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

    Gene ID: 1535, updated on 19-Jul-2021

    Summary

    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
    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
    CGD4; 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]
    Expression
    Broad expression in bone marrow (RPKM 72.4), spleen (RPKM 55.1) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CYBA in Genome Data Viewer
    Location:
    16q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (88643289..88651079, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88709697..88717461, 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
    MedGen: C1856255 OMIM: 233690 GeneReviews: Chronic Granulomatous Disease
    Compare labs
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ43590, FLJ99071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables electron transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to superoxide-generating NAD(P)H oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to L-glutamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytochrome complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of glomerular filtration by angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NAD(P)H oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of mucus secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of superoxide anion generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of toll-like receptor 2 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in superoxide anion generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in superoxide metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NADPH oxidase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000101.4NP_000092.2  cytochrome b-245 light chain

      See identical proteins and their annotated locations for NP_000092.2

      Status: VALIDATED

      Source sequence(s)
      AC116552
      Consensus CDS
      CCDS32504.1
      UniProtKB/Swiss-Prot
      P13498
      UniProtKB/TrEMBL
      B4DT46
      Related
      ENSP00000261623.3, ENST00000261623.8
      Conserved Domains (1) summary
      pfam05038
      Location:9193
      Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      88643289..88651079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522905.3XP_011521207.1  cytochrome b-245 light chain isoform X1

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