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
collagen, type XVIII, alpha 1
collagen, type XVIII, alpha 1
collagen, type XVIII, alpha 1
collagen, type XVIII, alpha 1
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Activation of Matrix Metalloproteinases pathway
Integrin cell surface interactions pathway
Laminin interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
KEGG
Protein digestion and absorption pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Validated nuclear estrogen receptor alpha network
Direct p53 effectors
FOXA1 transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 80781
UniGene Hs.517356
RefSeq NM_130445 NM_030582
HUGO HGNC:2195
OMIM 120328
CCDS CCDS42971 CCDS42972
HPRD 00382
IMGT
EMBL
GenPept
RNA Seq Atlas 80781