Homo sapiens Gene: CCBE1
Summary
InnateDB Gene IDBG-4117.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCBE1
Gene Name collagen and calcium binding EGF domains 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000183287
Encoded Proteins
collagen and calcium binding EGF domains 1
collagen and calcium binding EGF domains 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:59430940-59697380
Strand Reverse strand
Band q21.32
Transcripts
ENST00000398179 ENSP00000381241
ENST00000439986 ENSP00000404464
ENST00000589116
ENST00000589419 ENSP00000467710
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005518 collagen binding
Biological Process
GO:0001946 lymphangiogenesis
GO:0002040 sprouting angiogenesis
GO:0010575 positive regulation vascular endothelial growth factor production
GO:0010595 positive regulation of endothelial cell migration
GO:0010954 positive regulation of protein processing
GO:0045766 positive regulation of angiogenesis
GO:0048845 venous blood vessel morphogenesis
GO:1900748 positive regulation of vascular endothelial growth factor signaling pathway
GO:1901492 positive regulation of lymphangiogenesis
Cellular Component
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.34333
RefSeq NM_133459 XM_005266648 XM_005266649 XM_006722393
HUGO
OMIM
CCDS CCDS32838
HPRD 08703
IMGT
EMBL
GenPept
RNA Seq Atlas