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Sequence in raw or FASTA format:

Database:

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Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_030582 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

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RefSeq Version NM_030582.3, 110611234
Length 5910 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.
Product collagen alpha-1(XVIII) chain isoform 1 precursor
Comment

Summary: 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].


Transcript Variant: This variant (1) is generated from an alternate promoter. It lacks an in-frame segment in the 5' exon, as compared to variant 3. The resulting isoform (1) lacks an internal segment in the N-terminus, as compared to isoform 3.

RefSeq NP_085059.2
CDS 22..4572
Misc Feature(1)127..573
Misc Feature(2)760..1248
Misc Feature(3)<2515..2640
Misc Feature(4)4039..4551
Misc Feature(5)order(4132..4134,4159..4161,4177..4179,4204..4209,
Exon (1)1..667
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (2)668..1212
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (3)1213..1299
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (4)1300..1359
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (5)1360..1489
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (6)1490..1566
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (7)1567..1782
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (8)1783..1809
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (9)1810..1872
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (10)1873..1959
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (11)1960..2013
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (12)2014..2172
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (13)2173..2235
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (14)2236..2262
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (15)2263..2394
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (16)2395..2457
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (17)2458..2484
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (18)2485..2520
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (19)2521..2592
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (20)2593..2628
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (21)2629..2718
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (22)2719..2748
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (23)2749..2775
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (24)2776..2838
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (25)2839..2913
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (26)2914..2940
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (27)2941..2994
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (28)2995..3069
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (29)3070..3138
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (30)3139..3181
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (31)3182..3244
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (32)3245..3288
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (33)3289..3420
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (34)3421..3565
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (35)3566..3639
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (36)3640..3768
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (37)3769..3801
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (38)3802..4047
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (39)4048..4245
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (40)4246..4361
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (41)4362..5894
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Translation MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADT TTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKG IRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTD DPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVL LGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDC EEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEE GDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVE EQTTVASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSP CLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTG PQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDL EALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPP GPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPP GPPGPGLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADG VPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDG SVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQ KGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPG PPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFD FLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPRGYPGIPGPKGESI RGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGT MGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGT DNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSY VHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFR AFLSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKD VLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHH AYIVLCIENSFMTASK
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Position Chain Variation Link
77+c, tdbSNP:7277693
111+a, gdbSNP:200976185
141+c, tdbSNP:914230
152+c, tdbSNP:199984023
163+c, gdbSNP:61749002
167+a, tdbSNP:61735029
192+a, gdbSNP:200354859
200+c, tdbSNP:199929202
260+c, gdbSNP:61739237
312+c, tdbSNP:201529109
324+c, tdbSNP:149777818
352+a, gdbSNP:114139997
369+c, tdbSNP:62000459
394+a, gdbSNP:200559406
451+a, gdbSNP:61759533
523+c, gdbSNP:201773944
536+a, gdbSNP:200284308
538+a, gdbSNP:62000960
558+c, tdbSNP:73386835
559+a, gdbSNP:148957774
581+c, tdbSNP:142892701
609+c, gdbSNP:199717521
621+g, tdbSNP:201419516
622+c, tdbSNP:199725915
660+a, gdbSNP:2236451
687+dbSNP:
687+a, gdbSNP:115800039
711+a, cdbSNP:190083327
737+c, tdbSNP:200842530
802+c, tdbSNP:76658745
849+c, tdbSNP:149578781
856+c, tdbSNP:199918230
871+a, gdbSNP:112855834
876+a, cdbSNP:201508976
897+a, gdbSNP:61735014
913+a, cdbSNP:200702024
981+a, gdbSNP:17004775
1012+a, gdbSNP:201833726
1057+a, gdbSNP:144281842
1071+a, gdbSNP:76754353
1139+a, gdbSNP:2236453
1164+c, tdbSNP:17004776
1174+a, gdbSNP:201116208
1185+a, gdbSNP:76148908
1221+dbSNP:
1221+c, tdbSNP:189093550
1228+c, tdbSNP:60162212
1232+a, cdbSNP:200168928
1238+a, gdbSNP:201095161
1252+a, gdbSNP:202012055
1254+a, gdbSNP:149772252
1304+dbSNP:
1304+c, tdbSNP:200073359
1337+g, tdbSNP:62000965
1362+dbSNP:
1362+c, tdbSNP:145912433
1389+a, gdbSNP:2230686
1398+c, gdbSNP:2230687
1402+a, cdbSNP:192075600
1407+a, c, g, tdbSNP:2230688
1433+c, tdbSNP:201652671
1434+a, gdbSNP:183924183
1435+c, gdbSNP:138471288
1472+c, tdbSNP:200230216
1473+a, gdbSNP:141548934
1476+g, tdbSNP:17338853
1481+c, tdbSNP:200882031
1570+dbSNP:
1570+a, gdbSNP:76547444
1633+c, gdbSNP:62000458
1704+a, gdbSNP:2230689
1785+dbSNP:
1785+c, gdbSNP:13046486
1786+a, gdbSNP:200553372
1809+a, gdbSNP:185296216
1818+dbSNP:
1818+a, cdbSNP:183085141
1827+a, gdbSNP:113540632
1836+c, tdbSNP:1131100
1851+c, tdbSNP:1131101
1853+c, tdbSNP:201414473
1866+a, cdbSNP:1131102
1884+dbSNP:
1884+a, gdbSNP:201380467
1951+a, gdbSNP:61738822
1989+dbSNP:
1989+c, tdbSNP:2236467
2070+dbSNP:
2070+c, tdbSNP:112723616
2101+a, gdbSNP:79292579
2103+c, tdbSNP:200106008
2106..2107+, cdbSNP:35603970
2116+g, tdbSNP:61737706
2235+dbSNP:
2235+a, gdbSNP:181807938
2244+dbSNP:
2244+a, gdbSNP:75222922
2248+a, gdbSNP:201476017
2321+dbSNP:
2321+c, tdbSNP:199823547
2443+dbSNP:
2443+a, gdbSNP:181012655
2466+dbSNP:
2466+c, tdbSNP:199523495
2481+c, tdbSNP:11702425
2511+dbSNP:
2511+a, gdbSNP:61731167
2542+dbSNP:
2542+a, gdbSNP:62000962
2556+c, tdbSNP:185089648
2559+c, tdbSNP:62000963
2562..2563+, cdbSNP:35277478
2678+dbSNP:
2678+c, gdbSNP:79980197
2727+dbSNP:
2727+c, tdbSNP:201512380
2734+a, gdbSNP:116111018
2744+a, cdbSNP:58380358
2753+dbSNP:
2753+a, gdbSNP:201805043
2757+a, gdbSNP:115470104
2775+c, tdbSNP:199910738
2901+dbSNP:
2901+c, gdbSNP:2230693
2949+dbSNP:
2949+c, tdbSNP:139122081
2953+c, tdbSNP:201566264
2994+a, gdbSNP:200147240
3139+dbSNP:
3139+g, tdbSNP:200779516
3234+dbSNP:
3234+c, tdbSNP:191481067
3254+dbSNP:
3254+c, tdbSNP:201753320
3255+a, gdbSNP:190374248
3263+, ttcdbSNP:78636159
3342+dbSNP:
3342+c, tdbSNP:11544970
3343+a, gdbSNP:187721798
3348+c, tdbSNP:11544971
3375..3383+, cggccccccdbSNP:72301048
3376..3393+, ggcccccccggccccccadbSNP:201180574
3385..3393+, ggccccccadbSNP:149296338
3388+, cccccaggcdbSNP:11276732
3390..3398+, cccaggcccdbSNP:56328291
3393+a, cdbSNP:28696990
3398+, cccaggcccdbSNP:78227997
3401+a, gdbSNP:202106628
3500+dbSNP:
3500+a, gdbSNP:200299380
3574+dbSNP:
3574+a, gdbSNP:201381498
3659+dbSNP:
3659+a, gdbSNP:199718927
3676..3681+, caggtgdbSNP:201754608
3685+a, gdbSNP:200427354
3694+a, gdbSNP:201265799
3782+dbSNP:
3782+c, tdbSNP:200839439
