InnateDB Protein
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IDBP-46336.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CYBA
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Protein Name
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cytochrome b-245, alpha polypeptide
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Synonyms
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p22-PHOX;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000261623
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InnateDB Gene
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IDBG-46334 (CYBA)
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Protein Structure
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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. {ECO:0000269PubMed:15824103}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:15585859, ECO:0000269PubMed:22808130}.
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Disease Associations |
Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: 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. {ECO:0000269PubMed:10759707, ECO:0000269PubMed:10910929, ECO:0000269PubMed:10914676, ECO:0000269PubMed:1415254, ECO:0000269PubMed:1763037, ECO:0000269PubMed:18422995, ECO:0000269PubMed:2243141, ECO:0000269PubMed:8168815}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
31
[view]
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Protein-Protein |
29
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007732
Cytochrome b558 alpha-subunit
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PFAM |
PF05038
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PRINTS |
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PIRSF |
PIRSF019635
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P13498
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PhosphoSite |
PhosphoSite-P13498
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1535
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UniGene |
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RefSeq |
NP_000092
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HUGO |
HGNC:2577
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OMIM |
608508
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CCDS |
CCDS32504
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HPRD |
01989
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IMGT |
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EMBL |
AC116552
AH002664
BC006465
BT006861
M21186
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GenPept |
AAA52134
AAA90925
AAH06465
AAP35507
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