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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
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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)

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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_000101.4NP_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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