Tbio COL18A1 Collagen alpha-1(XVIII) chain

Protein Summary

Description

Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. Non-collagenous domain 1: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling. Endostatin: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123). This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Uniprot Accession IDs

• P39060
• A8MVI4
• Q58EX6
• Q6RZ39
• Q6RZ40
• Q6RZ41
• Q8N4S4
• Q8WXI5
• Q96T70
• Q9UK38
• Q9Y6Q7
• Q9Y6Q8

Gene Name

• COL18A1

Ensembl ID

• ENST00000355480
• ENSP00000347665
• ENSG00000182871
• ENST00000359759
• ENSP00000352798
• ENST00000400337
• ENSP00000383191

Symbol

• KS
• KNO
• KNO1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.99
transcription factor perturbation	0.98
PubMedID	0.97
disease perturbation	0.95
biological term	0.89

Protein Classes

No PANTHER Classes or DTO Classes found

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: 1416   (req: < 5)

Gene RIFs: 132   (req: <= 3)

Antibodies: 545   (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: 1416   (req: >= 5)

Gene RIFs: 132   (req: > 3)

Antibodies: 545   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16

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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (188)

Explore Interacting Targets

1 – 10 of 188

• See Interactions on String-DB

PLOD1

Tbio

Family:  Enzyme

Novelty:  0.00905345

p_int:  0.999981676

p_ni:  0.000018324

Score:  0.921

Data Source:  BioPlex,STRINGDB

LAIR2

Tbio

Novelty:  0.06117644

p_int:  0.999943005

p_ni:  0.000056995

Data Source:  BioPlex

MMP2

Tchem

Family:  Enzyme

Novelty:  0.00012762

p_int:  0.999641796

p_ni:  0.000358203

Score:  0.985

Data Source:  BioPlex,STRINGDB

PLOD3

Tbio

Family:  Enzyme

Novelty:  0.02211629

p_int:  0.999048948

p_ni:  0.000951052

Score:  0.905

Data Source:  BioPlex,STRINGDB

SIAE

Tbio

Family:  Enzyme

Novelty:  0.01138067

p_int:  0.997863846

p_ni:  0.002136154

Data Source:  BioPlex

P4HA1

Tchem

Family:  Enzyme

Novelty:  0.01624726

p_int:  0.997730211

p_ni:  0.002269789

Score:  0.905

Data Source:  BioPlex,STRINGDB

CRP

Tbio

Novelty:  0.00001517

p_int:  0.996888559

p_ni:  0.003111424

p_wrong:  1.6e-8

Score:  0.309

Data Source:  BioPlex,STRINGDB

MMP9

Tchem

Family:  Enzyme

Novelty:  0.00008645

p_int:  0.996309126

p_ni:  0.003690874

Score:  0.964

Data Source:  BioPlex,STRINGDB

DEFA1

Tbio

Novelty:  0.01027492

p_int:  0.994468823

p_ni:  0.005531176

Score:  0.18

Data Source:  BioPlex,STRINGDB

SFTPA2

Tbio

Novelty:  0.00283745

p_int:  0.958235906

p_ni:  0.041764094

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (16)

Reactome (10)

KEGG (1)

PathwayCommons (5)

Activation of Matrix Metalloproteinases (R-HSA-1592389)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Activation of Matrix Metalloproteinases	33 targets	R-HSA-1592389
Reactome	Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Reactome	Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Reactome	Collagen chain trimerization	44 targets	R-HSA-8948216
Reactome	Collagen degradation	40 targets	R-HSA-1442490

Name	Explore in Pharos	Explore in Source
Activation of Matrix Metalloproteinases	33 targets	R-HSA-1592389
Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Collagen chain trimerization	44 targets	R-HSA-8948216
Collagen degradation	40 targets	R-HSA-1442490

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (24)

Functions (4)

Components (8)

Processes (12)

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1 – 4 of 4

GO Term	Evidence	Assigned by
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
extracellular matrix structural constituent conferring tensile strength	Inferred from High Throughput Direct Assay (HDA)	BHF-UCL
extracellular matrix structural constituent	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (11)

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1 – 5 of 11

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
triglyceride measurement	EFO_0004530	2	1	3		78.9
BMI-adjusted waist-hip ratio	EFO_0007788	2	4	4		77.1
waist-hip ratio	EFO_0004343	1	3	3		72.5
apolipoprotein A 1 measurement	EFO_0004614	2	2	2		71.4
waist circumference	EFO_0004342	1	2	2		51.7

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5

1 – 5 of 11

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
triglyceride measurement	EFO_0004530	3		78.9
BMI-adjusted waist-hip ratio	EFO_0007788	4		77.1
waist-hip ratio	EFO_0004343	3		72.5
apolipoprotein A 1 measurement	EFO_0004614	2		71.4
waist circumference	EFO_0004342	2		51.7

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative promoter usage
Alternative splicing
Basement membrane
Cell adhesion
Collagen
Complete proteome
Disulfide bond
Extracellular matrix
Glycoprotein

GWAS Trait Find Similar Targets

No Header	No Header
apolipoprotein A 1 measurement
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
creatinine measurement
exercise test
glomerular filtration rate
high density lipoprotein cholesterol measurement
total cholesterol measurement
triglyceride measurement
waist circumference

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
homeostasis/metabolism phenotype
nervous system phenotype
pigmentation phenotype
renal/urinary system phenotype
skeleton phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	collagen type XVIII alpha 1 chain	VGNC:10689	474050
Mouse	collagen, type XVIII, alpha 1	MGI:88451	12822
Rat	collagen type XVIII alpha 1 chain	RGD:70936	85251
Dog	collagen type XVIII alpha 1 chain	VGNC:49781	100687767
Horse	collagen type XVIII alpha 1 chain	VGNC:16728	100055712

Species	Name	OMA	EggNOG	Inparanoid
Chimp	collagen type XVIII alpha 1 chain
Mouse	collagen, type XVIII, alpha 1
Rat	collagen type XVIII alpha 1 chain
Dog	collagen type XVIII alpha 1 chain
Horse	collagen type XVIII alpha 1 chain

Publication Statistics

PubMed Score 1416.00

PubMed score by year

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PubTator Score 854.02

PubTator score by year

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Related Publications

Text Mined References (197)

GeneRif Annotations (132)

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PMID	Year	Title