| Gene Symbol |
CILP
|
| Entrez Gene |
8483
|
| Alt Symbol |
CILP-1, HsT18872
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
|
| Other Description |
cartilage intermediate layer protein 1|cartilage intermediate layer protein 1 C1|cartilage intermediate layer protein 1 C2|cartilage intermediate-layer protein
|
| Swissprots |
Q8IYI5 O75339 B2R8F7 Q6UW99
|
| Accessions |
AAF14689 BAA76692 EAW77717 O75339 AF035408 AAC33838 AK225652 AK225926 AK313352 BAG36154 AL602624 AY358904 AAQ89263 BC035776 AAH35776 CA503413 DB071945 DQ891272 ABM82198 DQ894460 ABM85386 NM_003613 NP_003604
|
| Function |
Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage. {ECO:0000269|PubMed:12746903, ECO:0000269|PubMed:15864306}.
|
| Subcellular Location |
Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:15864306}.
|
| Tissue Specificity |
Specifically expressed in cartilage. Localizes in the intermediates layer of articular cartilage but neither in the superficial nor in the deepest regions. Specifically and highly expressed in intervertebral disk tissue. Expression increases with aging in hip articular cartilage. Overexpressed in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease (CPPD). Expression in intervertebral disk tissue from individuals with lumbar disk disease increases as disk degeneration progresses. {ECO:0000269|PubMed:12483726, ECO:0000269|PubMed:15864306, ECO:0000269|PubMed:9722583, ECO:0000269|PubMed:9722584}.
|