InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CILP

Summary

InnateDB Protein

IDBP-17141.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CILP

Protein Name

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase

Synonyms

CILP-1; HsT18872;

Species

Homo sapiens

Ensembl Protein

ENSP00000261883

InnateDB Gene

IDBG-17139 (CILP)

Protein Structure

UniProt Annotation

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:0000269PubMed:12746903, ECO:0000269PubMed:15864306}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:15864306}.

Disease Associations

Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to intervertebral disk disease, is conferred by variant p.Ile395Thr (PubMed:15864306). {ECO:0000269PubMed: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:0000269PubMed:12483726, ECO:0000269PubMed:15864306, ECO:0000269PubMed:9722583, ECO:0000269PubMed:9722584}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0043569

negative regulation of insulin-like growth factor receptor signaling pathway

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0031012	extracellular matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000884 Thrombospondin, type 1 repeat
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR008969 Carboxypeptidase-like, regulatory domain
IPR013098 Immunoglobulin I-set

PFAM

PF00090
PF07679

PRINTS

PIRSF

SMART

SM00209
SM00408
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O75339