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Tbio
CCBE1
Collagen and calcium-binding EGF domain-containing protein 1

Protein Classes
Protein Summary
Description
Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. 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 this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000439986
  • ENSP00000404464
  • ENSG00000183287
  • ENST00000649564
  • ENSP00000497183

Symbol
  • KIAA1983
  • HKLLS1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
trait
0.97
protein domain
0.85
microRNA
0.76
transcription factor perturbation
0.68
histone modification site profile
0.58


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 36.01   (req: < 5)
Gene RIFs: 16   (req: <= 3)
Antibodies: 179   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 36.01   (req: >= 5)
Gene RIFs: 16   (req: > 3)
Antibodies: 179   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
1
1
1
66.6
mean corpuscular hemoglobin concentration
1
1
1
64.5
viral load
1
1
1
58.2
HIV-1 infection
1
1
1
58.2
mean platelet volume
2
2
2
57.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
1
66.6
mean corpuscular hemoglobin concentration
1
64.5
viral load
1
58.2
HIV-1 infection
1
58.2
mean platelet volume
2
57.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
collagen and calcium binding EGF domains 1
VGNC:51949
455449
Macaque
collagen and calcium binding EGF domains 1
702222
Mouse
MGI:2445053
320924
Dog
collagen and calcium binding EGF domains 1
VGNC:38775
610092
Horse
collagen and calcium binding EGF domains 1
VGNC:50924
100050325
Species
Name
OMA
EggNOG
Inparanoid
Chimp
collagen and calcium binding EGF domains 1
Macaque
collagen and calcium binding EGF domains 1
Mouse
Dog
collagen and calcium binding EGF domains 1
Horse
collagen and calcium binding EGF domains 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q6UXH8-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (12)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
MGI
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (27)
1 – 10 of 27
VEGFC
Tbio
Novelty: 0.00077508
Score: 0.888
Data Source: STRINGDB
FLT4
Tclin
Family: Kinase
Novelty: 0.001296
Score: 0.829
Data Source: STRINGDB
SOX18
Tbio
Family: TF
Novelty: 0.01197289
Score: 0.68
Data Source: STRINGDB
ADAMTS3
Tbio
Family: Enzyme
Novelty: 0.00578975
Score: 0.658
Data Source: STRINGDB
PKD2L2
Tbio
Family: IC
Novelty: 0.12399184
Score: 0.617
Data Source: STRINGDB
GJC2
Tbio
Novelty: 0.01407784
Score: 0.613
Data Source: STRINGDB
PHF5A
Tbio
Family: Epigenetic
Novelty: 0.02989472
Score: 0.612
Data Source: STRINGDB
SNX29
Tdark
Novelty: 0.22265562
Score: 0.608
Data Source: STRINGDB
FAM43A
Tdark
Novelty: 1.17401589
Score: 0.607
Data Source: STRINGDB
VEGFD
Tbio
Novelty: 0.00233128
Score: 0.557
Data Source: STRINGDB
Publication Statistics
PubMed Score  36.01

PubMed score by year
PubTator Score  21.79

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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