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Aliases for CILP Gene

Aliases for CILP Gene

  • Cartilage Intermediate Layer Protein 2 3 5
  • Cartilage Intermediate Layer Protein, Nucleotide Pyrophosphohydrolase 2 3
  • Cartilage Intermediate-Layer Protein 3 4
  • CILP-1 3 4
  • Cartilage Intermediate Layer Protein 1 C1 3
  • Cartilage Intermediate Layer Protein 1 C2 3
  • HsT18872 3

External Ids for CILP Gene

Previous GeneCards Identifiers for CILP Gene

  • GC15M061331
  • GC15M058587
  • GC15M063068
  • GC15M063204
  • GC15M063275
  • GC15M065488
  • GC15M042312

Summaries for CILP Gene

Entrez Gene Summary for CILP Gene

  • 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]

GeneCards Summary for CILP Gene

CILP (Cartilage Intermediate Layer Protein) is a Protein Coding gene. Diseases associated with CILP include intervertebral disc disease and osteoarthritis. GO annotations related to this gene include alkaline phosphatase activity and nucleotide diphosphatase activity. An important paralog of this gene is CILP2.

UniProtKB/Swiss-Prot for CILP Gene

  • 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.

Gene Wiki entry for CILP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CILP Gene

Genomics for CILP Gene

Regulatory Elements for CILP Gene

Enhancers for CILP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CILP on UCSC Golden Path with GeneCards custom track

Genomic Location for CILP Gene

Chromosome:
15
Start:
65,194,758 bp from pter
End:
65,211,502 bp from pter
Size:
16,745 bases
Orientation:
Minus strand

Genomic View for CILP Gene

Genes around CILP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CILP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CILP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CILP Gene

Proteins for CILP Gene

  • Protein details for CILP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75339-CILP1_HUMAN
    Recommended name:
    Cartilage intermediate layer protein 1
    Protein Accession:
    O75339
    Secondary Accessions:
    • B2R8F7
    • Q6UW99
    • Q8IYI5

    Protein attributes for CILP Gene

    Size:
    1184 amino acids
    Molecular mass:
    132565 Da
    Quaternary structure:
    • Monomer. Interacts with TGFB1.
    Miscellaneous:
    • Antibodies against CILP are detected in patients with early-stage knee osteoarthritis and rheumatoid arthritis.

neXtProt entry for CILP Gene

Proteomics data for CILP Gene at MOPED

Post-translational modifications for CILP Gene

  • Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.
  • Glycosylation at Thr 96, Thr 97, Thr 105, Asn 129, Asn 132, Asn 346, Asn 420, Asn 550, Asn 631, Asn 1000, Asn 1056, and Ser 1140
  • Modification sites at PhosphoSitePlus

Other Protein References for CILP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CILP Gene

Domains & Families for CILP Gene

Gene Families for CILP Gene

Suggested Antigen Peptide Sequences for CILP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75339

UniProtKB/Swiss-Prot:

CILP1_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 TSP type-1 domain.
genes like me logo Genes that share domains with CILP: view

Function for CILP Gene

Molecular function for CILP Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004551 NOT nucleotide diphosphatase activity IDA 12746903
genes like me logo Genes that share ontologies with CILP: view
genes like me logo Genes that share phenotypes with CILP: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CILP Gene

Localization for CILP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CILP Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CILP Gene COMPARTMENTS Subcellular localization image for CILP gene
Compartment Confidence
extracellular 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 9722584
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with CILP: view

Pathways & Interactions for CILP Gene

SuperPathways for CILP Gene

No Data Available

Interacting Proteins for CILP Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261883%0d%0a9606.ENSP00000221930%0d%0a9606.ENSP00000451211%0d%0a9606.ENSP00000308450%0d%0a
Selected Interacting proteins: ENSP00000261883 for CILP Gene via STRING

Gene Ontology (GO) - Biological Process for CILP Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CILP Gene

Drugs & Compounds for CILP Gene

(2) Drugs for CILP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CILP: view

Transcripts for CILP Gene

mRNA/cDNA for CILP Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(104) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CILP Gene

Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CILP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2:
SP3:

Relevant External Links for CILP Gene

GeneLoc Exon Structure for
CILP
ECgene alternative splicing isoforms for
CILP

Expression for CILP Gene

mRNA expression in normal human tissues for CILP Gene

mRNA differential expression in normal tissues according to GTEx for CILP Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x5.3) and Adipose - Subcutaneous (x5.2).

