Seroatlas · Human Serome Atlas

CYBA

Cytochrome b-245 light chain

Also known as: CY24A_HUMAN, p22-PHOX

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P13498
Gene: CYBA
Ensembl: ENSG00000051523
Chromosome: 16
Canonical length: 195 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

195 residues, UniProt reviewed canonical sequence.

>P13498|CYBA
     1  MGQIEWAMWA NEQALASGLI LITGGIVATA GRFTQWYFGA YSIVAGVFVC LLEYPRGKRK
    61  KGSTMERWGQ KYMTAVVKLF GPFTRNYYVR AVLHLLLSVP AGFLLATILG TACLAIASGI
   121  YLLAAVRGEQ WTPIEPKPRE RPQIGGTIKQ PPSNPPPRPP AEARKKPSEE EAAVAAGGPP
   181  GGPQVNPIPV TDEVV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYBA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 782 nTPM

Expression across tissuesHPA

Tissue

spleen: 782 nTPM
bone marrow: 778 nTPM
lymph node: 361 nTPM
appendix: 353 nTPM
small intestine: 269 nTPM
lung: 269 nTPM

Single-cell type

plasma cells: 2,875 nCPM
hofbauer cells: 2,227 nCPM
neutrophils: 1,832 nCPM
kupffer cells: 1,789 nCPM
pdcs: 1,603 nCPM
monocytes: 1,479 nCPM

Immune cell

eosinophil: 757 nTPM
plasmacytoid DC: 205 nTPM
neutrophil: 199 nTPM
intermediate monocyte: 155 nTPM
non-classical monocyte: 149 nTPM
basophil: 130 nTPM

Brain region

white matter: 168 nTPM
medulla oblongata: 129 nTPM
spinal cord: 113 nTPM
thalamus: 110 nTPM
choroid plexus: 104 nTPM
pons: 103 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYBA.

Disease | AllUniProt

Conditions CYBA is implicated in, by any mechanism.

Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) MIM:233690

Disease | GeneticClinVar

76 pathogenic / likely-pathogenic of 519 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease
CYBA-related disorder
Polyglandular autoimmune syndrome, type 1

Disease | ImmuneIEDB

Conditions an epitope on CYBA was assayed in.

rejection of transplanted organs and tissues T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.63
gnomAD pLI: 0
gnomAD missense Z: 0.22
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cytochrome b558 alpha-subunit
Cytochrome Cytochrome b558 alpha-subunit

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CYBA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYBA as an antibody target. Whether an autoantibody or antibody against CYBA could matter depends on whether native CYBA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYBA is annotated at the cell surface, where native CYBA is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CYBA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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