InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CCBE1

Summary

InnateDB Protein

IDBP-371460.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CCBE1

Protein Name

collagen and calcium binding EGF domains 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000404464

InnateDB Gene

IDBG-4117 (CCBE1)

Protein Structure

UniProt Annotation

Function

Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. {ECO:0000269PubMed:19935664}.

Subcellular Localization

Secreted {ECO:0000305}.

Disease Associations

Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]: A generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. {ECO:0000269PubMed:19911200, ECO:0000269PubMed:19935664}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Not expressed in blood or lymphatic endothelial cells. {ECO:0000269PubMed:19287381}.

Comments

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