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Aliases for COL18A1 Gene

Aliases for COL18A1 Gene

  • Collagen, Type XVIII, Alpha 1 2 3
  • Endostatin 2 3
  • KNO1 3 6
  • Collagen Alpha-1(XVIII) Chain 3
  • Multi-Functional Protein MFP 3
  • Knobloch Syndrome, Type 1 2
  • Antiangiogenic Agent 3
  • KNO 3
  • KS 3

External Ids for COL18A1 Gene

Previous HGNC Symbols for COL18A1 Gene

  • KNO

Previous GeneCards Identifiers for COL18A1 Gene

  • GC21P043334
  • GC21P045681
  • GC21P045649
  • GC21P046825
  • GC21P032201

Summaries for COL18A1 Gene

Entrez Gene Summary for COL18A1 Gene

  • 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]

GeneCards Summary for COL18A1 Gene

COL18A1 (Collagen, Type XVIII, Alpha 1) is a Protein Coding gene. Diseases associated with COL18A1 include knobloch syndrome, type 1 and knobloch syndrome. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is COL15A1.

UniProtKB/Swiss-Prot for COL18A1 Gene

  • 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

Gene Wiki entry for COL18A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL18A1 Gene

Genomics for COL18A1 Gene

Regulatory Elements for COL18A1 Gene

Genomic Location for COL18A1 Gene

Start:
45,405,137 bp from pter
End:
45,513,720 bp from pter
Size:
108,584 bases
Orientation:
Plus strand

Genomic View for COL18A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL18A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL18A1 Gene

Proteins for COL18A1 Gene

  • Protein details for COL18A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P39060-COIA1_HUMAN
    Recommended name:
    Collagen alpha-1(XVIII) chain
    Protein Accession:
    P39060
    Secondary Accessions:
    • A8MVI4
    • Q58EX6
    • Q6RZ39
    • Q6RZ40
    • Q6RZ41
    • Q8N4S4
    • Q8WXI5
    • Q96T70
    • Q9UK38
    • Q9Y6Q7
    • Q9Y6Q8

    Protein attributes for COL18A1 Gene

    Size:
    1754 amino acids
    Molecular mass:
    178188 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for COL18A1 Gene

    Alternative splice isoforms for COL18A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL18A1 Gene

Proteomics data for COL18A1 Gene at MOPED

Post-translational modifications for COL18A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated
  • Glycosylation at Asn68, Asn129, Asn164, Asn691, Thr1292, Ser1304, and Thr1332
  • Modification sites at PhosphoSitePlus

Other Protein References for COL18A1 Gene

No data available for DME Specific Peptides for COL18A1 Gene

Domains for COL18A1 Gene

Gene Families for COL18A1 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P39060

UniProtKB/Swiss-Prot:

COIA1_HUMAN :
  • P39060
Domain:
  • Contains 1 FZ (frizzled) domain.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the multiplexin collagen family.
genes like me logo Genes that share domains with COL18A1: view

Function for COL18A1 Gene

Molecular function for COL18A1 Gene

GENATLAS Biochemistry: collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain
UniProtKB/Swiss-Prot Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube
UniProtKB/Swiss-Prot Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling

Gene Ontology (GO) - Molecular Function for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 17615292
GO:0042802 identical protein binding IPI 16269408
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL18A1: view
genes like me logo Genes that share phenotypes with COL18A1: view

Animal Models for COL18A1 Gene

MGI Knock Outs for COL18A1:

miRNA for COL18A1 Gene

miRTarBase miRNAs that target COL18A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL18A1 Gene

Localization for COL18A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL18A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL18A1 Gene COMPARTMENTS Subcellular localization image for COL18A1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
plasma membrane 3
cytoskeleton 1
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 20551380
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL18A1: view

Pathways for COL18A1 Gene

genes like me logo Genes that share pathways with COL18A1: view

Gene Ontology (GO) - Biological Process for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001886 endothelial cell morphogenesis IEA --
GO:0007155 cell adhesion IEA --
GO:0007601 visual perception TAS 10942434
GO:0008284 positive regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with COL18A1: view

