Homo sapiens Gene: CILP | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-17139.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CILP | ||||||||||||||||||
Gene Name | cartilage intermediate layer protein, nucleotide pyrophosphohydrolase | ||||||||||||||||||
Synonyms | CILP-1; HsT18872 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000138615 | ||||||||||||||||||
Encoded Proteins |
cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 15:65194758-65211488 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q22.31 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||
SwissProt | O75339 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 8483 | ||||||||||||||||||
UniGene | Hs.442180 | ||||||||||||||||||
RefSeq | NM_003613 | ||||||||||||||||||
HUGO | HGNC:1980 | ||||||||||||||||||
OMIM | 603489 | ||||||||||||||||||
CCDS | CCDS10203 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB022430 AC068213 AF035408 AF035448 AF035449 AF035451 AF035453 AF035455 AK313352 AY358904 BC035776 | ||||||||||||||||||
GenPept | AAC33838 AAF14689 AAH35776 AAQ89263 BAA76692 BAG36154 | ||||||||||||||||||
RNA Seq Atlas | 8483 | ||||||||||||||||||