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

Summary

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Official Symbol: CYBAprovided by HGNC
Official Full Name: cytochrome b-245, alpha polypeptideprovided by HGNC
Primary source: HGNC:2577
See related: Ensembl:ENSG00000051523; HPRD:01989; 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]

Genomic context

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Location :: 16q24

Sequence :: Chromosome: 16; NC_000016.9 (88709697..88717492, complement)

See CYBA in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The NADPH C242T polymorphism is not associated with the degree of oxidative stress and carotid atherosclerosis in diabetic patients.
Title: Association of the C242T polymorphism in the NADPH oxidase p22 phox gene with carotid atherosclerosis in Slovenian patients with type 2 diabetes.
FLT3 driven H2O2 production in acute myeloid leukemia cells is mediated by p22phox and is critical for STAT5 signalling.
Title: H2O2 production downstream of FLT3 is mediated by p22phox in the endoplasmic reticulum and is required for STAT5 signalling.
The data point to four strategic (87)HEES(90) amino acid residues of the S100A8 C-terminal sequence that are involved directly in the molecular interaction with cytochrome b(558) and then in the phagocyte NADPH oxidase activation.
Title: Molecular interface of S100A8 with cytochrome b558 and NADPH oxidase activation.
Common polymorphisms of the CYBA gene that encodes p22phox subunit of NADPH oxidase do not influence aortic stiffness in young, healthy individuals.
Title: Common single nucleotide polymorphisms of the p22phox NADPH oxidase subunit do not influence aortic stiffness in young, healthy adults.
In amateur runners, CYBA variants may influence both systolic and diastolic function and arterial stiffness.
Title: NAD(P)H oxidase p22(phox) polymorphism and cardiovascular function in amateur runners.
C242T (rs4673) CYBA polymorphisms did not have a different allele or genotype distribution between normal and high tension glaucoma patients.
Title: No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients.
Genetic polymorphism of p22-phox protein considered as potential predictor of severity of metabolic syndrom target organs impairment.
Title: [Remodeling of the cardiovascular system and development of chronic kidney disease in patients with metabolic syndrome and obesity: role of eNOS, subunit p22-phox of NADPH-oxidase and MTHFR genes].
The rs1049255 and rs7195830 polymorphisms of the CYBA gene were associated with small artery elasticity in a Chinese population; physical activity could modify this genetic effect.
Title: Physical activity modifies the association between CYBA gene polymorphisms and small artery elasticity in a Chinese population.
NADPH oxidase-derived reactive oxygen species are critical to leukotriene B(4) pro-survival effect on neutrophils. This effect also relies on redox modulation of nuclear factor kappaB signaling pathway.
Title: Leukotriene B(4) inhibits neutrophil apoptosis via NADPH oxidase activity: redox control of NF-κB pathway and mitochondrial stability.
The CYBA C242T polymorphism has been associated with cardiovascular phenotypes such as hypertension and atherosclerosis
Title: CYBA C242T polymorphism is associated with obesity and diabetes mellitus in Brazilian hypertensive patients.

Submit: New GeneRIF Correction See all (155)

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

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

MIM: 233690

Genetic Testing Registry

Summary from GeneReviews: Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic oto-sino-pulmonary disease. More than 75% of full-term neonates with PCD have 'neonatal respiratory distress' requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 6%. Approximately 50% of males with PCD are infertile as a result of abnormal sperm motility.

Diagnosis Testing

The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either (1) specific ciliary ultrastructural defects identified by transmission electron microscopy in biopsy samples of the respiratory epithelium or (2) mutation in one of seventeen genes known to be associated with PCD: DNAI1, DNAAF3, DNAH5, HYDIN, NME8, DNAH11, DNAI2, DNAAF2 (C14orf104), RSPH4A, RSPH9, DNAAF1 (LRRC50), CCDC39, CCDC40, DNAL1, CCDC103, HEATR2, and LRRC6. Biallelic mutations in: DNAI1 account for approximately 2%-9% of all PCD; DNAH5 account for approximately 15%-21% of all PCD. Molecular genetic testing of fifteen of the known genes is available on a clinical basis.

Genetic Counseling

PCD is inherited in an autosomal recessive manner. The parents of an affected individual are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.

