InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL18A1

Summary

InnateDB Gene

IDBG-5845.6

Last Modified

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

Gene Symbol

COL18A1

Gene Name

collagen, type XVIII, alpha 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000182871

Encoded Proteins

IDBP-5847

collagen, type XVIII, alpha 1

IDBP-5849

collagen, type XVIII, alpha 1

IDBP-5851

collagen, type XVIII, alpha 1

IDBP-228453

collagen, type XVIII, alpha 1

IDBP-371092

collagen, type XVIII, alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 21:45405137-45513720

Strand

Forward strand

Band

q22.3

Transcripts

ENST00000342220	ENSP00000339118
ENST00000355480	ENSP00000347665
ENST00000359759	ENSP00000352798
ENST00000400337	ENSP00000383191
ENST00000423214	ENSP00000415692
ENST00000459895
ENST00000473212

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:0001525	angiogenesis
GO:0001886	endothelial cell morphogenesis
GO:0007155	cell adhesion
GO:0007601	visual perception
GO:0008284	positive regulation of cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0009887	organ morphogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030335	positive regulation of cell migration
GO:0030574	collagen catabolic process
GO:0042493	response to drug
GO:0051599	response to hydrostatic pressure
GO:2000353	positive regulation of endothelial cell apoptotic process

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome