SUBUNIT: Interacts with FBLN1 (By similarity). Interacts with COMP.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=1; IsoId=P16112-1; Sequence=Displayed; Name=2; IsoId=P16112-2; Sequence=VSP_003074; Name=3; IsoId=P16112-3; Sequence=VSP_003074, VSP_003075;
TISSUE SPECIFICITY: Restricted to cartilages. DEVELOPMENTAL STAGE: Expression was detected in chondrocytes throughout the developing skeleton.
DOMAIN: Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
PTM: Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase.
DISEASE: Defects in ACAN are the cause of spondyloepiphyseal dysplasia type Kimberley (SEDK) [MIM:608361]. Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.
DISEASE: Defects in ACAN are the cause of spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]. A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.
DISEASE: Defects in ACAN are the cause of osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]. It is a type of osteochondritis defined as a separation of cartilage and subchondral bone from the surrounding tissue, primarily affecting the knee, ankle and elbow joints. It is clinically characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature and early-onset osteoarthritis.
SIMILARITY: Belongs to the aggrecan/versican proteoglycan family.
SIMILARITY: Contains 1 C-type lectin domain.
SIMILARITY: Contains 1 EGF-like domain.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
SIMILARITY: Contains 4 Link domains.
SIMILARITY: Contains 1 Sushi (CCP/SCR) domain. WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=Aggrecan; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_351";
GENE SYNONYMS: AGC1 CSPG1 MSK16.
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.