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Aliases & Descriptions for ACAN
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AGC1 2 , 3 , 5 AGCAN 2 CSPCP 3 CSPG1 2 , 3 , 5 CSPGCP 1 , 2 MSK16 2 , 3 , 5 SEDK 2 , 5 aggrecan 2
Descriptions Cartilage-specific proteoglycan core protein 2 , 3 Chondroitin sulfate proteoglycan core protein 1 3 aggrecan 1 1 aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122) 2 aggrecan proteoglycan 2 chondroitin sulfate proteoglycan 1 1 , 2 large aggregating proteoglycan 2
Search outside databases for aliases for ACAN gene
Summaries for ACAN (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACAN : This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is anintegral part of the extracellular matrix in cartilagenous tissue and it withstands compression incartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration.Multiple alternatively spliced transcript variants that encode different protein isoforms havebeen observed in this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112 Function : This proteoglycan is a major component of extracellular matrix of cartilagenous tissues.A major function of this protein is to resist compression in cartilage. It binds avidly tohyaluronic acid via an N-terminal globular region
Gene Wiki entry for ACAN (Aggrecan)
Genomic Location for ACAN
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 15q26.1 Ensembl cytogenetic band: 15q26.1 HGNC cytogenetic band: 15q26.1 ACAN Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15P087148:
(about GC identifiers )
Start:
87,147,678 bp from pter
End:
87,219,589 bp from pter
Size:
71,912 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000015.8 NT_010274.16 Proteins for ACAN
(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: PGCA_HUMAN, P16112 (See
protein sequence )Recommended Name: Aggrecan core protein precursor Size : 2415 amino acids; 250193 Da
Subunit : Interacts with FBLN1 (By similarity)
Subcellular location : Secreted, extracellular space, extracellular matrix (By similarity)
Developmental stage : Expression was detected in chondrocytes throughout the developing skeleton
Secondary accessions : Q13650 Q9UCD3 Q9UCP4 Q9UCP5 Q9UDE0Alternative splicing : 3 isoforms : P16112-1 P16112-2 P16112-3 (Additional isoforms seem to exist)
Post-translational modifications:
Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linkedoligosaccharides. The release of aggrecan fragments from articular cartilage into the synovialfluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase1
View phosphorylation sites using PhosphoSite 2 (ACAN)
REFSEQ proteins (2 alternative transcripts):
NP_001126.2 NP_037359.2 ENSEMBL proteins: ENSP00000268134 ENSP00000342398 ENSP00000341615 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005576 extracellular region
IEA -- GO:0005578 proteinaceous extracellular matrix
IEA --
About this table Antibodies for ACAN: Assays for ACAN:
Protein
Domains/ Families for ACAN(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 P16112 ProtoNet protein and cluster: P16112
5/6 Blocks protein families (see all 6
): IPB000436 Sushi domain/SCR domain/CCP module IPB000538 Link domain IPB002353 Type II antifreeze protein signature IPB003599 Immunoglobulin subtype IPB006210 Type I EGF UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112 Domain : Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while anotherglobular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of threedisulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. Thekeratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3 Similarity : Belongs to the aggrecan/versican proteoglycan familySimilarity : Contains 1 C-type lectin domainSimilarity : Contains 1 EGF-like domainSimilarity : Contains 1 Ig-like V-type (immunoglobulin-like) domainSimilarity : Contains 4 Link domainsSimilarity : Contains 1 Sushi (CCP/SCR) domain
Gene Function for ACAN
(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 ,
OriGene , and/or
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 2 ): NM_001135 Applied Biosystems Silencer ® siRNAs for ACAN Sigma-Aldrich siRNA for ACAN Sigma-Aldrich shRNA for ACAN Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001135                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001135                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001135  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_013227 UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112 Function : This proteoglycan is a major component of extracellular matrix of cartilagenous tissues.A major function of this protein is to resist compression in cartilage. It binds avidly tohyaluronic acid via an N-terminal globular region
15 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Acan) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ACAN
(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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Gene Network CentralTM Interacting Genes and Proteins Network for ACAN 5/62 Interacting proteins for ACAN (ENSP00000268134 3 ) via UniProtKB, MINT, and/or STRING (see all 62
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for ACAN (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 ACAN 10/20 Novoseek chemical compound relationships for ACAN gene (see all 20
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
keratan sulfate
77.85
13
14613270 (1), 7556944 (1), 1569188 (1), 10399179 (1) (see all 9 )
neurocan
73.46
6
11038354 (2), 15590670 (1), 8907541 (1), 7806222 (1) (see all 5 )
chondroitin sulfate
68.56
22
1339285 (3), 16425147 (3), 8226878 (2), 9153261 (1) (see all 10 )
glycosaminoglycan
68.50
16
16188468 (2), 18040638 (1), 9854027 (1), 15727891 (1) (see all 9 )
adamalysin
67.85
1
17430884 (1)
dermatan
58.40
2
11474365 (1), 12859055 (1)
tgf beta1
48.95
2
18040638 (1), 15979007 (1)
chondroitin
48.63
3
1569188 (1), 18279833 (1), 11474365 (1)
