| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. FUNCTION: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative promoter usage, Alternative splicing; Named isoforms=3; Name=1; Synonyms=NC1-728; IsoId=P39060-3; Sequence=Displayed; Note=Produced by alternative promoter usage; Name=2; Synonyms=Long, NC-493; IsoId=P39060-1; Sequence=VSP_023131; Note=Produced by alternative splicing of isoform 1; Name=3; Synonyms=Short, NC1-303; IsoId=P39060-2; Sequence=VSP_023130, VSP_023132; Note=Produced by alternative promoter usage; TISSUE SPECIFICITY: Present in multiple organs with highest levels in liver, lung and kidney. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. POLYMORPHISM: 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. DISEASE: Defects in COL18A1 are a cause of Knobloch syndrome type 1 (KNO1) [MIM:267750]. An autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. SIMILARITY: Belongs to the multiplexin collagen family. SIMILARITY: Contains 1 FZ (frizzled) domain. SIMILARITY: Contains 1 laminin G-like domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL18A1"; GENE SYNONYMS:COL18A1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1754 AA; 178188 MW; 23A327DCBD3B328D CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:2195,
urn:biopax:RelationshipXref:NCBI GENE_80781,
urn:biopax:RelationshipXref:REFSEQ_NP_085059,
urn:biopax:RelationshipXref:REFSEQ_NP_569712,
urn:biopax:UnificationXref:UNIPROT_A8MVI4,
urn:biopax:UnificationXref:UNIPROT_P39060,
urn:biopax:UnificationXref:UNIPROT_Q58EX6,
urn:biopax:UnificationXref:UNIPROT_Q6RZ39,
urn:biopax:UnificationXref:UNIPROT_Q6RZ40,
urn:biopax:UnificationXref:UNIPROT_Q6RZ41,
urn:biopax:UnificationXref:UNIPROT_Q8N4S4,
urn:biopax:UnificationXref:UNIPROT_Q8WXI5,
urn:biopax:UnificationXref:UNIPROT_Q96T70,
urn:biopax:UnificationXref:UNIPROT_Q9UK38,
urn:biopax:UnificationXref:UNIPROT_Q9Y6Q7,
urn:biopax:UnificationXref:UNIPROT_Q9Y6Q8
|
| biopax3:displayName |
COIA1_HUMAN
|
| biopax3:name |
COL18A1,
Endostatin
|
| biopax3:organism | |
| biopax3:sequence |
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGAHTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQGLSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRDSGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHHESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACWSRLGGGRLPVACASLPTQEDGYCVLIGPAAERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTVASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDGSVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVLCIENSFMTASK
|
| biopax3:standardName |
Collagen alpha-1(XVIII) chain
|