894514 | |
VAR_060580 | 124 | A>V | in CGD4; dbSNP:rs179363894 | |
VAR_060581 | 125 | A>T | in CGD4; dbSNP:rs119103269 | |
VAR_005126 | 156 | P>Q | in CGD4; dbSNP:rs104894515 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_012755 | 24 | in CGD4; dbSNP:rs28941476 | |||
Sequence: G → R | ||||||
Natural variant | VAR_071860 | 25 | in CGD4; dbSNP:rs179363891 | |||
Sequence: G → D | ||||||
Natural variant | VAR_060576 | 25 | in CGD4; dbSNP:rs179363891 | |||
Sequence: G → V | ||||||
Natural variant | VAR_060577 | 52 | in CGD4; dbSNP:rs179363890 | |||
Sequence: L → P | ||||||
Natural variant | VAR_060578 | 53 | in CGD4; dbSNP:rs179363893 | |||
Sequence: E → V | ||||||
Natural variant | VAR_005122 | 72 | in dbSNP:rs4673 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_005123 | 90 | in CGD4; dbSNP:rs104894513 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_060579 | 90 | in CGD4; dbSNP:rs179363892 | |||
Sequence: R → W | ||||||
Natural variant | VAR_005124 | 94 | in CGD4; dbSNP:rs104894510 | |||
Sequence: H → R | ||||||
Natural variant | VAR_005125 | 118 | in CGD4; dbSNP:rs104894514 | |||
Sequence: S → R | ||||||
Natural variant | VAR_060580 | 124 | in CGD4; dbSNP:rs179363894 | |||
Sequence: A → V | ||||||
Natural variant | VAR_060581 | 125 | in CGD4; dbSNP:rs119103269 | |||
Sequence: A → T | ||||||
Natural variant | VAR_005126 | 156 | in CGD4; dbSNP:rs104894515 | |||
Sequence: P → Q | ||||||
Mutagenesis | 157 | Loss of interaction with NOXO1. | ||||
Sequence: P → Q | ||||||
Natural variant | VAR_060582 | 171 | in dbSNP:rs72667005 | |||
Sequence: E → G | ||||||
Natural variant | VAR_054801 | 174 | in dbSNP:rs1049254 | |||
Sequence: V → A | ||||||
Natural variant | VAR_060583 | 193 | in dbSNP:rs72667006 | |||
Sequence: E → D |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 343 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, chain, modified residue, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Chain | PRO_0000144907 | 2-195 | UniProt | Cytochrome b-245 light chain | |||
Sequence: GQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV | |||||||
Modified residue | 147 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 147 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Cross-link | 149 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 153 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 168 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 168 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.
Ubiquitinated at Lys-149 likely by RNF145.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
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 (via SH3 domain). Interacts with SH3PXD2A (By similarity).
Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX4 (PubMed:15927447).
Interacts with calprotectin (S100A8/9) (PubMed:22808130).
Interacts with GBP7 (By similarity).
Interacts with NOXO1 (PubMed:17140397).
Forms a heterodimer with NOX3 and is essential for activity and cell membrane localization of NOX3 (PubMed:15824103, PubMed:17140397).
Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX4 (PubMed:15927447).
Interacts with calprotectin (S100A8/9) (PubMed:22808130).
Interacts with GBP7 (By similarity).
Interacts with NOXO1 (PubMed:17140397).
Forms a heterodimer with NOX3 and is essential for activity and cell membrane localization of NOX3 (PubMed:15824103, PubMed:17140397).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P13498 | NCF1 P14598 | 7 | EBI-986058, EBI-395044 | |
BINARY | P13498 | NOXO1 Q8NFA2 | 4 | EBI-986058, EBI-7130806 | |
BINARY | P13498 | NOXO1 Q8NFA2-3 | 3 | EBI-986058, EBI-20557410 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 134-195 | Disordered | ||||
Sequence: IEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV |
Sequence similarities
Belongs to the p22phox family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length195
- Mass (Da)21,013
- Last updated2010-11-02 v3
- Checksum428427AD19398240
Computationally mapped potential isoform sequences
There are 13 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H3BT77 | H3BT77_HUMAN | CYBA | 130 | ||
H3BR52 | H3BR52_HUMAN | CYBA | 128 | ||
H3BPZ7 | H3BPZ7_HUMAN | CYBA | 145 | ||
H3BPX1 | H3BPX1_HUMAN | CYBA | 145 | ||
H3BNP7 | H3BNP7_HUMAN | CYBA | 210 | ||
A0A8Q3WLM1 | A0A8Q3WLM1_HUMAN | CYBA | 176 | ||
A0A8Q3WL14 | A0A8Q3WL14_HUMAN | CYBA | 178 | ||
A0A8Q3WL20 | A0A8Q3WL20_HUMAN | CYBA | 204 | ||
A0A8Q3WL26 | A0A8Q3WL26_HUMAN | CYBA | 254 | ||
A0A8Q3WL27 | A0A8Q3WL27_HUMAN | CYBA | 175 | ||
A0A8Q3SIH4 | A0A8Q3SIH4_HUMAN | CYBA | 167 | ||
A0A8Q3SIJ9 | A0A8Q3SIJ9_HUMAN | CYBA | 129 | ||
A0A8Q3SJ80 | A0A8Q3SJ80_HUMAN | CYBA | 153 |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M21186 EMBL· GenBank· DDBJ | AAA90925.1 EMBL· GenBank· DDBJ | mRNA | ||
BT006861 EMBL· GenBank· DDBJ | AAP35507.1 EMBL· GenBank· DDBJ | mRNA | ||
AC116552 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC006465 EMBL· GenBank· DDBJ | AAH06465.1 EMBL· GenBank· DDBJ | mRNA | ||
AH002664 EMBL· GenBank· DDBJ | AAA52134.1 EMBL· GenBank· DDBJ | Genomic DNA |