Protein differential expression in normal tissues from HIPED for CILP Gene

This gene is overexpressed in Cervix (21.0), Testis (15.0), Breast (10.6), and Lung (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CILP Gene



SOURCE GeneReport for Unigene cluster for CILP Gene Hs.442180

mRNA Expression by UniProt/SwissProt for CILP Gene

O75339-CILP1_HUMAN
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.
genes like me logo Genes that share expression patterns with CILP: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CILP Gene

Orthologs for CILP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CILP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CILP 35
  • 88.1 (n)
  • 88.79 (a)
CILP 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CILP 35
  • 89.44 (n)
  • 90.88 (a)
CILP 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cilp 35
  • 87.32 (n)
  • 91.26 (a)
Cilp 16
Cilp 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CILP 35
  • 99.55 (n)
  • 99.58 (a)
CILP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cilp 35
  • 86.63 (n)
  • 89.53 (a)
oppossum
(Monodelphis domestica)
Mammalia CILP 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CILP 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CILP 35
  • 68.4 (n)
  • 71.12 (a)
CILP 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CILP 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cilp 35
  • 64.94 (n)
  • 68.01 (a)
Str.12721 35
zebrafish
(Danio rerio)
Actinopterygii cilp 35
  • 63.79 (n)
  • 64.08 (a)
Dr.27649 35
cilp 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4324 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for CILP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CILP Gene

ENSEMBL:
Gene Tree for CILP (if available)
TreeFam:
Gene Tree for CILP (if available)

Paralogs for CILP Gene

Paralogs for CILP Gene

(1) SIMAP similar genes for CILP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CILP: view

Variants for CILP Gene

Sequence variations from dbSNP and Humsavar for CILP Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs2585033 - 65,207,030(-) AACAT(G/T)GTTCA reference, missense
VAR_022769 -
rs2073711 - 65,201,874(-) TGTCA(C/T)AGGTA reference, missense
rs2679118 - 65,198,563(+) GGGCT(C/T)TTTCC reference, missense
VAR_022772 -

Variation tolerance for CILP Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.73; 94.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CILP Gene

HapMap Linkage Disequilibrium report
CILP
Human Gene Mutation Database (HGMD)
CILP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CILP Gene

Disorders for CILP Gene

MalaCards: The human disease database

(7) MalaCards diseases for CILP Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intervertebral disc disease
  • lumbar disc herniation
osteoarthritis
  • arthropathy
familial calcium pyrophosphate deposition
  • calcium pyrophosphate deposition disease
lymphangitis
  • lymphangitis nos
bone deterioration disease
- elite association - COSMIC cancer census association via MalaCards
Search CILP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CILP1_HUMAN
  • 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. {ECO:0000269 PubMed:15864306}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. {ECO:0000269 PubMed:15864306}.

Relevant External Links for CILP

Genetic Association Database (GAD)
CILP
Human Genome Epidemiology (HuGE) Navigator
CILP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CILP
genes like me logo Genes that share disorders with CILP: view

No data available for Genatlas for CILP Gene

Publications for CILP Gene

  1. Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase. (PMID: 9722584) Lorenzo P. … Heinegaerd D. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. (PMID: 9722583) Lorenzo P. … Heinegaerd D. (J. Biol. Chem. 1998) 2 3 23
  3. The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. (PMID: 19569011) Min S.K. … Hiranuma K. (Int J Sports Med 2009) 3 23
  4. Phenotypic and population differences in the association between CILP and lumbar disc disease. (PMID: 17220213) Virtanen I.M. … Chan D. (J. Med. Genet. 2007) 3 23
  5. Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene. (PMID: 16413503) Mori M. … Ikegawa S. (Biochem. Biophys. Res. Commun. 2006) 3 23

Products for CILP Gene

Sources for CILP Gene

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