CCBE1

GENERAL INFORMATION

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Gene name

CCBE1

Gene description

Collagen and calcium binding EGF domains 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (ovary)
GTEx:Tissue enhanced (ovary)

Protein evidence

Evidence at protein level

Protein localization

High expression in the luminal membranes of duodenum, small intestine, gall bladder and renal tubules. Extracellular staining in prostate.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA041361 , HPA041374
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (ovary)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (ovary)

Organ

Expression



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)

59430940 - 59697380

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183287 (version 78.38)

Entrez gene

147372

UniProt

Q6UXH8 (UniProt - Evidence at protein level)

neXtProt

NX_Q6UXH8

Antibodypedia

CCBE1 antibodies


PROTEIN BROWSER

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ENST00000398179
 
ENST00000439986
 
ENST00000589419
 
 
 
 


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 »
Show » 46 5.1 No 0
CCBE1-201 ENSP00000381241
ENST00000398179
K7EQ81
Show all »
Show » Show » 336 36.5 No 0