Entity Details

Primary name CCBE1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6UXH8
EntryNameCCBE1_HUMAN
FullNameCollagen and calcium-binding EGF domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length406
SequenceStatuscomplete
DateCreated2007-03-06
DateModified2021-06-02

Ontological Relatives

GenesCCBE1

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

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000742 EGF-like domainDomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site

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.