Cyba cytochrome b-245, alpha polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cybaprovided by MGI
Official Full Name: cytochrome b-245, alpha polypeptideprovided by MGI
Primary source: MGI:MGI:1316658
See related: Ensembl:ENSMUSG00000006519 AllianceGenome:MGI:1316658
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: b558; nmf333; p22phox; p22-phox
Summary: Predicted to enable SH3 domain binding activity; electron transfer activity; and protein heterodimerization activity. Predicted to contribute to superoxide-generating NAD(P)H oxidase activity. Involved in innate immune response. Acts upstream of or within positive regulation of mucus secretion; reactive oxygen species metabolic process; and regulation of release of sequestered calcium ion into cytosol. Located in endosome. Part of NADPH oxidase complex. Is expressed in several structures, including genitourinary system; hemolymphoid system; inner ear; limb; and liver. Human ortholog(s) of this gene implicated in artery disease (multiple); asthma; chronic obstructive pulmonary disease; and phagocyte bactericidal dysfunction (multiple). Orthologous to human CYBA (cytochrome b-245 alpha chain). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in kidney adult (RPKM 399.2), spleen adult (RPKM 288.4) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 71.04 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (123151510..123159679, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (122424771..122432940, complement)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The atypical small GTPase GEM/Kir is a negative regulator of the NADPH oxidase and NETs production through macroautophagy.
Title: The atypical small GTPase GEM/Kir is a negative regulator of the NADPH oxidase and NETs production through macroautophagy.
Granuloma Formation in a Cyba-Deficient Model of Chronic Granulomatous Disease Is Associated with Myeloid Hyperplasia and the Exhaustion of B-Cell Lineage.
Title: Granuloma Formation in a Cyba-Deficient Model of Chronic Granulomatous Disease Is Associated with Myeloid Hyperplasia and the Exhaustion of B-Cell Lineage.
ROS production and mitochondrial dysfunction driven by PU.1-regulated NOX4-p22(phox) activation in Abeta-induced retinal pigment epithelial cell injury.
Title: ROS production and mitochondrial dysfunction driven by PU.1-regulated NOX4-p22(phox) activation in Aβ-induced retinal pigment epithelial cell injury.
Cyba-deficient mice display an increase in hematopoietic stem cells and an overproduction of immunoglobulins.
Title: Cyba-deficient mice display an increase in hematopoietic stem cells and an overproduction of immunoglobulins.
NOX2 deficiency results in both granulomas and the accumulation of antitumoural immune cells in the lungs that probably mediate the decreased pulmonary metastatic colonization.
Title: Pulmonary metastatic colonisation and granulomas in NOX2-deficient mice.
Selective deletion of p22(phox) in the PVN protected mice from high-fat DIO independent of changes in food intake or locomotor activity. This was accompanied by beta3-adrenoceptor-dependent increases in energy expenditure, elevations in brown adipose tissue thermogenesis, and browning of white adipose tissue.
Title: Deletion of p22(phox)-dependent oxidative stress in the hypothalamus protects against obesity by modulating β(3)-adrenergic mechanisms.
In p22phox(-/-) mice, hypoxic pulmonary vasoconstriction (HPV) was significantly impaired. In the chronic hypoxic setting, lack of p22phox was associated with improved right ventricular function and decreased pulmonary vascular remodelling.
Title: Hypoxic vascular response and ventilation/perfusion matching in end-stage COPD may depend on p22phox.
Together with the increased p22phox expression in lungs of asthmatic patients, findings demonstrate a crucial role of p22phox-dependent NADPH oxidase for the development of mucus hypersecretion and airway hyperresponsiveness in house dust mite-induced model of asthma.
Title: Increased Expression of p22phox Mediates Airway Hyperresponsiveness in an Experimental Model of Asthma.
Identification of a PPAR-gamma --> NF-kappaB --> p22phox neuroprotective signaling cascade opens a new avenue for protecting the brain against ischemic insult.
Title: PPAR-γ Ameliorates Neuronal Apoptosis and Ischemic Brain Injury via Suppressing NF-κB-Driven p22phox Transcription.
Knockout of the cytochrome P450 reductase by CRISPR/Cas9 technology (POR(-/-)) in HEK293 cells overexpressing Nox4 or Nox5 did not interfere with ROS production in intact cells. However, POR(-/-) abolished the signal in NADPH-stimulated assays using membrane fractions from the very same cells. Moreover, membranes of rat smooth muscle cells treated with angiotensin II showed an increased NADPH-dependent signal with lucigen
Title: Cytochrome P450 enzymes but not NADPH oxidases are the source of the NADPH-dependent lucigenin chemiluminescence in membrane assays.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (3)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126425 (e-PCR)
- UniSTS:163133

Cyba (e-PCR), detects polymorphism
- UniSTS:548034

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables electron transfer activity	IEA Inferred from Electronic Annotation more info
enables electron transfer activity	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables superoxide-generating NAD(P)H oxidase activity	IEA Inferred from Electronic Annotation more info
contributes_to superoxide-generating NAD(P)H oxidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cytochrome complex assembly	IEA Inferred from Electronic Annotation more info
involved_in cytochrome complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of glomerular filtration by angiotensin	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of blood pressure	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of defense response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phagocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of superoxide anion generation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of toll-like receptor 2 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of toll-like receptor 2 signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory burst	IEA Inferred from Electronic Annotation more info
involved_in respiratory burst	ISO Inferred from Sequence Orthology more info
involved_in smooth muscle hypertrophy	ISO Inferred from Sequence Orthology more info
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide anion generation	IEA Inferred from Electronic Annotation more info
involved_in superoxide anion generation	ISO Inferred from Sequence Orthology more info
involved_in superoxide metabolic process	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in stress fiber	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytochrome b-245 light chain

Names: cytochrome b(558) alpha chain; cytochrome b558 subunit alpha; cytochrome beta-558; neutrophil cytochrome b 22 kDa polypeptide; p22 phagocyte B-cytochrome; p22 phox; 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.

mRNA and Protein(s)

NM_001301284.1 → NP_001288213.1 cytochrome b-245 light chain isoform 2

See identical proteins and their annotated locations for NP_001288213.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant . The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK018713, AL591003, BC060635

Consensus CDS

CCDS85623.1

UniProtKB/TrEMBL

Q3TAM0

Related

ENSMUSP00000148320.2, ENSMUST00000212600.2

Conserved Domains (1) summary

pfam05038
Location:9 → 162

Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit
NM_007806.3 → NP_031832.2 cytochrome b-245 light chain isoform 1

See identical proteins and their annotated locations for NP_031832.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK152414, BY005999, CF738398

Consensus CDS

CCDS22737.1

UniProtKB/Swiss-Prot

Q3U820, Q61462, Q9CWB9, Q9D2W2

UniProtKB/TrEMBL

B3VQI8, Q3TAM0

Related

ENSMUSP00000017604.9, ENSMUST00000017604.10

Conserved Domains (1) summary

pfam05038
Location:9 → 190

Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit