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Protein Page:
ACAN (human)

Overview
ACAN 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 to hyaluronic acid via an N-terminal globular region. Defects in ACAN are the cause of spondyloepiphyseal dysplasia type Kimberley (SEDK). 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. Defects in ACAN are the cause of spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN). 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. Defects in ACAN are the cause of osteochondritis dissecans short stature and early-onset osteoarthritis (OD). 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. Belongs to the aggrecan/versican proteoglycan family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Secreted, signal peptide; Extracellular matrix; Cell adhesion; Secreted
Cellular Component: extracellular matrix; lysosomal lumen; proteinaceous extracellular matrix; Golgi lumen; extracellular region
Molecular Function: protein binding; extracellular matrix structural constituent; metal ion binding; hyaluronic acid binding; carbohydrate binding
Biological Process: keratan sulfate metabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; glycosaminoglycan metabolic process; carbohydrate metabolic process; keratan sulfate biosynthetic process; keratan sulfate catabolic process; proteolysis; cell adhesion; skeletal development
Reference #:  P16112 (UniProtKB)
Alt. Names/Synonyms: ACAN; AGC1; AGCAN; aggrecan; Aggrecan core protein; Aggrecan core protein 2; Cartilage-specific proteoglycan core protein; Chondroitin sulfate proteoglycan 1; Chondroitin sulfate proteoglycan core protein 1; CSPCP; CSPG1; CSPGCP; large aggregating proteoglycan; MSK16; PGCA; SEDK
Gene Symbols: ACAN
Molecular weight: 250,193 Da
Basal Isoelectric point: 4.1  Predict pI for various phosphorylation states
Select Structure to View Below

ACAN

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 Y100-p RVRVNSAyQDKVSLP
0 1 Y131-p RSNDSGVyRCEVMHG
0 1 S540-p TVRYPIVsPRTPCVG
0 1 S1452-p SEVGTDLsGLPsGRE
0 1 S1456-p TDLsGLPsGREGLET
0 1 A1748 SGLPSGEADLSGKSG
0 1 S1780 TSQTPEFSGLPSGIA
0 1 S1784 PEFSGLPSGIAEVSG
0 1 S1790 PSGIAEVSGESSRAE
0 1 S2157-p SPEWKREsEstAAAP
0 1 S2159-p EWKREsEstAAAPAR
0 1 T2160-p WKREsEstAAAPARS
0 1 Y2394 TCTDATTYKRRLQKR
  ACAN iso3  
Y100 RVRVNSAYQDKVSLP
Y131 RSNDSGVYRCEVMHG
S540 TVRYPIVSPRTPCVG
S1452 SEVGTDLSGLPSGRE
S1456 TDLSGLPSGREGLET
A1748 SGLPSGEADLSGKSG
S1780 TSQTPEFSGLPSGIA
S1784 PEFSGLPSGIAEVSG
S1790 PSGIAEVSGESSRAE
S2157 SPEWKRESESTAADQ
S2159 EWKRESESTAADQEV
T2160 WKRESESTAADQEVC
Y2295-p KKGTATTyKRRLQKR
  mouse

 
Y100 QVRVNSIYQDKVSLP
Y131 RSNDSGIYRCEVMHG
S549 TVRYPIVSPRTPCVG
S1186 SGVGDDFSGLPSGKE
S1190 DDFSGLPSGKEGLET
T1501-p SGFPSGEtELSGTSG
S1533-p TSPTPEFsGLPsGVA
S1537-p PEFsGLPsGVAEVsG
S1543-p PsGVAEVsGEFSGVE
T1912 SSEGSGETESTVADQ
S1914 EGSGETESTVADQEQ
T1915 GSGETESTVADQEQC
Y2111 TCTDPNTYKHRLQKR
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