COL18A1

GENE INFORMATION

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Gene name

COL18A1 (HGNC Symbol)

Synonyms

KNO, KNO1, KS

Description

Collagen, type XVIII, alpha 1 (HGNC Symbol)

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. 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]

Chromosome

21

Cytoband

q22.3

Chromosome location (bp)

45405137 - 45513720

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182871 (version 78.38)

Entrez gene

80781

UniProt

P39060 (UniProt - Evidence at protein level)

neXtProt

NX_P39060

Antibodypedia

COL18A1 antibodies
 

PROTEIN VIEW

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COL18A1-001
 
COL18A1-002
 
COL18A1-003
 
COL18A1-005
 
COL18A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL18A1-001 ENSP00000347665
ENST00000355480
P39060
Show all »
Show » Show » 1519 154 Yes 0
COL18A1-002 ENSP00000383191
ENST00000400337
P39060
Show all »
Show » Show » 1339 135.8 Yes 0
COL18A1-003 ENSP00000339118
ENST00000342220
H7BXV5
Show all »
Show » Show » 687 70.7 No 0
COL18A1-005 ENSP00000415692
ENST00000423214
Show » Show » 280 30.9 No 0
COL18A1-201 ENSP00000352798
ENST00000359759
P39060
Show all »
Show » Show » 1754 178.2 Yes 0