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FLASH GENE
Symbol ACAN contributors: mct/npt - updated : 03-12-2014
HGNC name aggrecan
HGNC id 319
Corresponding disease
FOD osteochondritis dissecans familial
SEDMA spondyloepiphyseal dysplasia, Kimberley type
Location 15q26.1      Physical location : 89.346.673 - 89.418.585
Synonym name
  • chondroitin sulfate proteoglycan 1
  • large aggregating proteoglycan
  • aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)
  • cartilage-specific proteoglycan core protein
  • Synonym symbol(s) CSPG1, CSPGCP, MSK16, AGC1, SEDK, AGCAN, CSPCP, AGN
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of paralogous genes on chromosomes 15 and 19
    STRUCTURE 71.91 kb     16 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map see TM6SF1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 8543 250.4 2431 moderately in skin and connective tissues, lowly in colon 2009 19298220
  • lacking two different segments in the C-terminus compared to variant 2
  • lacking the EGF-like and CRP-like domains
  • being the most predominant transcript
  • a 19 aa signal peptide of 2.1 kda
  • a 2298 aa mature peptide of 237.3 kda
  • 18 splicing 8840 261.3 2530 predominantly in connective tissues, highly in bone and moderately in trachea 2009 19298220
  • a 19 aa signal peptide of 2.1 kda
  • a 2397 aa mature peptide if 248.3 kda
  • containing the EGF-like and CRP-like domains in the C terminus
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text highly in developing cartilage, in the pre-hypertrophic zone of the growth plate (Aoyama 2009)
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • six calpain cleavage sites: one in the IGD
  • (interglobular domain), one in the KS (keratan sulfate) region, two
    in the CS1 and two in the CS2 region
  • a 19 aa signal peptide
  • an Ig-like V-type (immunoglobulin-like) domain
  • four Link domains
  • an EGF-like domain
  • a C-type lectin domain
  • a complement regulatory-like Sushi (CCP/SCR) domain
  • three globular domains (G1, G2 and G3) and a GAG-attachment domain to which multiple chondroitin sulfate and keratan sulfate chains are attached (Aoyama 2009)
  • a hydrophobic transmembrane segment (TM)
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Agc1
    homolog to C.elegans f40f4.6
    intraspecies paralog to CSPG3
    Homologene
    FAMILY
  • aggrecan/Versican proteoglycan family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    text
  • being a major component of extracellular matrix of cartilagenous tissues
  • is initially expressed within the growth plate but is lost during the course of calcification
  • basic FUNCTION
  • playing a role in the resistance to the compression in cartilage
  • major proteoglycan of the extracellular matrix in cartilage (Aoyama 2009)
  • playing a critical role in regulating matrix assembly (Stattin 2010)
  • plays an important role in the organization of the neural extracellular space by binding and organizing hyaluronan to the cell surface through interactions with link protein and tenascins forming a large aggregated quaternary complex
  • critical role for perineuronal nets and aggrecan in regulating developmental neural plasticity and in the recover from injury
  • chondroitin sulfate proteoglycan core protein aggrecan is the major protein constituent of cartilage aside from collagen, and is largely responsible for its distinctive mechanical properties
  • required both for proper cartilage formation in development and maintenance of mature cartilage
  • a major component of cartilage extracellular matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • skeletal development
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FBLN1
  • interacting with CTGF (may contribute to the physiological distribution of CCN2/CTGF in the growth plate of cartilage) (Aoyama 2009)
  • several enhancers contain potential binding sites for SOX9, consistent with its described role as an upstream regulator of ACAN expression
  • IL6 mediates suppression of ACAN and induction of MMP13 expression by NOTCH1 in chondrocytes
  • SHOX2 activates ACAN via its cooperation with SOX5, SOX6, SOX9 4)
  • cell & other
  • binding avidly to hyaluronic acid via an N-terminal globular region
  • binding to sugar
  • REGULATION
    activated by SOX9
    Other regulated by the cooperation of SHOX with the SOX trio (SOX5, SOX6 and SOX9) via the protein interaction between SOX5/SOX6 and SHOX
    ASSOCIATED DISORDERS
    corresponding disease(s) SEDMA , FOD
    Susceptibility to multiple disc degeneration in the subjects below the age of 40 years
    Variant & Polymorphism repeat carrying a copy of the allele with 21 repeats might increase the risk of multiple disc degeneration in the subjects below the age of 40 years
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Cmd (cartilage matrix deficiency) homologpus mice