3783+a, gdbSNP:12483761
3794+a, gdbSNP:199583095
3826+dbSNP:
3826+c, gdbSNP:76086392
3863+c, gdbSNP:187670025
3893+g, tdbSNP:112359725
3904+a, gdbSNP:113268527
3958+a, gdbSNP:199836125
3996+a, gdbSNP:150227889
3999+a, gdbSNP:1050351
4080+dbSNP:
4080+a, gdbSNP:9980939
4091+a, gdbSNP:200484625
4161+c, tdbSNP:114276639
4162+a, gdbSNP:144147445
4208+a, gdbSNP:200043539
4217+a, gdbSNP:201006742
4225+c, tdbSNP:77326997
4233+c, tdbSNP:2838952
4302+dbSNP:
4302+a, gdbSNP:199498978
4315+c, tdbSNP:199908300
4330+a, gdbSNP:12483377
4342+a, gdbSNP:202104330
4375+dbSNP:
4375+c, g, tdbSNP:61736805
4387+g, tdbSNP:200871316
4389+a, gdbSNP:113315760
4403+a, gdbSNP:202049650
4472+c, tdbSNP:61735035
4517+a, gdbSNP:201489582
4578+a, gdbSNP:138930698
4587+a, cdbSNP:149459132
4588+a, gdbSNP:7499
4643+a, gdbSNP:8199
4785+c, tdbSNP:143852653
4849+c, tdbSNP:17004784
4863+a, gdbSNP:148610040
4871+a, gdbSNP:183949177
4874+a, cdbSNP:17255281
4878+c, gdbSNP:17004785
4912+a, gdbSNP:7867
4920+c, tdbSNP:146206934
5014+a, cdbSNP:11544972
5421+a, tdbSNP:17255379
5424+c, gdbSNP:17004786
5436+a, cdbSNP:186538749
5490+c, tdbSNP:117981301
5618+c, gdbSNP:1063505
5719..5720+, cadbSNP:143456926
5720..5721+, cadbSNP:78063943
5720..5721+c, gdbSNP:1063507
5720+a, cdbSNP:201512613
5721..5722+, cadbSNP:71868999
5763+a, gdbSNP:190947105
5790+c, tdbSNP:144079697
5809+c, tdbSNP:115900328
5819+a, gdbSNP:182474443
5833+g, tdbSNP:78156175
Gene SymbolCOL18A1
Gene SynonymKNO; KNO1; KS
Chromosome21
Locus Map21q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_030582 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. On-demand TBD TBD
NM_130445 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 2, mRNA. On-demand TBD TBD
Title Correlations between serum levels of vascular endothelial growth factor and endostatin with clinical pathological characteristics of patients with gastrointestinal cancers .
Author Li,M., Liu,F., Sun,P., Gao,Y., Chen,H., Liu,H., Wang,M., Chen,J. and Zhao,Y.
Journal Hepatogastroenterology 59 (118), 1865-1868 (2012)
Title Endostatin lowers blood pressure via nitric oxide and prevents hypertension associated with VEGF inhibition .
Author Sunshine,S.B., Dallabrida,S.M., Durand,E., Ismail,N.S., Bazinet,L., Birsner,A.E., Sohn,R., Ikeda,S., Pu,W.T., Kulke,M.H., Javaherian,K., Zurakowski,D., Folkman,J.M. and Rupnick,M.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (28), 11306-11311 (2012)
Title Multiple loci influencing hippocampal degeneration identified by genome scan .
Author Melville,S.A., Buros,J., Parrado,A.R., Vardarajan,B., Logue,M.W., Shen,L., Risacher,S.L., Kim,S., Jun,G., DeCarli,C., Lunetta,K.L., Baldwin,C.T., Saykin,A.J. and Farrer,L.A.
Journal Ann. Neurol. 72 (1), 65-75 (2012)
Title Transcription expression and clinical significance of vascular endothelial growth factor mRNA and endostatin mRNA in pleural effusions of patients with lung cancer .
Author Chen,Y., Liang,B., Zhao,Y.J., Wang,S.C., Fan,Y.B. and Wu,G.P.
Journal Diagn. Cytopathol. 40 (4), 287-291 (2012)
Title A 3' UTR SNP in COL18A1 is associated with susceptibility to HBV related hepatocellular carcinoma in Chinese: three independent case-control studies .
Author Wu,X., Wu,J., Xin,Z., Wang,H., Zhu,X., Pan,L., Li,Z., Li,H. and Liu,Y.
Journal PLoS ONE 7 (3), E33855 (2012)
Title Zinc-dependent dimers observed in crystals of human endostatin .
Author Ding,Y.H., Javaherian,K., Lo,K.M., Chopra,R., Boehm,T., Lanciotti,J., Harris,B.A., Li,Y., Shapiro,R., Hohenester,E., Timpl,R., Folkman,J. and Wiley,D.C.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (18), 10443-10448 (1998)
Title Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts .
Author Saarela,J., Ylikarppa,R., Rehn,M., Purmonen,S. and Pihlajaniemi,T.
Journal Matrix Biol. 16 (6), 319-328 (1998)
Title A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 .
Author Sertie,A.L., Quimby,M., Moreira,E.S., Murray,J., Zatz,M., Antonarakis,S.E. and Passos-Bueno,M.R.
Journal Hum. Mol. Genet. 5 (6), 843-847 (1996)
Title Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins .
Author Oh,S.P., Kamagata,Y., Muragaki,Y., Timmons,S., Ooshima,A. and Olsen,B.R.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (10), 4229-4233 (1994)
Title 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 .
Author Oh,S.P., Warman,M.L., Seldin,M.F., Cheng,S.D., Knoll,J.H., Timmons,S. and Olsen,B.R.
Journal Genomics 19 (3), 494-499 (1994)


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