Seroatlas · Human Serome Atlas

CCBE1

Collagen and calcium-binding EGF domain-containing protein 1

Also known as: CCBE1_HUMAN, FLJ30681, KIAA1983

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

Protein identityUniProt · HPA

UniProt accession: Q6UXH8
Gene: CCBE1
Ensembl: ENSG00000183287
Chromosome: 18
Canonical length: 406 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
Subcellular location: Plasma membrane,Cytosol
Secretome location: Secreted to extracellular matrix

OverviewNCBI Gene

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

406 residues, UniProt reviewed canonical sequence.

>Q6UXH8|CCBE1
     1  MVPPPPSRGG AARGQLGRSL GPLLLLLALG HTWTYREEPE DGDREICSES KIATTKYPCL
    61  KSSGELTTCY RKKCCKGYKF VLGQCIPEDY DVCAEAPCEQ QCTDNFGRVL CTCYPGYRYD
   121  RERHRKREKP YCLDIDECAS SNGTLCAHIC INTLGSYRCE CREGYIREDD GKTCTRGDKY
   181  PNDTGHEKSE NMVKAGTCCA TCKEFYQMKQ TVLQLKQKIA LLPNNAADLG KYITGDKVLA
   241  SNTYLPGPPG LPGGQGPPGS PGPKGSPGFP GMPGPPGQPG PRGSMGPMGP SPDLSHIKQG
   301  RRGPVGPPGA PGRDGSKGER GAPGPRGSPG PPGSFDFLLL MLADIRNDIT ELQEKVFGHR
   361  THSSAEEFPL PQEFPSYPEA MDLGSGDDHP RRTETRDLRA PRDFYP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCBE1 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

ovary: 26 nTPM
skeletal muscle: 13 nTPM
cervix: 10 nTPM
lung: 8.5 nTPM
colon: 7.7 nTPM
adrenal gland: 6.8 nTPM

Single-cell type

podocytes: 1,052 nCPM
adrenal cortex cells: 960 nCPM
mesothelial cells: 413 nCPM
ovarian stromal cells: 322 nCPM
hepatic stellate cells: 245 nCPM
fallopian tube ciliated cells: 218 nCPM

Immune cell

basophil: 8.9 nTPM
neutrophil: 1.4 nTPM
eosinophil: 0.5 nTPM
naive B-cell: 0.4 nTPM
NK-cell: 0.4 nTPM
classical monocyte: 0.2 nTPM

Brain region

hippocampal formation: 11 nTPM
thalamus: 7.8 nTPM
basal ganglia: 6.9 nTPM
cerebellum: 6.7 nTPM
cerebral cortex: 6.7 nTPM
amygdala: 6.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCBE1.

Disease | AllUniProt

Conditions CCBE1 is implicated in, by any mechanism.

Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) MIM:235510

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 564 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hennekam lymphangiectasia-lymphedema syndrome 1

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): 1.01
gnomAD pLI: 0
gnomAD missense Z: -0.69
DepMap mean gene effect: 0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCBE1 as an antibody target. Whether an autoantibody or antibody against CCBE1 could matter depends on whether native CCBE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCBE1 is annotated as secreted, so native CCBE1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label CCBE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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