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

    Gene ID: 1535, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:2577
    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
    mouse all
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    Genomic context

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    See CYBA in Genome Data Viewer
    Location:
    16q24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88643289..88651053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94711169..94718983, complement)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88701182-88702111 Neighboring gene uncharacterized LOC124903755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88707025-88707852 Neighboring gene interleukin 17C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88715799-88716694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88716695-88717588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88717589-88718483 Neighboring gene mevalonate diphosphate decarboxylase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7866 Neighboring gene SNAI3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88743941-88744698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88744699-88745454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88747432-88748253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11365 Neighboring gene snail family transcriptional repressor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7868

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Activity of NAD(P)H oxidase in relation to genotypes: comprehensive genetic mapping of single nucleotide polymorphisms (SNPs) in the p22(phox) subunit. Hoffmann M, et al. Int J Clin Pharmacol Ther, 2009 Jan. PMID 19203534
    2. The effect of p22(phox) -930A/G, A640G and C242T polymorphisms of NADPH oxidase on peripheral and central pressures in healthy, normotensive individuals. Xaplanteris P, et al. Hypertens Res, 2010 Aug. PMID 20505675
    3. NAD(P)H oxidase and pro-inflammatory response during maximal exercise: role of C242T polymorphism of the P22PHOX subunit. Izzicupo P, et al. Int J Immunopathol Pharmacol, 2010 Jan-Mar. PMID 20378006
    4. A functional polymorphism in the NAD(P)H oxidase subunit CYBA is related to gene expression, enzyme activity, and outcome in non-Hodgkin lymphoma. Hoffmann M, et al. Cancer Res, 2010 Mar 15. PMID 20215507
    5. Association of p22phox gene C242T polymorphism with coronary artery disease: a meta-analysis. Fang S, et al. Thromb Res, 2010 May. PMID 20100625

    See all (351) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population.
      Title: Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population.
    2. Structure of human phagocyte NADPH oxidase in the activated state.
      Title: Structure of human phagocyte NADPH oxidase in the activated state.
    3. CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.
      Title: CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.
    4. CYBA allelic variants are associated with severity and recovery in Guillain-Barre syndrome.
      Title: CYBA allelic variants are associated with severity and recovery in Guillain-Barré syndrome.
    5. Characterization of missense mutations in the NADPH oxidase partner p22[phox] in the A22 degrees subtype of chronic granulomatous disease.
      Title: Characterization of missense mutations in the NADPH oxidase partner p22(phox) in the A22° subtype of chronic granulomatous disease.
    6. ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.
      Title: ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.
    7. Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.
      Title: Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.
    8. Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia.
      Title: Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia.
    9. Impact of CYBA genotypes on severity and progression of multiple sclerosis.
      Title: Impact of CYBA genotypes on severity and progression of multiple sclerosis.
    10. Urinary Sediment mRNA Level of CREBBP and CYBA in Children With Steroid-Resistant Nephrotic Syndrome.
      Title: Urinary Sediment mRNA Level of CREBBP and CYBA in Children With Steroid-Resistant Nephrotic Syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (248)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 cytochrome complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in establishment of localization in cell 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 mucus secretion 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 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 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 respiratory burst NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    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
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    part_of NADPH oxidase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 tertiary granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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    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_000101.4 → NP_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, Q14090, Q9BR72
      UniProtKB/TrEMBL
      A0A8Q3WL20
      Related
      ENSP00000261623.3, ENST00000261623.8
      Conserved Domains (1) summary
      pfam05038
      Location:9 → 193
      Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      88643289..88651053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522905.4 → XP_011521207.1  cytochrome b-245 light chain isoform X1

      UniProtKB/TrEMBL
      H3BNP7
      Related
      ENSP00000454951.1, ENST00000567174.5
      Conserved Domains (1) summary
      pfam05038
      Location:9 → 126
      Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      94711169..94718983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379693.1 → XP_054235668.1  cytochrome b-245 light chain isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13498.3 GenPept UniProtKB/Swiss-Prot:P13498

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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