Transcripts for COL18A1 Gene

Unigene Clusters for COL18A1 Gene

Collagen, type XVIII, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL18A1 Gene

No ASD Table

Relevant External Links for COL18A1 Gene

GeneLoc Exon Structure for
COL18A1
ECgene alternative splicing isoforms for
COL18A1

Expression for COL18A1 Gene

mRNA expression in normal human tissues for COL18A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL18A1 Gene

This gene is overexpressed in Artery - Tibial (5.0), Artery - Coronary (4.6), and Liver (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL18A1 Gene

SOURCE GeneReport for Unigene cluster for COL18A1 Gene Hs.517356

mRNA Expression by UniProt/SwissProt for COL18A1 Gene

P39060-COIA1_HUMAN
Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney
genes like me logo Genes that share expressions with COL18A1: view

Orthologs for COL18A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL18A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL18A1 35
  • 97.45 (n)
  • 97.53 (a)
COL18A1 36
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL18A1 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL18A1 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col18a1 35
  • 75.59 (n)
  • 75.49 (a)
Col18a1 16
Col18a1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL18A1 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col18a1 35
  • 77.36 (n)
  • 78.94 (a)
chicken
(Gallus gallus)
Aves COL18A1 35
  • 67.21 (n)
  • 68.86 (a)
COL18A1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL18A1 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col18a1 35
  • 59.25 (n)
  • 63.48 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
col18a1 36
  • 39 (a)
OneToMany
COL18A1 (2 of 2) 36
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mp 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cle-1 36
  • 19 (a)
OneToMany
cle-1 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for COL18A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL18A1 Gene

ENSEMBL:
Gene Tree for COL18A1 (if available)
TreeFam:
Gene Tree for COL18A1 (if available)

Paralogs for COL18A1 Gene

Paralogs for COL18A1 Gene

Selected SIMAP similar genes for COL18A1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with COL18A1: view

Variants for COL18A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for COL18A1 Gene

P39060-COIA1_HUMAN
There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals

Sequence variations from dbSNP and Humsavar for COL18A1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs7499 -- 45,512,414(+) GATGC(A/G)GATGG utr-variant-3-prime
rs7867 -- 45,512,738(+) GGGAA(A/G)CCGTG utr-variant-3-prime
rs8199 -- 45,512,469(+) GGAGC(A/G)GCCGG utr-variant-3-prime
rs731537 -- 45,450,644(-) GTCTC(C/T)GCCCT intron-variant
rs749625 -- 45,493,386(+) CTCCC(A/G)TGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL18A1 Gene

