Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.
| RefSeq Version | NM_030582.3, 110611234 |
| Length | 5910 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| 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]. 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 | Exon (1) | 1..667 | Exon (2) | 1..667 | Exon (3) | 668..1212 | Exon (4) | 1213..1299 | Exon (5) | 1300..1359 | Exon (6) | 1360..1489 | Exon (7) | 1490..1566 | Exon (8) | 1567..1782 | Exon (9) | 1783..1809 | Exon (10) | 1810..1872 | Exon (11) | 1873..1959 | Exon (12) | 1960..2013 | Exon (13) | 2014..2172 | Exon (14) | 2173..2235 | Exon (15) | 2236..2262 | Exon (16) | 2263..2394 | Exon (17) | 2395..2457 | Exon (18) | 2458..2484 | Exon (19) | 2485..2520 | Exon (20) | 2521..2592 | Exon (21) | 2593..2628 | Exon (22) | 2629..2718 | Exon (23) | 2719..2748 | Exon (24) | 2749..2775 | Exon (25) | 2776..2838 | Exon (26) | 2839..2913 | Exon (27) | 2914..2940 | Exon (28) | 2941..2994 | Exon (29) | 2995..3069 | Exon (30) | 3070..3138 | Exon (31) | 3139..3181 | Exon (32) | 3182..3244 | Exon (33) | 3245..3288 | Exon (34) | 3289..3420 | Exon (35) | 3421..3565 | Exon (36) | 3566..3639 | Exon (37) | 3640..3768 | Exon (38) | 3769..3801 | Exon (39) | 3802..4047 | Exon (40) | 4048..4245 | Exon (41) | 4246..4361 | Exon (42) | 4362..5894 |
| 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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| Gene Symbol | COL18A1 |
| Gene Synonym | FLJ27325; FLJ34914; KNO; KNO1; KS; MGC74745 |
| Chromosome | 21 |
| Locus Map | 21q22.3 |
| All Transcripts | NM_030582 , NM_130445 |
| Title | MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer . |
| Author | Zhang,X., Yang,H., Lee,J.J., Kim,E., Lippman,S.M., Khuri,F.R., Spitz,M.R., Lotan,R., Hong,W.K. and Wu,X. |
| Journal | Carcinogenesis 31 (12), 2118-2123 (2010) |
| Title | Lack of collagen XVIII/endostatin exacerbates immune-mediated glomerulonephritis . |
| Author | Hamano,Y., Okude,T., Shirai,R., Sato,I., Kimura,R., Ogawa,M., Ueda,Y., Yokosuka,O., Kalluri,R. and Ueda,S. |
| Journal | J. Am. Soc. Nephrol. 21 (9), 1445-1455 (2010) |
| Title | Prognostic relevance of collagen XVIII expression in metastatic gastric carcinoma . |
| Author | Lee,K.S., Park,G.S., Hong,S.H., Byun,J.H., Woo,I.S., Jeon,H.M. and Hong,Y.S. |
| Journal | Tumour Biol. 31 (3), 165-170 (2010) |
| Title | Deletion of the basement membrane heparan sulfate proteoglycan type . |
| Author | Bishop,J.R., Passos-Bueno,M.R., Fong,L., Stanford,K.I., Gonzales,J.C., Yeh,E., Young,S.G., Bensadoun,A., Witztum,J.L., Esko,J.D. and Moulton,K.S. |
| Journal | PLoS ONE 5 (11), E13919 (2010) |
| Title | Serum angiogenic factors in patients with neuroendocrine tumors of abdominal organs . |
| Author | Polikarpova,S.B., Lyubimova,N.V., Smirnova,E.A., Britvin,T.A., Ogereliev,A.S. and Davidov,M.I. |
| Journal | Bull. Exp. Biol. Med. 148 (4), 634-637 (2009) |
| 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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