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Acan aggrecan [ Mus musculus (house mouse) ]

Gene ID: 11595, updated on 27-Nov-2024

Summary

Official Symbol
Acanprovided by MGI
Official Full Name
aggrecanprovided by MGI
Primary source
MGI:MGI:99602
See related
Ensembl:ENSMUSG00000030607 AllianceGenome:MGI:99602
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Agc; cmd; Agc1; CSPCP; Cspg1; b2b183Clo
Summary
Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including cartilage development; collagen fibril organization; and proteoglycan biosynthetic process. Located in basement membrane. Is active in GABA-ergic synapse; glutamatergic synapse; and perisynaptic extracellular matrix. Is expressed in several structures, including embryo mesenchyme; inner ear; limb; lower jaw; and skeletal system. Used to study achondroplasia. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kimberley type. Orthologous to human ACAN (aggrecan). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in limb E14.5 (RPKM 40.6) and CNS E14 (RPKM 4.1) See more
Orthologs
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Genomic context

See Acan in Genome Data Viewer
Location:
7 D2; 7 44.88 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (78702974..78764847)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (79053226..79115099)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8179 Neighboring gene interferon-stimulated protein Neighboring gene predicted gene, 31213 Neighboring gene predicted gene, 26633 Neighboring gene STARR-seq mESC enhancer starr_19258 Neighboring gene hyaluronan and proteoglycan link protein 3 Neighboring gene milk fat globule EGF and factor V/VIII domain containing

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cartilage condensation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within chondrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
is_active_in perineuronal net IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in perineuronal net ISO
Inferred from Sequence Orthology
more info
 
is_active_in perisynaptic extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
aggrecan core protein
Names
aggrecan 1
cartilage-specific proteoglycan core protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001361500.1NP_001348429.1  aggrecan core protein isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC110520
    Conserved Domains (8) summary
    cd05900
    Location:43154
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:20872143
    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:19602083
    CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins
    cd00054
    Location:19181954
    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 ...
    cl25397
    Location:11711630
    AidA; Type V secretory pathway, adhesin AidA [Cell wall/membrane/envelope biogenesis, Intracellular trafficking, secretion, and vesicular transport]
    cl28033
    Location:6891027
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  2. NM_007424.3NP_031450.2  aggrecan core protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_031450.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC110520
    Consensus CDS
    CCDS21377.1
    UniProtKB/Swiss-Prot
    E9QLS9, Q61282, Q64021
    Related
    ENSMUSP00000032835.6, ENSMUST00000032835.7
    Conserved Domains (6) summary
    cd05900
    Location:43154
    Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan
    cd00033
    Location:20492105
    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:19222045
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    78702974..78764847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)