CCBE1

Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.^[5][6]

CCBE1
Identifiers
Aliases	CCBE1, HKLLS1, collagen and calcium binding EGF domains 1
External IDs	OMIM: 612753; MGI: 2445053; HomoloGene: 15852; GeneCards: CCBE1; OMA:CCBE1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q21.32 Start 59,430,939 bp[1] End 59,697,662 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E1 Start 66,178,373 bp[2] End 66,435,812 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte lower lobe of lung buccal mucosa cell muscle layer of sigmoid colon left ovary right lung left adrenal gland left adrenal cortex germinal epithelium stromal cell of endometrium Top expressed in pericardium pericardial cavity endothelial cell of lymphatic vessel anterior cardinal vein septum transversum epithelium of lens prostate retinal pigment epithelium lumbar subsegment of spinal cord lobe of prostate More reference expression data BioGPS n/a
Gene ontology Molecular function protease binding calcium ion binding protein binding collagen binding Cellular component extracellular region collagen extracellular space extracellular matrix Biological process positive regulation of endothelial cell migration multicellular organism development positive regulation of vascular endothelial growth factor production sprouting angiogenesis positive regulation of lymphangiogenesis positive regulation of protein processing angiogenesis positive regulation of vascular endothelial growth factor signaling pathway venous blood vessel morphogenesis lymphangiogenesis positive regulation of angiogenesis lymph vessel development lung development respiratory gaseous exchange by respiratory system respiratory system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 147372 320924 Ensembl ENSG00000183287 ENSMUSG00000046318 UniProt Q6UXH8 Q3MI99 RefSeq (mRNA) NM_133459 NM_178793 RefSeq (protein) NP_597716 NP_848908 Location (UCSC) Chr 18: 59.43 – 59.7 Mb Chr 18: 66.18 – 66.44 Mb PubMed search [3] [4]
Wikidata
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Function

CCBE1 is a regulator of the development and growth of the lymphatic system. CCBE1 is necessary for the proteolytic activation of VEGF-C by ADAMTS3,^[7] which is the main growth factor for the lymphatic system.^[8]

Clinical significance

Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene,^[9] and the molecular etiology of the disease has been elucidated.^[7]