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CYBA cytochrome b-245, alpha polypeptide [ Homo sapiens (human) ]

Gene ID: 1535, updated on 14-Apr-2014
Official Symbol
CYBAprovided by HGNC
Official Full Name
cytochrome b-245, alpha polypeptideprovided by HGNC
Primary source
HGNC:2577
See related
Ensembl:ENSG00000051523; HPRD:01989; MIM:608508; Vega:OTTHUMG00000173320
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p22-PHOX
Summary
Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
Location :
16q24
Sequence :
Chromosome: 16; NC_000016.10 (88643289..88651084, complement)
See CYBA in Epigenomics, MapViewer

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 18 Neighboring gene interleukin 17C Neighboring gene mevalonate (diphospho) decarboxylase Neighboring gene SNAI3 antisense RNA 1 Neighboring gene snail family zinc finger 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Nef, p27 nef A specific physical association between HIV-1 Nef (amino acids 105-109) and the p22-phox component ( amino acids 126-129) of the NADPH oxidase complex is demonstrated by biochemistry and computer analysis PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
    Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystem (from REACTOME)
    Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystemDendritic cells (DCs) take up and process exogenous particulate or cell-associated antigens such as microbes or tumor cells for MHC-I cross-presentation. Particulate antigens have been reported to be...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystem (from REACTOME)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystemInfection by Mycobacterium tuberculosis (Mtb) is soon countered by the host's immune system, the organism is however almost never eradicated; ten per cent of infections will develop into "open tuberc...
  • Leishmaniasis, organism-specific biosystem (from KEGG)
    Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Leishmaniasis, conserved biosystem (from KEGG)
    Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Osteoclast differentiation, organism-specific biosystem (from KEGG)
    Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Osteoclast differentiation, conserved biosystem (from KEGG)
    Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Oxidative Stress, organism-specific biosystem (from WikiPathways)
    Oxidative Stress, organism-specific biosystemOxidative stress represents an imbalance between the production and manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to rep...
  • Phagosomal maturation (early endosomal stage), organism-specific biosystem (from REACTOME)
    Phagosomal maturation (early endosomal stage), organism-specific biosystemAlveolar macrophages normally develop their phagosome along the endolysosomal pathway. However, after having internalized Mtb, this development is arrested at an early stage and only includes acidifi...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    RAC1 signaling pathway, organism-specific biosystem
    RAC1 signaling pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
electron carrier activity IDA
Inferred from Direct Assay
more info
PubMed 
electron carrier activity TAS
Traceable Author Statement
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to superoxide-generating NADPH oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
cellular response to amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
cytochrome complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen peroxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
interaction with host TAS
Traceable Author Statement
more info
 
negative regulation of glomerular filtration by angiotensin IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagosome maturation TAS
Traceable Author Statement
more info
 
positive regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
respiratory burst IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
smooth muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
superoxide anion generation IMP
Inferred from Mutant Phenotype
more info
PubMed 
superoxide metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
NADPH oxidase complex IDA
Inferred from Direct Assay
more info
PubMed 
NADPH oxidase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
secretory granule TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
cytochrome b-245 light chain
Names
cytochrome b-245 light chain
p22phox
cytochrome b light chain
p22 phagocyte B-cytochrome
cytochrome b(558) alpha chain
cytochrome b558 subunit alpha
cytochrome b(558) alpha-subunit
cytochrome b, alpha polypeptide
flavocytochrome b-558 alpha polypeptide
neutrophil cytochrome b 22 kDa polypeptide
superoxide-generating NADPH oxidase light chain subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007291.1 RefSeqGene

    Range
    4966..12761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_52

mRNA and Protein(s)

  1. NM_000101.3NP_000092.2  cytochrome b-245 light chain

    See proteins identical to NP_000092.2

    Status: VALIDATED

    Source sequence(s)
    AC116552, AK300049, BC006465, BT006861
    Consensus CDS
    CCDS32504.1
    UniProtKB/TrEMBL
    B4DT46
    UniProtKB/Swiss-Prot
    P13498
    Related
    ENSP00000261623, OTTHUMP00000250306, ENST00000261623, OTTHUMT00000422765
    Conserved Domains (1) summary
    pfam05038
    Location:2195
    Blast Score: 781
    Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38 Primary Assembly

    Range
    88643289..88651084, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 Alternate HuRef

    Range
    74403728..74411523, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    90120999..90128842, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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