References

PMID: 20301301

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Nef, p27	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

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000092.1		NOX1	BIND	PubMed	Nox1 interacts with p22phox.
P13498	P04839	CYBB	HPRD	PubMed
P13498	P14598	NCF1	HPRD	PubMed
P13498	P19878	NCF2	HPRD	PubMed
P13498	Q15080	NCF4	HPRD	PubMed
P13498	Q9Y5S8	NOX1	HPRD	PubMed
P13498	P63000	RAC1	HPRD	PubMed
BioGRID:107915	BioGRID:107765	CPT1A	BioGRID	PubMed	Two-hybrid
BioGRID:107915	BioGRID:110353	MDFI	BioGRID	PubMed	Two-hybrid
BioGRID:107915	BioGRID:575724	NCF1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107915	BioGRID:110768	NCF2	BioGRID	PubMed	Protein-peptide; Reconstituted Complex
BioGRID:107915	BioGRID:117406	RCHY1	BioGRID	PubMed	Two-hybrid
BioGRID:107915	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107915	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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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 ...
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...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
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...
Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystem (from REACTOME)
Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystemInfection by Mycobacterium tuberculosis (Mtb) is soon countered by the host's immune system, the organism is however almost never eradicated; ten per cent of infections will develop into "open tuberc...
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...
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...
Phagosomal maturation (early endosomal stage), organism-specific biosystem (from REACTOME)
Phagosomal maturation (early endosomal stage), organism-specific biosystemAlveolar macrophages normally develop their phagosome along the endolysosomal pathway. However, after having internalized Mtb, this development is arrested at an early stage and only includes acidifi...
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

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

Genotypes

See CYBA SNP Geneview Report
See CYBA SNP Genotype Report
See CYBA SNP Variation Viewer Report

Homology

Homologs of the CYBA gene: The CYBA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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

Process	Evidence Code	Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class I	TAS Traceable Author Statement more info
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS Traceable Author Statement more info
antigen processing and presentation of peptide antigen via MHC class I	TAS Traceable Author Statement more info
cellular response to amino acid stimulus	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
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
interaction with host	TAS Traceable Author Statement more info
negative regulation of glomerular filtration by angiotensin	IEA Inferred from Electronic Annotation more info
oxidation-reduction process	IMP Inferred from Mutant Phenotype more info	PubMed
phagosome maturation	TAS Traceable Author Statement more info
positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
positive regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
respiratory burst	IMP Inferred from Mutant Phenotype more info	PubMed
response to drug	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
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

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
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
mitochondrion	IEA Inferred from Electronic Annotation more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
phagocytic vesicle membrane	TAS Traceable Author Statement more info
secretory granule	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: cytochrome b-245 light chain

Names: cytochrome b-245 light chain; p22phox; cytochrome b light chain; p22 phagocyte B-cytochrome; cytochrome b(558) alpha chain; cytochrome b558 subunit alpha; cytochrome b(558) alpha-subunit; cytochrome b, alpha polypeptide; flavocytochrome b-558 alpha polypeptide; neutrophil cytochrome b 22 kDa polypeptide; 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_000101.3 → NP_000092.2 cytochrome b-245 light chain

Status: VALIDATED

Source sequence(s)

AC116552, AK300049, BC006465, BT006861

Consensus CDS

CCDS32504.1

UniProtKB/TrEMBL

B4DT46

UniProtKB/Swiss-Prot

P13498

Related

ENSP00000261623, OTTHUMP00000250306, ENST00000261623, OTTHUMT00000422765

Conserved Domains (1) summary

pfam05038
Location:2 – 195
Blast Score: 695

Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

88709697..88717492, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

74403728..74411523, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

89711687..89719481, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01015843.1 (39449..47244)	None
genomic	AC116552.2 (15496..23292)	None
genomic	AMYH01007912.1 (12494..20288)	None
genomic	CH471184.2	EAW66793.1
		EAW66794.1
		EAW66795.1
		EAW66796.1
mRNA	AK097127.1	None
mRNA	AK125578.1	None
mRNA	AK300049.1	BAG61858.1
mRNA	AK309030.1	None
mRNA	BC006465.1	AAH06465.1
mRNA	BC011565.1	None
mRNA	BC028224.1	None
mRNA	BC033739.1	None
mRNA	BT006861.1	AAP35507.1
mRNA	BX109994.1	None
mRNA	M21186.1	AAA90925.1
other-genetic	DQ893235.2	ABM84161.1
other-genetic	DQ896565.2	ABM87564.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P13498.3	GenPept	UniProtKB/Swiss-Prot:P13498

Additional links

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Additional Links

Epigenomics
MIM 608508
CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox CYBAbase/
GeneTests for MIM: 233690
GeneTests for MIM: 608508
CYBA homepage - Mendelian genes CYBA
Resource of Asian Primary Immunodeficiency Diseases (RAPID) AGID_50
UCSC UCSC
UniGene Hs.513803