• Gene id: 80781

Gene Summary

• Gene Symbol: COL18A1   Gene   UCSC   Ensembl
• Aliases: GLCC, 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 (45405164: 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 th
• OMIM: 134820

Protein Summary

• Protein general information: P39060  
  • Name: Collagen alpha 1(XVIII) chain [Cleaved into: Endostatin; Non collagenous domain 1 (NC1)]
  • Length: 1754  
  • Mass: 178188
  • 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: (329..44-)
    (/note="FZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00090-)
    (456..64-)
    (/note="Laminin-G-like")
  • Interpro: IPR016186  IPR008160  IPR035523  IPR010515  IPR013320   IPR016187  IPR010363  IPR020067  IPR036790  IPR001791  
  • Prosite: PS50038
  • CDD: cd07455 cd00247
  • PDB: 1BNL 3HON 3HSH
  • PDBsum: 1BNL 3HON 3HSH
  • STRING: ENSP00000347665
• Other Databases: GeneCards:  COL18A1  Malacards:  COL18A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IBA	biological process
GO:0001886	endothelial cell morphogenesis	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005581	collagen trimer	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0051599	response to hydrostatic pressure	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0001886	endothelial cell morphogenesis	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:2000353	positive regulation of endothelial cell apoptotic process	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	TAS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Vitreoretinal degeneration	KEGG:H00805
Knobloch syndrome	KEGG:H02074
Vitreoretinal degeneration	KEGG:H00805
Knobloch syndrome	KEGG:H02074
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq