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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_013227 Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. Full Lenth Quote
ORF Sequence $3416.85


RefSeq Version NM_013227.3, 256017256
Length 8840 bp
Structure linear
Update Date 21-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.
Product aggrecan core protein isoform 2 precursor
Comment

Summary: This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq].


Transcript Variant: This variant (2) represents the longer transcript and it encodes the longer protein (isoform 2). Isoform 2 contains an EGF-like and a CRP-like domain in the C-terminus.


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_037359.3
CDS 375..7967
Exon (1)1..367
Exon (2)1..367
Exon (3)368..444
Exon (4)445..828
Exon (5)829..1003
Exon (6)1004..1131
Exon (7)1132..1425
Exon (8)1426..1803
Exon (9)1804..1978
Exon (10)1979..2106
Exon (11)2107..2400
Exon (12)2401..2640
Exon (13)2641..7206
Exon (14)7207..7320
Exon (15)7321..7479
Exon (16)7480..7562
Exon (17)7563..7707
Exon (18)7708..7890
Exon (19)7891..8840
Translation MTTLLWVFVTLRVITAAVTVETSDHDNSLSVSIPQPSPLRVLLGTSLTIPCYFIDPMHPV TTAPSTAPLAPRIKWSRVSKEKEVVLLVATEGRVRVNSAYQDKVSLPNYPAIPSDATLEV QSLRSNDSGVYRCEVMHGIEDSEATLEVVVKGIVFHYRAISTRYTLDFDRAQRACLQNSA IIATPEQLQAAYEDGFHQCDAGWLADQTVRYPIHTPREGCYGDKDEFPGVRTYGIRDTNE TYDVYCFAEEMEGEVFYATSPEKFTFQEAANECRRLGARLATTGQLYLAWQAGMDMCSAG WLADRSVRYPISKARPNCGGNLLGVRTVYVHANQTGYPDPSSRYDAICYTGEDFVDIPEN FFGVGGEEDITVQTVTWPDMELPLPRNITEGEARGSVILTVKPIFEVSPSPLEPEEPFTF APEIGATAFAEVENETGEATRPWGFPTPGLGPATAFTSEDLVVQVTAVPGQPHLPGGVVF HYRPGPTRYSLTFEEAQQACLRTGAVIASPEQLQAAYEAGYEQCDAGWLRDQTVRYPIVS PRTPCVGDKDSSPGVRTYGVRPSTETYDVYCFVDRLEGEVFFATRLEQFTFQEALEFCES HNATLATTGQLYAAWSRGLDKCYAGWLADGSLRYPIVTPRPACGGDKPGVRTVYLYPNQT GLPDPLSRHHAFCFRGISAVPSPGEEEGGTPTSPSGVEEWIVTQVVPGVAAVPVEEETTA VPSGETTAILEFTTEPENQTEWEPAYTPVGTSPLPGILPTWPPTGAATEESTEGPSATEV PSASEEPSPSEVPFPSEEPSPSEEPFPSVRPFPSVELFPSEEPFPSKEPSPSEEPSASEE PYTPSPPVPSWTELPSSGEESGAPDVSGDFTGSGDVSGHLDFSGQLSGDRASGLPSGDLD SSGLTSTVGSGLPVESGLPSGDEERIEWPSTPTVGELPSGAEILEGSASGVGDLSGLPSG EVLETSASGVGDLSGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVL ETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETT APGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPG VEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVED ISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISG LPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPS GEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEV LETAAPGVEDISGLPSGEVLETTAPGVEEISGLPSGEVLETTAPGVDEISGLPSGEVLET TAPGVEEISGLPSGEVLETSTSAVGDLSGLPSGGEVLEISVSGVEDISGLPSGEVVETSA SGIEDVSELPSGEGLETSASGVEDLSRLPSGEEVLEISASGFGDLSGLPSGGEGLETSAS EVGTDLSGLPSGREGLETSASGAEDLSGLPSGKEDLVGSASGDLDLGKLPSGTLGSGQAP ETSGLPSGFSGEYSGVDLGSGPPSGLPDFSGLPSGFPTVSLVDSTLVEVVTASTASELEG RGTIGISGAGEISGLPSSELDISGRASGLPSGTELSGQASGSPDVSGEIPGLFGVSGQPS GFPDTSGETSGVTELSGLSSGQPGISGEASGVLYGTSQPFGITDLSGETSGVPDLSGQPS GLPGFSGATSGVPDLVSGTTSGSGESSGITFVDTSLVEVAPTTFKEEEGLGSVELSGLPS