COL18A1 Gene
protein-coding GIFtS : 68
GCID: GC21 P046825
collagen, type XVIII, alpha 1 (Previous names: Knobloch syndrome, type 1 ) (Previous symbol: KNO )
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Aliasesfor COL18A1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
10 fRNAdb , and/or 11 Nature :405,311-319 and CroW21)About This Section Aliases Collagen, Type XVIII, Alpha 1 1 2 Human Type XVIII Collagen11 KNO11 2 5 Antiangiogenic Agent2 KNO1 2 Collagen Alpha-1(XVIII) Chain2 KS1 2 Endostatin1 Knobloch Syndrome, Type 11 Multi-Functional Protein MFP2
Export aliases for COL18A1 gene to outside databases Previous GC identifers: GC21P043334 GC21P045681 GC21P045649 GC21P032201
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Summariesfor COL18A1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for COL18A1 : 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. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2008) UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Function : COLA18A probably plays a major role in determining the retinal structure as well as in the closure of theneural tube Function : Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis bybinding to the heparan sulfate proteoglycans involved in growth factor signaling Gene Wiki entry for COL18A1 (Collagen, type XVIII, alpha 1)
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Genomic Viewsfor COL18A1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics , Whole Chromsome Sequence According to
Nature (Cited Here with Permission) :405,311-319 and CroW21)About This Section
GC21P046825:
GeneLoc
Nature :405,311-319
Start:
46,825,052 bp from pter
32,384,934 bp from centromere
End:
46,933,634 bp from pter
32,443,158 bp from centromere
Size:
108,583 bases
58,225 bases
Orientation:
plus strand
plus strand
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Proteinsfor COL18A1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 (See
protein sequence )Recommended Name: Collagen alpha-1(XVIII) chain precursor Size : 1754 amino acids; 178188 Da
Subcellular location : Secreted, extracellular space, extracellular matrix (By similarity)
3 PDB 3D structures from and Proteopedia for COL18A1 :1BNL (3D)
  3HON (3D)
  3HSH (3D)
 
Secondary accessions : A8MVI4 Q58EX6 Q6RZ39 Q6RZ40 Q6RZ41 Q8N4S4 Q8WXI5 Q96T70 Q9UK38 Q9Y6Q7 Q9Y6Q8Alternative promoter usage, Alternative splicing : 3 isoforms : P39060-3 P39060-1 P39060-2 (Produced by alternative promoter usage)Explore the universe of human proteins at neXtProt for COL18A1: NX_P39060 Post-translational modifications:
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P39060 COL18A1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (2 alternative transcripts):
NP_085059.2 NP_569712.2 ENSEMBL proteins: ENSP00000383191 ENSP00000347665 ENSP00000339118 ENSP00000415692 ENSP00000352798 Reactome Protein details: P39060 Human Recombinant Protein Products for COL18A1: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
COL18A1 for ontologies About GeneDecksing COL18A1 Antibody Products: Assay Products for COL18A1:
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Protein
Domains / Familiesfor COL18A1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
COL18A1 for domains About GeneDecksing 5/9 InterPro domains/families (see all 9 ):
Graphical View of Domain Structure for InterPro Entry P39060 ProtoNet protein and cluster: P39060
5 Blocks protein families : IPB001791 Laminin G IPB003129 Thrombospondin IPB008160 Collagen triple helix repeat IPB008161 Collagen helix repeat IPB010515 Collagenase NC10 and endostatin UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Similarity : Belongs to the multiplexin collagen familySimilarity : Contains 1 FZ (frizzled) domainSimilarity : Contains 1 laminin G-like domain
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Functionfor COL18A1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: COIA1_HUMAN, P39060 Function : COLA18A probably plays a major role in determining the retinal structure as well as in the closure of theneural tube Function : Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis bybinding to the heparan sulfate proteoglycans involved in growth factor signaling
Genatlas biochemistry entry for COL18A1 : collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
COL18A1 for ontologies About GeneDecksing Phenotypes: 9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Col18a1) :
COL18A1 for phenotypes About GeneDecksing Animal Models: Mouse knock-out Col18a1 tm1Hms for COL18A1Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for COL18A1 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for COL18A1 (see all 3 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): COL18A1 (NM_030582 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COL18A1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL18A1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1
