Mus musculus Protein: Acan | |||||||||||
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Summary | |||||||||||
InnateDB Protein | IDBP-193559.6 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | Acan | ||||||||||
Protein Name | aggrecan | ||||||||||
Synonyms | Agc; Agc1; b2b183Clo; cmd; Cspg1; | ||||||||||
Species | Mus musculus | ||||||||||
Ensembl Protein | ENSMUSP00000032835 | ||||||||||
InnateDB Gene | IDBG-193557 (Acan) | ||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||
Function | 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. May play a regulatory role in the matrix assembly of the cartilage. | ||||||||||
Subcellular Localization | Secreted, extracellular space, extracellular matrix {ECO:0000250}. | ||||||||||
Disease Associations | Note=Defects in Acan are the cause of cartilage matrix deficiency (CMD). CMD is an autosomal recessive syndrome characterized by cleft palate, short limbs, tail and snout. Mutation in strain CMD causes absence of aggrecan by truncation of the protein (mutation in the G1 domain). | ||||||||||
Tissue Specificity | Specifically expressed in cartilage tissues. {ECO:0000269PubMed:7524681}. | ||||||||||
Comments | |||||||||||
Interactions | |||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||
PDB ID | MGI:99602 | ||||||||||
InterPro |
IPR000436
Sushi/SCR/CCP IPR000538 Link IPR001304 C-type lectin IPR003596 Immunoglobulin V-set, subgroup IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013106 Immunoglobulin V-set domain IPR016187 C-type lectin fold |
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PFAM |
PF00084
PF00193 PF00059 PF07686 |
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PRINTS |
PR01265
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PIRSF | |||||||||||
SMART |
SM00032
SM00445 SM00034 SM00406 SM00409 |
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TIGRFAMs | |||||||||||
Post-translational Modifications | |||||||||||
Modification | |||||||||||
Cross-References | |||||||||||
SwissProt | Q61282 | ||||||||||
PhosphoSite | PhosphoSite-Q61282 | ||||||||||
TrEMBL | |||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | 11595 | ||||||||||
UniGene | Mm.401187 | ||||||||||
RefSeq | NP_031450 | ||||||||||
MGI ID | |||||||||||
MGI Symbol | Acan | ||||||||||
OMIM | |||||||||||
CCDS | CCDS21377 | ||||||||||
HPRD | |||||||||||
IMGT | |||||||||||
EMBL | AC110520 L07049 S73721 S73722 | ||||||||||
GenPept | AAB32160 AAC37670 | ||||||||||