Variant ID Type Subtype PubMed ID
dgv4785n71 CNV Loss 21882294
nsv914009 CNV Loss 21882294
dgv4788n71 CNV Loss 21882294
dgv537n27 CNV Gain 19166990
nsv470909 CNV Gain 18288195
nsv520123 CNV Gain 19592680
nsv914027 CNV Loss 21882294
nsv914029 CNV Loss 21882294
nsv914030 CNV Loss 21882294
dgv4791n71 CNV Loss 21882294
dgv4792n71 CNV Loss 21882294
dgv4793n71 CNV Loss 21882294
dgv4794n71 CNV Loss 21882294
nsv516407 CNV Loss 19592680
esv1007573 CNV Insertion 20482838
nsv914048 CNV Loss 21882294
nsv834111 CNV Loss 17160897
dgv4795n71 CNV Loss 21882294
esv990822 CNV Insertion 20482838
esv2570683 CNV Deletion 19546169
esv2723751 CNV Deletion 23290073
esv2723752 CNV Deletion 23290073
esv2723753 CNV Deletion 23290073
esv2667462 CNV Deletion 23128226
esv2723754 CNV Deletion 23290073
esv6137 CNV Loss 19470904
esv2723755 CNV Deletion 23290073
esv2723756 CNV Deletion 23290073
esv2723757 CNV Deletion 23290073
dgv4796n71 CNV Loss 21882294
dgv763e201 CNV Deletion 23290073
esv2723760 CNV Deletion 23290073
esv2723762 CNV Deletion 23290073
dgv538n27 CNV Loss 19166990
dgv4797n71 CNV Loss 21882294
dgv4798n71 CNV Loss 21882294
nsv914060 CNV Loss 21882294
esv2723763 CNV Deletion 23290073
esv1007584 CNV Insertion 20482838
esv1278020 CNV Insertion 17803354
nsv914061 CNV Gain 21882294
dgv4799n71 CNV Loss 21882294
esv2723764 CNV Deletion 23290073
esv2660971 CNV Deletion 23128226
esv2723765 CNV Deletion 23290073
dgv764e201 CNV Deletion 23290073
esv2723767 CNV Deletion 23290073
dgv4800n71 CNV Loss 21882294
nsv914066 CNV Gain 21882294
nsv459308 CNV Loss 19166990
dgv4801n71 CNV Loss 21882294
esv2438585 CNV Insertion 19546169
esv2723769 CNV Deletion 23290073
esv2723770 CNV Deletion 23290073
esv2723771 CNV Deletion 23290073
esv2723773 CNV Deletion 23290073
esv2664467 CNV Deletion 23128226
esv2723774 CNV Deletion 23290073
esv2723775 CNV Deletion 23290073
esv2723776 CNV Deletion 23290073
nsv834112 CNV Gain 17160897
nsv914071 CNV Loss 21882294
dgv4802n71 CNV Loss 21882294
dgv765e201 CNV Deletion 23290073
esv2723778 CNV Deletion 23290073
dgv4803n71 CNV Loss 21882294
esv2723780 CNV Deletion 23290073
esv2723781 CNV Deletion 23290073
esv2723782 CNV Deletion 23290073
nsv187181 CNV Loss 16902084
esv2723784 CNV Deletion 23290073
esv2723785 CNV Deletion 23290073
esv2723786 CNV Deletion 23290073
esv2723787 CNV Deletion 23290073

Relevant External Links for COL18A1 Gene

HapMap Linkage Disequilibrium report
COL18A1
Human Gene Mutation Database (HGMD)
COL18A1

Disorders for COL18A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (7) Diseases for COL18A1 Gene including...

Search for COL18A1 Gene in MalaCards »

(1) OMIM Diseases for COL18A1 Gene (120328)

UniProtKB/Swiss-Prot

COIA1_HUMAN
  • 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:0000269 PubMed:10942434, ECO:0000269 PubMed:23667181}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for COL18A1 Gene

(3) Novoseek inferred disease relationships for COL18A1 Gene

Disease -log(P) Hits PubMed IDs
knobloch syndrome 98.5 6
occipital encephalocele 81.6 1
tumors 0 1

Relevant External Links for COL18A1

Genetic Association Database (GAD)
COL18A1
Human Genome Epidemiology (HuGE) Navigator
COL18A1
Tumor Gene Database (TGDB):
COL18A1
genes like me logo Genes that share disorders with COL18A1: view

Publications for COL18A1 Gene

  1. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. (PMID: 8188291) Oh S.P. … Olsen B.R. (Genomics 1994) 2 3 4 23
  2. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure. (PMID: 10942434) Sertie A.L. … Passos-Bueno M.R. (Hum. Mol. Genet. 2000) 2 3 4 23
  3. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (PMID: 14695535) Menzel O. … Guipponi M. (Hum. Mutat. 2004) 3 4 23
  4. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. (PMID: 16807676) LourenAso G.J. … Lima C.S. (Breast Cancer Res. Treat. 2006) 3 23 48
  5. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PMID: 17546652) Keren B. … Verloes A. (Am. J. Med. Genet. A 2007) 2 3 23

Products for COL18A1 Gene

Sources for COL18A1 Gene

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