InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL18A1

Summary

InnateDB Protein

IDBP-228453.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL18A1

Protein Name

collagen, type XVIII, alpha 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000383191

InnateDB Gene

IDBG-5845 (COL18A1)

Protein Structure

UniProt Annotation

Function

COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Knobloch syndrome 1 (KNO1) [MIM:267750]: A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. {ECO:0000269PubMed:10942434, ECO:0000269PubMed:23667181}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Present in multiple organs with highest levels in liver, lung and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0046872	metal ion binding

Biological Process

GO:0007155	cell adhesion
GO:0007601	visual perception
GO:0008285	negative regulation of cell proliferation
GO:0009887	organ morphogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001791 Laminin G domain
IPR008160 Collagen triple helix repeat
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR010515 Collagenase NC10/endostatin
IPR016187 C-type lectin fold

PFAM

PF00054
PF02210
PF01391
PF06482

PRINTS

PIRSF

SMART

SM00210
SM00282

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P39060