GEADLSGKSGMVDVSGQFSGTVDSSGFTSQTPEFSGLPSGIAEVSGESSRAEIGSSLPSG AYYGSGTPSSFPTVSLVDRTLVESVTQAPTAQEAGEGPSGILELSGAHSGAPDMSGEHSG FLDLSGLQSGLIEPSGEPPGTPYFSGDFASTTNVSGESSVAMGTSGEASGLPEVTLITSE FVEGVTEPTISQELGQRPPVTHTPQLFESSGKVSTAGDISGATPVLPGSGVEVSSVPESS SETSAYPEAGFGASAAPEASREDSGSPDLSETTSAFHEANLERSSGLGVSGSTLTFQEGE ASAAPEVSGESTTTSDVGTEAPGLPSATPTASGDRTEISGDLSGHTSQLGVVISTSIPES EWTQQTQRPAETHLEIESSSLLYSGEETHTVETATSPTDASIPASPEWKRESESTAAAPA RSCAEEPCGAGTCKETEGHVICLCPPGYTGEHCNIDQEVCEEGWNKYQGHCYRHFPDRET WVDAERRCREQQSHLSSIVTPEEQEFVNNNAQDYQWIGLNDRTIEGDFRWSDGHPMQFEN WRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTFG QKKDRYEINSLVRYQCTEGFVQRHMPTIRCQPSGHWEEPQITCTDPTTYKRRLQKRSSRH PRRSRPSTAH
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Position Chain Variation Link
194..195+, cdbSNP:35909381
680+a, cdbSNP:16942318
812+a, gdbSNP:35600223
1118+c, tdbSNP:35790816
1198+a, gdbSNP:34949187
1206..1207+, cdbSNP:35281241
1298+c, gdbSNP:117583968
1403+a, cdbSNP:12593024
1420+a, gdbSNP:79832113
1557+a, gdbSNP:117772298
1595+c, tdbSNP:16942341
1610+a, gdbSNP:116981974
1843+c, tdbSNP:117116488
1864+a, tdbSNP:117881662
1889+a, gdbSNP:34957282
1904+a, gdbSNP:34637731
1997+a, cdbSNP:2272023
2010+g, tdbSNP:62640041
2093+a, gdbSNP:57669733
2183+c, tdbSNP:1568116
2224+a, gdbSNP:34616796
2240+c, tdbSNP:35652696
2272+a, gdbSNP:35965913
2342+c, tdbSNP:74029641
2349+c, gdbSNP:77073546
2377+a, gdbSNP:77572130
2398+a, gdbSNP:35102652
2496+a, gdbSNP:35120858
complement(2663)-g, adbSNP:2351491
2764+a, gdbSNP:78770909
complement(2888)-t, cdbSNP:3743399
2897+a, gdbSNP:74664106
complement(2965)-g, adbSNP:3743398
3083+a, tdbSNP:113581263
3111+a, cdbSNP:35430524
3163+g, tdbSNP:938608
3189+a, tdbSNP:938609
3296+c, tdbSNP:62023517
3326+c, tdbSNP:62023518
3383+c, tdbSNP:4080952
3384+a, gdbSNP:34570487
3387+a, gdbSNP:56244342
3440+c, tdbSNP:28496654
3441+a, gdbSNP:76764947
3497+c, tdbSNP:11633157
3554+c, tdbSNP:113229763
3611+c, tdbSNP:77709198
3612+a, gdbSNP:75032377
3668..4066+dbSNP:71149236
3668+c, tdbSNP:62023519
3689..4030+dbSNP:71149237
complement(3709)-t, cdbSNP:112126237
3725+c, tdbSNP:75469674
3840+a, gdbSNP:113457214
3954+ca, tgdbSNP:34309532
4010+c, tdbSNP:79161342
4011+a, ca, g, tgdbSNP:11638262
4035+a, gdbSNP:112624191
4087+c, tdbSNP:61736998
4092+a, gdbSNP:56014140
4108+a, gdbSNP:56162368
4124+c, tdbSNP:71408893
4181+c, tdbSNP:71408894
4238+c, tdbSNP:71408895
4295+c, tdbSNP:67900127
4524+a, gdbSNP:61465251
4581+a, gdbSNP:12899191
4601+c, gdbSNP:28559926
4629+c, tdbSNP:11634626
4638+a, gdbSNP:35546357
4664+c, tdbSNP:78806382
4713+a, gdbSNP:112335908
4721+c, tdbSNP:60790354
complement(4897)-t, gdbSNP:2882676
5129+c, tdbSNP:78523879
5238+a, gdbSNP:28407189
5521+g, tdbSNP:79925540
5667+a, gdbSNP:4932439
5775+a, gdbSNP:71403956
5920+g, tdbSNP:34124958
5937+c, tdbSNP:74505897
6149+g, tdbSNP:77367735
6152+a, gdbSNP:78165387
complement(6173)-c, adbSNP:3825994
6174+c, gdbSNP:76282091
6295+c, tdbSNP:74477529
6372+a, gdbSNP:34546634
6383+c, tdbSNP:35676128
6517+a, cdbSNP:34074148
6547+c, tdbSNP:35061438