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Pathways & Interactionsfor COL18A1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/11 super-pathways (see all 11 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Integrin Pathway 2 Collagen formation 3 Rho Family GTPases 4 Degradation of the extracellular matrix 5 Blood Coagulation Cascade
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for COL18A1 5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL18A1 (see all 15 )2 BioSystems Pathways for COL18A1 5/8
Reactome Pathways for COL18A1 (see all 8 )1
Kegg Pathway (Kegg details for COL18A1) :
COL18A1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL18A1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/66 Interacting proteins for COL18A1 (P39060 1 , 3 ENSP00000352798 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 66 )About this table Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12 ): About this table
COL18A1 for ontologies About GeneDecksing
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Drugs & Compoundsfor COL18A1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for COL18A1 Search CenterWatch for drugs/clinical trials and news about COL18A1 / COIA1
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Transcriptsfor COL18A1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for COL18A1 gene (3 alternative transcripts): NM_030582.3 NM_130445.2 NM_130444.2 Unigene Cluster for COL18A1:
Collagen, type XVIII, alpha 1 Hs.517356 [show with all ESTs ] Unigene Representative Sequence: AF018081 7 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000400337 (uc002zhg.3 ) ENST00000355480 (uc002zhi.3 ) ENST00000342220 (uc002zhj.3 uc002zhk.3 )ENST00000459895 ENST00000423214 ENST00000473212 ENST00000359759 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for COL18A1 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for COL18A1 (see all 3 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): COL18A1 (NM_030582 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COL18A1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL18A1
Additional cDNA sequence: AF018081.1 AF018082.1 AF184060.1 AF333246.1 AF333247.1 AF416592.1 AK098216.1 AK130835.1 AK311062.1 BC033715.1 BC063833.1
18 DOTS entries : DT.447571 DT.92001135
DT.91912586 DT.95302146 DT.121139495 DT.101985460 DT.100039632 DT.95220877 DT.99986442 DT.92436231 DT.100034049 DT.40116647 DT.100039626 DT.100039627 DT.95090195 DT.95349603 DT.91744920 DT.99955859 24/195 AceView cDNA sequences (see all 195 ):
CA426982 AA350510 NM_003056 AI074505 NM_194255 BU502539 AI814596 AI738703 CR602937 AW298029 BQ003811 F02853 R86040 BU680493 AA743360 BE881571 AI204685 AA913825 T28473 AI858077 AI970756 AI660746 AA350511 AK127669 GeneLoc Exon Structure
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Expression for COL18A1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section COL18A1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TAATCCTCAAAbout this image COL18A1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
See COL18A1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for COL18A1 SOURCE GeneReport for Unigene cluster: Hs.517356 UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Tissue specificity : Present in multiple organs with highest levels in liver, lung and kidney SABiosciences Expression via Pathway-Focused PCR Arrays including COL18A1 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for COL18A1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat COL18A1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat COL18A1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat COL18A1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1
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Orthologsfor COL18A1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for COL18A1 gene from 6/22 species (see all 22 ) About this table
ENSEMBL Gene Tree for COL18A1 (if available)TreeFam Gene Tree for COL18A1 (if available)
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Paralogsfor COL18A1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for COL18A1 gene COL15A1 2 2 SIMAP similar genes for COL18A1 using alignment to 6 protein entries: COIA1_HUMAN (see all proteins ):COLQ COL7A1
COL18A1 for paralogs About GeneDecksing
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Genomic Variantsfor COL18A1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Polymorphism : There is an association between a polymorphism in position 1675 and prostate cancer. HeterozygousAsn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 21 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More