Entity Details

Primary name CCBE1
Entity type gene
Source Source Link

Details

PrimaryID147372
RefseqGeneNG_016990
SymbolCCBE1
Namecollagen and calcium binding EGF domains 1
Chromosome18
Location18q21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCCBE1_HUMAN

GO terms

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GOName
GO:0001946 lymphangiogenesis
GO:0002020 protease binding
GO:0002040 sprouting angiogenesis
GO:0003016 respiratory system process
GO:0005509 calcium ion binding
GO:0005518 collagen binding
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0010595 positive regulation of endothelial cell migration
GO:0010954 positive regulation of protein processing
GO:0030324 lung development
GO:0031012 extracellular matrix
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

Diseases

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Disease IDSourceNameDescription
235510 OMIMHennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1)A form of Hennekam lymphangiectasia-lymphedema syndrome, 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 some manifest mental retardation. HKLLS1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

13 interactions

InteractorPartnerSourcesPublicationsLink
CCBE1SIAH2BioGRID, IntAct21988832 details
CCBE1TOX4BioGRID, IntAct21988832 details
CCBE1CEP55BioGRID, IntAct25416956 32296183 details
CCBE1STX11BioGRID, IntAct25416956 details
CCBE1KLHL12BioGRID, IntAct25416956 32296183 details
CCBE1LNX1BioGRID, IntAct32296183 details
CCBE1KRT27BioGRID, IntAct32296183 details
CCBE1KRT36BioGRID, IntAct32296183 details
CCBE1COPS6BioGRID, IntAct32296183 details
CCBE1INCA1BioGRID, IntAct32296183 details
CCBE1FBXO7BioGRID27503909 details
CCBE1FXR1MINT21653829 details
CCBE1H2BC5BioGRID, IntAct30021884 details