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

    Gene ID: 1535, updated on 22-Apr-2017
    Official Symbol
    CYBAprovided by HGNC
    Official Full Name
    cytochrome b-245 alpha chainprovided by HGNC
    Primary source
    HGNC:HGNC:2577
    See related
    Ensembl:ENSG00000051523 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]
    Orthologs
    Location:
    16q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (88643289..88651084, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88709697..88717492, complement)

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

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
    MedGen: C1856255 OMIM: 233690 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef 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
    Tat tat HIV-1 Tat and cocaine treatment upregulates the expression of NADPH oxidase-p22Phox in human pulmonary arterial smooth muscle cells PubMed

    Go to the HIV-1, Human 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 ...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • 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...
    • Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
      Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • 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...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • 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...
    • 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
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate NADPH Oxidases, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate NADPH Oxidases, organism-specific biosystemNADPH oxidases (NOX) are membrane-associated enzymatic complexes that use NADPH as an electon donor to reduce oxygen and produce superoxide (O2-) that serves as a secondary messenger (Brown and Grien...
    • ROS, RNS production in phagocytes, organism-specific biosystem (from REACTOME)
      ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
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    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
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    • TNF alpha Signaling Pathway, organism-specific biosystem (from WikiPathways)
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    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ43590, FLJ99071

    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 
    superoxide-generating NADPH oxidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
     
    cell redox homeostasis TAS
    Traceable Author Statement
    more info
     
    cellular response to L-glutamine IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to angiotensin 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 
    negative regulation of glomerular filtration by angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of NAD(P)H oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mucus secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of reactive oxygen species biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of superoxide anion generation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of toll-like receptor 2 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia 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
     
    response to reactive oxygen species TAS
    Traceable Author Statement
    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 
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with 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
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule TAS
    Traceable Author Statement
    more info
    PubMed 
    specific granule membrane TAS
    Traceable Author Statement
    more info
     
    stress fiber IEA
    Inferred from Electronic Annotation
    more info
     
    tertiary granule membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    cytochrome b-245 light chain
    Names
    cytochrome b light chain
    cytochrome b(558) alpha chain
    cytochrome b(558) alpha-subunit
    cytochrome b, alpha polypeptide
    cytochrome b-245, alpha polypeptide
    cytochrome b558 subunit alpha
    flavocytochrome b-558 alpha polypeptide
    neutrophil cytochrome b 22 kDa polypeptide
    p22 phagocyte B-cytochrome
    p22phox
    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 identical proteins and their annotated locations for NP_000092.2

      Status: VALIDATED

      Source sequence(s)
      AC116552, AK300049, BC006465, BT006861
      Consensus CDS
      CCDS32504.1
      UniProtKB/Swiss-Prot
      P13498
      UniProtKB/TrEMBL
      B4DT46
      Related
      ENSP00000261623.3, OTTHUMP00000250306, ENST00000261623.7, OTTHUMT00000422765
      Conserved Domains (1) summary
      pfam05038
      Location:9193
      Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011522905.2XP_011521207.1  cytochrome b-245 light chain isoform X1

      UniProtKB/TrEMBL
      H3BNP7
      Related
      ENSP00000454951.1, OTTHUMP00000250470, ENST00000567174.5, OTTHUMT00000422771
      Conserved Domains (1) summary
      pfam05038
      Location:9126
      Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

    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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