CCBE1

GENE INFORMATION

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Gene name

CCBE1 (HGNC Symbol)

Synonyms

FLJ30681, KIAA1983

Description

Collagen and calcium binding EGF domains 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

18

Cytoband

q21.32

Chromosome location (bp)

57098172 - 57364612

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183287 (version 75.37)

Entrez gene

147372

UniProt

Q6UXH8 (UniProt - Evidence at protein level)

neXtProt

NX_Q6UXH8

Antibodypedia

CCBE1 antibodies
 

PROTEIN VIEW

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CCBE1-001
 
CCBE1-004
 
CCBE1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CCBE1-001 ENSP00000404464
ENST00000439986
Q6UXH8
Show all »
Show » Show » 406 44.1 Yes 0
CCBE1-004 ENSP00000467710
ENST00000589419
K7EQ81
Show all »
46 5.1 No 0
CCBE1-201 ENSP00000381241
ENST00000398179
Q6UXH8
Show all »
Show » Show » 135 14.8 Yes 0