Seroatlas · Human Serome Atlas

CYBC1

Cytochrome b-245 chaperone 1

Also known as: C17orf62, CYBC1_HUMAN, Eros, FLJ90469, MGC4368

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

Protein identityUniProt · HPA

UniProt accession: Q9BQA9
Gene: CYBC1
Ensembl: ENSG00000178927
Chromosome: 17
Canonical length: 187 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Plasma membrane,Cell Junctions

OverviewNCBI Gene

Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

187 residues, UniProt reviewed canonical sequence.

>Q9BQA9|CYBC1
     1  MYLQVETRTS SRLHLKRAPG IRSWSLLVGI LSIGLAAAYY SGDSLGWKLF YVTGCLFVAV
    61  QNLEDWEEAI FDKSTGKVVL KTFSLYKKLL TLFRAGHDQV VVLLHDVRDV SVEEEKVRYF
   121  GKGYMVVLRL ATGFSHPLTQ SAVMGHRSDV EAIAKLITSF LELHCLESPT ELSQSSDSEA
   181  GDPASQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYBC1 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: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 111 nTPM

Expression across tissuesHPA

Tissue

spleen: 111 nTPM
liver: 59 nTPM
small intestine: 45 nTPM
lymph node: 41 nTPM
prostate: 41 nTPM
pancreas: 40 nTPM

Single-cell type

neutrophils: 125 nCPM
hofbauer cells: 108 nCPM
plasma cells: 80 nCPM
b-cells: 71 nCPM
epididymal principal cells: 68 nCPM
microglia: 65 nCPM

Immune cell

neutrophil: 287 nTPM
basophil: 207 nTPM
eosinophil: 171 nTPM
intermediate monocyte: 170 nTPM
non-classical monocyte: 162 nTPM
total PBMC: 151 nTPM

Brain region

medulla oblongata: 16 nTPM
white matter: 16 nTPM
pons: 12 nTPM
cerebral cortex: 12 nTPM
cerebellum: 11 nTPM
spinal cord: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYBC1.

Disease | AllUniProt

Conditions CYBC1 is implicated in, by any mechanism.

Granulomatous disease, chronic, autosomal recessive, 5 (CGD5) MIM:618935

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Granulomatous disease, chronic, autosomal recessive, 5

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): 1.31
gnomAD pLI: 0
DepMap mean gene effect: 0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cytochrome b-245 chaperone 1
Cytochrome b-245 chaperone 1 / Eros

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CYBC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CYBB

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYBC1 as an antibody target. Whether an autoantibody or antibody against CYBC1 could matter depends on whether native CYBC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYBC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYBC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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