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ACAN aggrecan [ Homo sapiens (human) ]

Gene ID: 176, updated on 29-Jul-2014
Official Symbol
ACANprovided by HGNC
Official Full Name
aggrecanprovided by HGNC
Primary source
HGNC:319
See related
Ensembl:ENSG00000157766; HPRD:01123; MIM:155760; Vega:OTTHUMG00000171989
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP
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, Jul 2008]
See ACAN in Epigenomics, MapViewer
Location:
15q26.1
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (88803442..88875354)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89346674..89418585)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene apoptosis enhancing nuclease Neighboring gene interferon stimulated exonuclease gene 20kDa Neighboring gene hyaluronan and proteoglycan link protein 3 Neighboring gene uncharacterized LOC102724554 Neighboring gene milk fat globule-EGF factor 8 protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Osteochondritis dissecans
MedGen: C0029421 OMIM: 165800 GeneReviews: Not available
not available
Spondyloepimetaphyseal dysplasia, Aggrecan type
MedGen: C2748544 OMIM: 612813 GeneReviews: Not available
not available
Spondyloepiphyseal dysplasia, kimberley type
MedGen: C1842149 OMIM: 608361 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 20 loci that influence adult height.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-Tat peptide interferes with polyamine uptake via competition for proteoglycan binding sites rather than a putative downstream transporter in human carcinoma cells PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystem
    Endochondral Ossification
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
  • Keratan sulfate degradation, organism-specific biosystem (from REACTOME)
    Keratan sulfate degradation, organism-specific biosystemKeratan sulfate proteoglycans (KSPGs) are degraded in lysosomes as part of normal homeostasis of glycoproteins. Glycoproteins must be completely degraded to avoid undigested fragments building up and...
  • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
    Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
  • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
    MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
  • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
    MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
  • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
    MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
  • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
    MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
  • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
    MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
  • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
    MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
  • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
  • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
  • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
    MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
  • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
    MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
  • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
    MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
    Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
keratan sulfate catabolic process TAS
Traceable Author Statement
more info
 
keratan sulfate metabolic process TAS
Traceable Author Statement
more info
 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
skeletal system development NAS
Non-traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
aggrecan core protein
Names
aggrecan core protein
large aggregating proteoglycan
cartilage-specific proteoglycan core protein
chondroitin sulfate proteoglycan core protein 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012794.1 

    Range
    5001..76912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135.3NP_001126.3  aggrecan core protein isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks two different segments in the C-terminus, compared to variant 2. The resulting protein (isoform 1) is shorter when it is compared to isoform 2 and lacks the EGF-like and CRP-like domains found in isoform 2.
    Source sequence(s)
    AC103982
    Consensus CDS
    CCDS53971.1
    UniProtKB/TrEMBL
    E7ENV9
    Related
    ENSP00000341615, OTTHUMP00000248790, ENST00000352105, OTTHUMT00000416269
    Conserved Domains (5) summary
    cd05900
    Location:43154
    Blast Score: 548
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd03588
    Location:22822405
    Blast Score: 791
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    Blast Score: 114
    IG_like; Immunoglobulin like
    cd03517
    Location:153247
    Blast Score: 522
    Link_domain_CSPGs_modules_1_3; Link_domain_CSPGs_modules_1_3; this extracellular link domain is found in the first and third link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan. In addition, it is found in the first link module of three other CSPGs: ...
    cd03520
    Location:254349
    Blast Score: 519
    Link_domain_CSPGs_modules_2_4; Link_domain_CSPGs_modules_2_4; this link domain is found in the second and fourth link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan and, in the second link module of three other CSPGs: versican, neurocan, and brevican. The ...
  2. NM_013227.3NP_037359.3  aggrecan core protein isoform 2 precursor

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AC103982
    Consensus CDS
    CCDS53970.1
    UniProtKB/TrEMBL
    E7EX88
    Related
    ENSP00000387356, ENST00000439576
    Conserved Domains (7) summary
    cd05900
    Location:43154
    Blast Score: 549
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:24472503
    Blast Score: 148
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd03588
    Location:23202443
    Blast Score: 791
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    Blast Score: 114
    IG_like; Immunoglobulin like
    cd00054
    Location:22832313
    Blast Score: 112
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd03517
    Location:153247
    Blast Score: 522
    Link_domain_CSPGs_modules_1_3; Link_domain_CSPGs_modules_1_3; this extracellular link domain is found in the first and third link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan. In addition, it is found in the first link module of three other CSPGs: ...
    cd03520
    Location:254349
    Blast Score: 517
    Link_domain_CSPGs_modules_2_4; Link_domain_CSPGs_modules_2_4; this link domain is found in the second and fourth link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan and, in the second link module of three other CSPGs: versican, neurocan, and brevican. The ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    88803442..88875354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720419.1XP_006720482.1  

    Conserved Domains (7) summary
    cd05900
    Location:43154
    Blast Score: 549
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:24852541
    Blast Score: 147
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd03588
    Location:23582481
    Blast Score: 791
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    Blast Score: 114
    IG_like; Immunoglobulin like
    cd00054
    Location:23162352
    Blast Score: 155
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd03517
    Location:153247
    Blast Score: 522
    Link_domain_CSPGs_modules_1_3; Link_domain_CSPGs_modules_1_3; this extracellular link domain is found in the first and third link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan. In addition, it is found in the first link module of three other CSPGs: ...
    cd03520
    Location:254349
    Blast Score: 517
    Link_domain_CSPGs_modules_2_4; Link_domain_CSPGs_modules_2_4; this link domain is found in the second and fourth link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan and, in the second link module of three other CSPGs: versican, neurocan, and brevican. The ...

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    65458891..65530587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    89188178..89259230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)