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ACAN aggrecan [ Homo sapiens (human) ]

Gene ID: 176, updated on 30-Jun-2015
Official Symbol
ACANprovided by HGNC
Official Full Name
aggrecanprovided by HGNC
Primary source
HGNC: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]
Orthologs
See ACAN in Epigenomics, MapViewer
Location:
15q26.1
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 interferon stimulated exonuclease gene 20kDa Neighboring gene uncharacterized LOC105370960 Neighboring gene hyaluronan and proteoglycan link protein 3 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
Compare labs
Spondyloepimetaphyseal dysplasia, Aggrecan type
MedGen: C2748544 OMIM: 612813 GeneReviews: Not available
Compare labs
Spondyloepiphyseal dysplasia, kimberley type
MedGen: C1842149 OMIM: 608361 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 20 loci that influence adult height.
NHGRI GWA Catalog
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
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 Interaction Database

  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
  • phenylacetate degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylacetate degradation I (aerobic), organism-specific biosystemPhenylacetate is a common source of carbon and energy for a variety of microorganisms, including Pseudomonas and E. coli. Of the E. coli K-12 strains, MG1655, W3110, C600 and others are able to util...
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
PubMed 
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
cartilage-specific proteoglycan core protein
chondroitin sulfate proteoglycan core protein 1
large aggregating proteoglycan

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 RefSeqGene

    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

    See identical proteins and their annotated locations for NP_001126.3

    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
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd03588
    Location:22822405
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    IG_like; Immunoglobulin like
    cd03517
    Location:153247
    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
    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
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:24472503
    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
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    IG_like; Immunoglobulin like
    cd00054
    Location:22832313
    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
    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
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    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
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:24852541
    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
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    IG_like; Immunoglobulin like
    cd00054
    Location:23162352
    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
    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
    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. XM_011521313.1XP_011519615.1  

    Conserved Domains (7) summary
    cd05900
    Location:43154
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:24472503
    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
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    IG_like; Immunoglobulin like
    cd00054
    Location:22782314
    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
    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
    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 ...
  3. XM_011521314.1XP_011519616.1  

    Related
    ENSP00000453499, OTTHUMP00000248559, ENST00000559004, OTTHUMT00000418839
    Conserved Domains (6) summary
    cd05900
    Location:43154
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:24092465
    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:22822405
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    smart00410
    Location:36150
    IG_like; Immunoglobulin like
    cd03517
    Location:153247
    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
    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 CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

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