6609+a, gdbSNP:1042630
6680+a, gdbSNP:62023520
6734+c, gdbSNP:34153007
6785+c, tdbSNP:34543273
6797+c, tdbSNP:1042631
6880+a, gdbSNP:116530539
complement(7154)-c, adbSNP:698621
7457+c, tdbSNP:35446117
complement(7493)-g, cdbSNP:3817428
7715+c, tdbSNP:117879889
7873+a, gdbSNP:1126823
7890+, largedeletiondbSNP:67727334
8022+c, tdbSNP:114820113
8345+c, tdbSNP:76635155
8486+a, cdbSNP:73458267
8581+c, tdbSNP:74892133
8640+c, tdbSNP:73458269
Gene SymbolACAN
Gene SynonymAGC1; AGCAN; CSPG1; CSPGCP; MSK16; SEDK
Chromosome15
Locus Map15q26.1
All Transcripts NM_013227 , NM_001135
Title The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration .
Author Kim,N.K., Shin,D.A., Han,I.B., Yoo,E.H., Kim,S.H. and Chung,S.S.
Journal Acta Neurochir (Wien) 153 (1), 129-133 (2011)
Title Order within disorder: aggrecan chondroitin sulphate-attachment region provides new structural insights into protein sequences classified as disordered .
Author Jowitt,T.A., Murdoch,A.D., Baldock,C., Berry,R., Day,J.M. and Hardingham,T.E.
Journal Proteins 78 (16), 3317-3327 (2010)
Title Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum .
Author Stacey,M.W., Neumann,S.A., Dooley,A., Segna,K., Kelly,R.E., Nuss,D., Kuhn,A.M., Goretsky,M.J., Fecteau,A.H., Pastor,A. and Proud,V.K.
Journal Clin. Genet. 78 (5), 502-504 (2010)
Title Circulating levels of interleukin-6, vascular endothelial growth factor, YKL-40, matrix metalloproteinase-3, and total aggrecan in spondyloarthritis patients during 3 years of treatment with TNFalpha inhibitors .
Author Pedersen,S.J., Hetland,M.L., Sorensen,I.J., Ostergaard,M., Nielsen,H.J. and Johansen,J.S.
Journal Clin. Rheumatol. 29 (11), 1301-1309 (2010)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title The interglobular domain of cartilage aggrecan is cleaved by PUMP, gelatinases, and cathepsin B .
Author Fosang,A.J., Neame,P.J., Last,K., Hardingham,T.E., Murphy,G. and Hamilton,J.A.
Journal J. Biol. Chem. 267 (27), 19470-19474 (1992)
Title The structure of aggrecan fragments in human synovial fluid. Evidence for the involvement in osteoarthritis of a novel proteinase which cleaves the Glu 373-Ala 374 bond of the interglobular domain .
Author Sandy,J.D., Flannery,C.R., Neame,P.J. and Lohmander,L.S.
Journal J. Clin. Invest. 89 (5), 1512-1516 (1992)
Title Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms .
Author Doege,K.J., Sasaki,M., Kimura,T. and Yamada,Y.
Journal J. Biol. Chem. 266 (2), 894-902 (1991)
Title A new epidermal growth factor-like domain in the human core protein for the large cartilage-specific proteoglycan. Evidence for alternative splicing of the domain .
Author Baldwin,C.T., Reginato,A.M. and Prockop,D.J.
Journal J. Biol. Chem. 264 (27), 15747-15750 (1989)
Title Absence of proteoglycan core protein in cartilage from the cmd/cmd (cartilage matrix deficiency) mouse .
Author Kimata,K., Barrach,H.J., Brown,K.S. and Pennypacker,J.P.
Journal J. Biol. Chem. 256 (13), 6961-6968 (1981)

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