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Aliases & Descriptions for COL18A1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase , and/or 9 Nature :405,311-319 and CroW21)About This Section
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Aliases FLJ27325 2 FLJ34914 2 KNO 2 KNO1 2 , 5 MGC74745 2 OTTHUMP00000115472 2 OTTHUMP00000115473 2 endostatin 2
Descriptions alpha 1 type XVIII collagen 2 antiangiogenic agent 2 collagen, type XVIII, alpha 1 2 human type XVIII collagen 9 multi-functional protein MFP 2
Search outside databases for aliases for COL18A1 genePrevious GC identifers: GC21P043334 GC21P045681
Summaries for COL18A1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene 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 typeXVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene areassociated with Knobloch syndrome. The main features of this syndrome involve retinalabnormalities, so type XVIII collagen may play an important role in retinal structure and inneural tube closure. Alternatively spliced transcript variants encoding different isoforms havebeen found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Function : Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibitangiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling
Gene Wiki entry for COL18A1 (Collagen%2C_type_XVIII%2C_alpha_1)
Genomic Location for COL18A1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences , Whole Chromsome Sequence According to
Nature (Cited Here with Permission) :405,311-319 and CroW21)About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3 Nature(405: 311-319) cytogenetic band: 21q22.3 COL18A1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
GC21P045649:
GeneLoc
Nature :405,311-319
Start:
45,649,480 bp from pter
32,384,934 bp from centromere
End:
45,758,062 bp from pter
32,443,158 bp from centromere
Size:
108,583 bases
58,225 bases
Orientation:
plus strand
plus strand
RefSeq DNA sequence: NC_000021.7 NT_011515.11 Proteins for COL18A1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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)
PDB structures from and Proteopedia : 1BNL (3D)
 
Secondary accessions : Q58EX6 Q6RZ39 Q6RZ40 Q6RZ41 Q8N4S4 Q8WXI5 Q96T70 Q9UK38 Q9Y6Q7 Q9Y6Q8Alternative promoter usage, Alternative splicing : 3 isoforms : P39060-3 P39060-1 P39060-2
Post-translational modifications:
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some orall of the chains1
REFSEQ proteins (3 alternative transcripts):
NP_085059.2 NP_569711.2 NP_569712.2 ENSEMBL proteins: ENSP00000383201 ENSP00000383191 ENSP00000347665 ENSP00000352798 ENSP00000339118 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for COL18A1: Assays for COL18A1:
Protein
Domains/ Families for COL18A1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 TSP N-terminal (TSPN) domain
Gene Function for COL18A1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
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Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_130444 Applied Biosystems Silencer ® siRNAs for COL18A1 Sigma-Aldrich siRNA and siRNA Panels for COL18A1 Sigma-Aldrich shRNA Panels and shRNA for COL18A1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_030582                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_030582                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_030582  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_130444 UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Function : COLA18A probably plays a major role in determining the retinal structure as well as inthe closure of the neural tube Function : Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibitangiogenesis by binding 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
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Col18a1) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for COL18A1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for COL18A1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for COL18A1 5/29 Interacting proteins for COL18A1 (ENSP00000352798 3 ) via UniProtKB, MINT, and/or STRING (see all 29
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for COL18A1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for COL18A1
Transcripts for COL18A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_130444 Sigma-Aldrich siRNA and siRNA Panels for COL18A1 Sigma-Aldrich shRNA Panels and shRNA for COL18A1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_030582 NM_130444 NM_130445
REFSEQ mRNAs for COL18A1 gene (3 alternative transcripts): NM_030582.3 NM_130444.2 NM_130445.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_030582 NM_130444 NM_130445
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_030582                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_030582                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_030582  
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 CR622901.1
19 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.100039626 DT.40116647 DT.100039627 DT.91744920 DT.95090195 DT.95349603 DT.100798481 DT.99955859
