• Gene id: 147372

Gene Summary

• Gene Symbol: CCBE1   Gene   UCSC   Ensembl
• Aliases: HKLLS1
• Gene name: collagen and calcium binding EGF domains 1
• Alternate names: collagen and calcium-binding EGF domain-containing protein 1, full of fluid protein homolog,
• Gene location: 18q21.32 (67192154: 67198917)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 612753

Protein Summary

• Protein general information: Q6UXH8  
  • Name: Collagen and calcium binding EGF domain containing protein 1 (Full of fluid protein homolog)
  • Length: 406  
  • Mass: 44103
  • Tissue specificity: Not expressed in blood or lymphatic endothelial cells. {ECO
• Sequence:

  MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCYRKKCC
  KGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECASSNGTLCAHIC
  INTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNN
  AADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQG
  RRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHRTHSSAEEFPLPQEFP
  SYPEAMDLGSGDDHPRRTETRDLRAPRDFYP

• Structural information:
  • Protein Domains: (134..17-)
    (/note="EGF-lik-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (245..29-)
    (/note="Collagen-like-1)
    (300..33-)
    (/note="Collagen-like-2")
  • Interpro: IPR008160  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  
  • Prosite: PS00010 PS01186 PS50026 PS01187
  • STRING: ENSP00000404464
• Other Databases: GeneCards:  CCBE1  Malacards:  CCBE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048845	venous blood vessel morphogenesis	ISS	biological process
GO:0002040	sprouting angiogenesis	ISS	biological process
GO:0001946	lymphangiogenesis	IMP	biological process
GO:0001946	lymphangiogenesis	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0005518	collagen binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001946	lymphangiogenesis	IEA	biological process
GO:0003016	respiratory system process	IEA	biological process
GO:0010595	positive regulation of endothelial cell migration	IEA	biological process
GO:1901492	positive regulation of lymphangiogenesis	IEA	biological process
GO:0001945	lymph vessel development	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0010954	positive regulation of protein processing	IDA	biological process
GO:1900748	positive regulation of vascular endothelial growth factor signaling pathway	IDA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Hennekam lymphangiectasia-lymphedema syndrome	KEGG:H02169
Hennekam lymphangiectasia-lymphedema syndrome	KEGG:H02169
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)