procollagen
45.85
11
9706207 (5), 10459751 (2), 7949393 (1), 7822417 (1) (see all 5 )
cesium chloride
36.84
1
1569188 (1)
About this table
Transcripts for ACAN(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
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001135 Sigma-Aldrich siRNA for ACAN Sigma-Aldrich shRNA for ACAN Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001135 NM_013227
REFSEQ mRNAs for ACAN gene (2 alternative transcripts): NM_001135.2 NM_013227.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001135 NM_013227
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001135                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001135                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001135  
Additional cDNA sequence: U13192.1 XM_001714575.1
11 DOTS entries : DT.97847777 DT.99998115 DT.100817712 DT.99944820 DT.99953727 DT.99947875 DT.95157471 DT.75118357 DT.99950347 DT.95302403 DT.99950968
24/206 AceView cDNA sequences (see all 206
):BQ183753 X80278 BQ182672 BQ181248 AI057257 CA445896 BQ044975 CA447468 BF345576 AU279625 BQ181814 BQ182050 BQ004267 CA411752 BQ007885 CA448514 BQ182258 L12234 CA445816 CN479731 AI340067 CN480007 BQ446640 AI312888
Unigene Clusters for ACAN: Aggrecan Hs.2159 [show with all ESTs ] , Hs.711491 [show with all ESTs ] Unigene Representative Sequences: NM_013227 , XM_001714575 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ACAN (see all 7
) ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ SP1 :         -   -   -                   -             -   -         SP2 :         -   -   -                                         SP3 :                                             -         SP4 :                                           -   -         SP5 :             -                                        
ExUns: 20 ^ 21a · 21b SP1 : -       SP2 :       SP3 :       SP4 :       SP5 :      
About this scheme ECgene alternative splicing isoforms for ACAN 3 Ensembl transcripts including schematic representations : ENST00000268134
ENST00000338824
ENST00000352105
Expression for ACAN
(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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ACAN expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACAN 1 / 2
10 probe-sets matching ACAN gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene clusters: Hs.2159 Hs.711491 UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112 Tissue specificity : Restricted to cartilages
Orthologs for ACAN
(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 ACAN gene from 1 species
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
mouse (Mus musculus)
Acan5
7 (39.00 cM)
aggrecan
--
X80279
About this table Species with no ortholog for ACAN ENSEMBL Gene Tree for ACAN Paralogs for ACAN (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACAN gene BCAN 2 VCAN 2
SNPs/Variants for ACAN (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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HapMap Linkage Disequilibrium images for ACAN (up to first 250kb)
Disorders & Mutations for ACAN
(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: 155760 disorders : 608361 UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112
Defects in ACAN are the cause of spondyloepiphyseal dysplasia type Kimberley (SEDK)[MIM:608361]. Spondyloepiphyseal dysplasias are a heterogeneous group of congenitalchondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK isassociated with premature degenerative arthropathy
10/17 Novoseek disease relationships for ACAN gene (see all 17
)
About this table Human Gene Mutation Database : ACAN Human Genome Epidemiology Navigator: ACAN (8 documents)
Medical News for ACAN (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ACAN (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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10/285 PubMed articles for ACAN gene (see all 285
): Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. (PubMed id 1985970) 1, 2, 3, 4 Doege K.J.... Yamada Y. (1991) A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (PubMed id 16080123) 1, 3, 4 Gleghorn L.... Wallis G. (2005) 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. (PubMed id 1569188) 1, 3, 4 Sandy J.D.... Lohmander L.S. (1992) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 3, 4 Liu T.... Smith R.D. (2005) Age-related changes in the content of the C-terminal region of aggrecan in human articular cartilage. (PubMed id 8611178) 3, 4 Dudhia J....Bayliss M.T. (1996) Catabolism of aggrecan by explant cultures of human articular cartilage in the presence of retinoic acid. (PubMed id 7574678) 3, 4 Ilic M.Z....Handley C.J. (1995) Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes. (PubMed id 7524681) 3, 4 Glumoff V.... Vuorio E. (1994) Length variation in the keratan sulfate domain of mammalian aggrecan. (PubMed id 7827755) 3, 4 Barry F.P.... Pearson D. (1994) 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. (PubMed id 2789216) 3, 4 Baldwin C.T.... Prockop D.J. (1989) The involvement of aggrecan polymorphism in degeneration of human intervertebral disc and articular cartilage. (PubMed id 16425147) 1, 3 Roughley P....Antoniou J. (2006)
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Genome Databases showing ACAN
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ACAN
(According to HUGE )
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--
Specialized Databases showing ACAN (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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Name Description
Functional Glycomics Gateway - Glycan Binding http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_351
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-- Services for ACAN (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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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009