24/195 AceView cDNA sequences (see all 195
):BQ003811 AI076853 AA350510 AW298029 AA731506 AW137045 AI660746 AI858077 CR602937 BE881571 AA350512 T28473 NM_194255 BU680493 F02853 AI204685 R86040 AA069352 CA426982 AI074505 AA913825 AA743360 BG106854 AK127669
highest scoring ESTs for COL18A1 :AF018081 AA009986 AA009987 AA063600 AA099280 AA099281 AA156716 AA156812 AA190539 AA193615
Unigene Cluster for COL18A1: Collagen, type XVIII, alpha 1 Hs.517356 [show with all ESTs ] Unigene Representative Sequence: NM_130444 GeneLoc Exon Structure 5 Ensembl transcripts including schematic representations : ENST00000400347
ENST00000400337
ENST00000355480
ENST00000359759
ENST00000342220
Expression for COL18A1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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COL18A1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for COL18A1 1 / 2 / 3
5 probe-sets matching COL18A1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TAATCCTCAASOURCE GeneReport for Unigene cluster: Hs.517356 Expression variation in blood from EXPOLDB for COL18A1
UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 Tissue specificity : Present in multiple organs with highest levels in liver, lung and kidney
Orthologs for COL18A1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for COL18A1 gene from 5/9 species (see all 9
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
chimpanzee (Pan troglodytes)
COL18A11
--
collagen, type XVIII, alpha 1
98.41(n) 98.54(a)
474050 XM_531500.2 XP_531500.2
cow (Bos taurus)
COL18A11
--
collagen, type XVIII, alpha 1
78.95(n) 78.21(a)
508076 XM_584804.3 XP_584804.3
rat (Rattus norvegicus)
Col18a11
--
collagen, type XVIII, alpha 1
77.08(n) 78.94(a)
85251 XM_241632.4 XP_241632.4
mouse (Mus musculus)
Col18a11 , 5
10 (41.30 cM) 5
collagen, type XVIII, alpha 11, 5
77.79(n) 1 79.92(a) 1
12822 1 NM_009929.2 1 NP_034059.2 1 AC007641 5 AC055777 5 (see all 38 )
chicken (Gallus gallus)
COL18A11
--
collagen, type XVIII, alpha 1
65.27(n) 63.61(a)
373978 NM_204164.1 NP_989495.1
About this table Species with no ortholog for COL18A1 ENSEMBL Gene Tree for COL18A1 Paralogs for COL18A1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for COL18A1 gene COL15A1 2
SNPs/Variants for COL18A1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 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 canceras compared with homozygous Asp-1675 individuals
HapMap Linkage Disequilibrium images for COL18A1 (up to first 250kb)
Disorders & Mutations for COL18A1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 120328 disorders : 267750 UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
Defects in COL18A1 are a cause of Knobloch syndrome (KNO) [MIM:267750]. KNO is anautosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degenerationwith retinal detachment, macular abnormalities and occipital encephalocele
2 Novoseek disease relationships for COL18A1 gene
About this table Human Gene Mutation Database : COL18A1 Genetic Association Database: COL18A1 Human Genome Epidemiology Navigator: COL18A1 (11 documents) Tumor Gene Database : COL18A1 Breast Cancer Gene Database : COL18A1
Medical News for COL18A1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for COL18A1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/101 PubMed articles for COL18A1 gene (see all 101
): 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. (PubMed id 8188291) 1, 2, 3, 4 Oh S.P....Olsen B.R. (1994) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (PubMed id 14695535) 1, 3, 4 Menzel O.... Guipponi M. (2004) 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. (PubMed id 10942434) 1, 3, 4 Sertie A.L....Passos-Bueno M.R. (2000) Endostatin polymorphism 4349G/A(D104N) is not associated with aggressiveness of disease in prostate [corrected] cancer. (PubMed id 15735323) 3, 6 Li H.C....Lu B. (2005) Genotyping and functional analysis of the D104N variant of human endostatin. (PubMed id 15662127) 3, 6 Macpherson G.R....Figg W.D. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) A polymorphism in the angiogenesis inhibitor, endostatin, in multiple myeloma. (PubMed id 12479859) 3, 6 Ortega M.M....Lima C.S. (2003) Assocation of endostatin D104N with leukemia. (PubMed id 12693719) 3, 6 Liu T.C....Chang J.G. (2003) Characterization of the human type XVIII collagen gene and proteolytic processing and tissue location of the variant containing a frizzled motif. (PubMed id 14614989) 3, 4 Elamaa H.... Pihlajaniemi T. (2003) Inhibition effect in vitro of purified endostatin expressed in Pichia pastoris. (PubMed id 11517600) 3, 4 Feng Y.... Ma Q.J. (2001)
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Genome Databases showing COL18A1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing COL18A1
(According to HUGE )
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--
Specialized Databases showing COL18A1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for COL18A1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for COL18A1:
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009