Seroatlas · Human Serome Atlas

CBY1

Protein chibby homolog 1

Also known as: C22orf2, Cby, CBY1_HUMAN, Chibby, Chibby1, PGEA1, PIGEA-14, PIGEA14

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

Protein identityUniProt · HPA

UniProt accession: Q9Y3M2
Gene: CBY1
Ensembl: ENSG00000100211
Chromosome: 22
Canonical length: 126 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Centrosome
Quaternary structure: Homodimer

OverviewNCBI Gene

Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

126 residues, UniProt reviewed canonical sequence.

>Q9Y3M2|CBY1
     1  MPFFGNTFSP KKTPPRKSAS LSNLHSLDRS TREVELGLEY GSPTMNLAGQ SLKFENGQWI
    61  AETGVSGGVD RREVQRLRRR NQQLEEENNL LRLKVDILLD MLSESTAESH LMEKELDELR
   121  ISRKRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CBY1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 53 nTPM
choroid plexus: 51 nTPM
colon: 47 nTPM
heart muscle: 46 nTPM
epididymis: 45 nTPM
adrenal gland: 42 nTPM

Single-cell type

fallopian tube ciliated cells: 132 nCPM
respiratory ciliated cells: 116 nCPM
cytotrophoblasts: 110 nCPM
endometrial ciliated cells: 102 nCPM
epididymal efferent duct ciliated cells: 94 nCPM
early spermatids: 77 nCPM

Immune cell

naive CD4 T-cell: 17 nTPM
MAIT T-cell: 13 nTPM
naive CD8 T-cell: 13 nTPM
memory CD4 T-cell: 12 nTPM
memory CD8 T-cell: 11 nTPM
naive B-cell: 11 nTPM

Brain region

thalamus: 24 nTPM
choroid plexus: 23 nTPM
midbrain: 23 nTPM
medulla oblongata: 22 nTPM
basal ganglia: 22 nTPM
spinal cord: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CBY1.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 15 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joubert syndrome

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): 1.5
gnomAD pLI: 0
gnomAD missense Z: 0.44
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CBY1 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 CBY1 as an antibody target. Whether an autoantibody or antibody against CBY1 could matter depends on whether native CBY1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CBY1 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 CBY1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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