Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 80781
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol COL18A1   Gene   UCSC   Ensembl
Aliases KNO, KNO1, KS
Gene name collagen type XVIII alpha 1 chain
Alternate names collagen alpha-1(XVIII) chain, antiangiogenic agent, collagen alpha-1(XVIII) chain isoform 1 preproprotein, collagen, type XVIII, alpha 1, endostatin, multi-functional protein MFP,
Gene location 21q22.3 (45405136: 45513719)     Exons: 43     NC_000021.9
Gene summary(Entrez) 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]
OMIM 120328

SNPs

 rs12483377

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000683.2   g.45511195G>A
NC_000021.8   g.46931109G>A
NC_000021.9   g.45511195G>A
NG_011903.1   g.111004G>A
NG_028278.2   g.56949C>T
NM_030582.3   c.4309G>A
NM_130444.2   c.5014G>A
NM_130445.2   c.3769G>A
NM_130445.3   c.3769G>A
NP_085059.2   p.Asp1437Asn
NP_569711.2   p.Asp1672Asn
NP_569712.2   p.Asp1257Asn
XP_005261235.1   p.Asp1441Asn
XP_005261236.1   p.Asp1429Asn
XP_005261237.1   p.Asp1408Asn
XP_005261238.1   p.Asp1261Asn
XP_005261239.1   p.Asp1253Asn
Clinical Significance: Pathogenic

Protein Summary
Protein general information P39060  

Name: Collagen alpha 1(XVIII) chain [Cleaved into: Endostatin]

Length: 1754  Mass: 178,188

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

Sequence MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPAT
APGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVG
PLALAGPSSTPQENGTTLWPSRGIPSSPGAHTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLG
GAPPWGSLQDPDSQGLSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRD
SGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHHESGEQVRAGARAWGG
LLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACWSRLGGGRLPVACASLPTQEDGYCVLIGPAA
ERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFA
ITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQR
MPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARE
LLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTVASLGAQTLPGSDSVSTWDGSVRTPGGRVKE
GGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDP
GEDGKPGDTGPQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRG
PRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGREGPPGRTGQKGSLGE
AGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGPFWSTARSADGPQGPP
GLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPG
PVVYVSEQDGSVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKG
EPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNV
FAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGS
SLPGPPGPPGPPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPG
PPGPPGPPGPPGTMGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDN
EVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHR
DFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRADRAAVPIVNLKDELL
FPSWEALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLG
GRLLGQSAASCHHAYIVLCIENSFMTASK
Structural information
Protein Domains
 FZ. (329-446)
Laminin (456-644)

Motifs
 Cell attachment(1330-1332)
Interpro:  IPR016186 IPR008160 IPR010515 IPR013320 IPR016187 IPR010363 IPR020067 IPR001791
Prosite:   PS50038

Pfam:  		 PF01391 PF06121 PF06482 PF01392
CDD:   cd00247

PDB:  		 1BNL 3HON 3HSH
PDBsum:   1BNL 3HON 3HSH
STRING:   ENSP00000347665;
Other Databases GeneCards:  COL18A1;  Malacards:  COL18A1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001525 angiogenesis
 IEA biological_process
GO:0001886 endothelial cell morphoge
nesis
 IEA biological_process
GO:0005198 structural molecule activ
ity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005581 collagen trimer
 IEA cellular_component
GO:0005604 basement membrane
 IEA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0007155 cell adhesion
 IEA biological_process
GO:0007601 visual perception
 TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
 IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
 TAS biological_process
GO:0009887 animal organ morphogenesi
s
 TAS biological_process
GO:0030198 extracellular matrix orga
nization
 TAS biological_process
GO:0030335 positive regulation of ce
ll migration
 IEA biological_process
GO:0030574 collagen catabolic proces
s
 TAS biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0042493 response to drug
 IEA biological_process
GO:0042802 identical protein binding
 IPI molecular_function
GO:0046872 metal ion binding
 IEA molecular_function
GO:0051599 response to hydrostatic p
ressure
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:2000353 positive regulation of en
dothelial cell apoptotic
process
 IEA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0031012 extracellular matrix
 TAS cellular_component
GO:0001525 angiogenesis
 IEA biological_process
GO:0001886 endothelial cell morphoge
nesis
 IEA biological_process
GO:0005198 structural molecule activ
ity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 IEA cellular_component
GO:0005581 collagen trimer
 IEA cellular_component
GO:0005581 collagen trimer
 TAS cellular_component
GO:0005604 basement membrane
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0007155 cell adhesion
 IEA biological_process
GO:0007155 cell adhesion
 IEA biological_process
GO:0007601 visual perception
 TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
 IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
 TAS biological_process
GO:0009887 animal organ morphogenesi
s
 TAS biological_process
GO:0030198 extracellular matrix orga
nization
 IEA biological_process
GO:0030198 extracellular matrix orga
nization
 TAS biological_process
GO:0030335 positive regulation of ce
ll migration
 IEA biological_process
GO:0030574 collagen catabolic proces
s
 TAS biological_process
GO:0031012 extracellular matrix
 IEA cellular_component
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0042493 response to drug
 IEA biological_process
GO:0042802 identical protein binding
 IPI molecular_function
GO:0046872 metal ion binding
 IEA molecular_function
GO:0051599 response to hydrostatic p
ressure
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:2000353 positive regulation of en
dothelial cell apoptotic
process
 IEA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0031012 extracellular matrix
 TAS cellular_component
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005581 collagen trimer
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0007601 visual perception
 TAS biological_process
GO:0008285 negative regulation of ce
ll proliferation
 TAS biological_process
GO:0009887 animal organ morphogenesi
s
 TAS biological_process
GO:0030198 extracellular matrix orga
nization
 TAS biological_process
GO:0030574 collagen catabolic proces
s
 TAS biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0042802 identical protein binding
 IPI molecular_function
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0031012 extracellular matrix
 TAS cellular_component

KEGG pathways

hsa04974  Protein digestion and absorption

Diseases

Associated diseases References
Atopy PMID: 19961619
Cancer PMID: 12479859
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Diabetes PMID: 18345385
Endometriosis PMID: 17482599
Knobloch syndrome OMIM: 120328
Polymicrogyria KEGG: H00271
Angiogenesis INFBASE14724102
Endometriosis INFBASE14724102
Vitreoretinal degeneration KEGG: H00805

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
14724102 Endometrio
sis
92 (50 women wi
th endometriosi
s (stage I-II26
cases and stag
e III-IV 24 cas
es), 42 women w
ithout endometr
iosis)
 IL-18
VEGF
 Show abstract