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

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: 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

Genomic context

Location:: 16q24.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	16	NC_000016.10 (88643289..88651079, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (88709697..88717492, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYBA gene polymorphisms modulate the risk of coronary artery disease but do not form a haplotype blocks
Title: Analysis of selected promoter polymorphisms and haplotypes of the <i>CYBA</i> gene encoding the p22phox, subunit of NADPH oxidases, in patients with coronary artery disease.
The present study is the first to have demonstrated an association between CYBA (rs7195830) polymorphism and the risk of developing coal workers' pneumoconiosis (CWP) in subjects belong to the Han ethnic group in China and provides further clues for research into the pathogenesis of CWP.
Title: Association of single nucleotide polymorphisms in the CYBA gene with coal workers' pneumoconiosis in the Han Chinese population.
This study observed an increase in the formation of intracranial aneurysm with p22phox-214T>C single nucleotide variation.
Title: The active participation of p22phox-214T/C in the formation of intracranial aneurysm and the suppressive potential of edaravone.
the CYBA C242T polymorphism is an independent determinant of endothelial function and subclinical atherosclerosis of the carotid arteries.
Title: Subclinical atherosclerosis and vascular stiffness in premenopausal women: association with NOS3 and CYBA polymorphisms.
Metabolic syndrome in Brazilian NAFLD patients most likely results from common allelic variants in a large number of genes, including CYBA and NOX4, that interact with each other, each of which alone determines a modest risk.
Title: Association between the CYBA and NOX4 genes of NADPH oxidase and its relationship with metabolic syndrome in non-alcoholic fatty liver disease in Brazilian population.
The TT genotype of rs4673 in the CYBA gene was associated with Diabetic Peripheral Neuropathy in Type 1 Diabetes patients (OR 4.997, 95% CI 1.403-19.083, p = 0.016).
Title: Association of Polymorphisms in CYBA, SOD1, and CAT Genes with Type 1 Diabetes and Diabetic Peripheral Neuropathy in Children and Adolescents.
T allele carriers of C242T gene polymorphism might be predisposed to overt diabetic nephropathy [meta-analysis]
Title: p22phox C242T gene polymorphism and overt diabetic nephropathy: a meta-analysis of 1,452 participants.
Three new mutations of CYBA gene in four of 22 Iranian patients with autosomal recessive-Chronic granulomatous disease were found.
Title: Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.
Data indicate an association between the GA genotype of single nucleotide polymorphism rs3794624 in cytochrome b-245, alpha polypeptide (CYBA) with decreased tuberculosis susceptibility in two Chinese populations.
Title: Heterozygote Advantage of the rs3794624 Polymorphism in CYBA for Resistance to Tuberculosis in Two Chinese Populations.
in patients with very severe chronic obstructive pulmonary disease the NADPH oxidase subunit p22phox is significantly reduced as compared to controls; p22phox is a key player in COPD and in hypoxic pulmonary vascular remodelling
Title: Hypoxic vascular response and ventilation/perfusion matching in end-stage COPD may depend on p22phox.

Submit: New GeneRIF Correction See all GeneRIFs (227)

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

Associated conditions

Description	Tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MedGen: C1856255 OMIM: 233690 GeneReviews: Chronic Granulomatous Disease	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 NHGRI GWA CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

STS-U49260 (e-PCR)
- UniSTS:38465

SHGC-60170 (e-PCR)
- UniSTS:58221

G62102 (e-PCR)
- UniSTS:139133

SHGC-60150 (e-PCR)
- UniSTS:26494

RH80030 (e-PCR)
- UniSTS:87680

D11S3114 (e-PCR)
- UniSTS:152207

RH68091 (e-PCR)
- UniSTS:26588

Homology

Homologs of the CYBA gene: The CYBA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 268 organisms have orthologs with human gene CYBA
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
electron transfer activity	IDA Inferred from Direct Assay more info	PubMed
electron transfer 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
superoxide-generating NADPH oxidase activity	IBA Inferred from Biological aspect of Ancestor 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, 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 oxidative stress	TAS Traceable Author Statement 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
electron transport chain	IEA Inferred from Electronic Annotation more info
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
innate immune response	ISS Inferred from Sequence or Structural Similarity more info
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 hypoxia	IEA Inferred from Electronic Annotation more info
response to interleukin-1	IEA Inferred from Electronic Annotation more info
smooth muscle hypertrophy	ISS Inferred from Sequence or Structural Similarity more info
superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
cell	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	HDA more info	PubMed
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

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

NG_007291.1 RefSeqGene

Range

4966..12761

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_52

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DT46

Related

ENSP00000261623.3, ENST00000261623.8

Conserved Domains (1) summary

pfam05038
Location:9 → 193

Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p13 Primary Assembly

Range

88643289..88651079 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522905.3 → 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