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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
  • CILP-1 3 4
  • Cartilage Intermediate Layer Protein 1 C1 3
  • Cartilage Intermediate Layer Protein 1 C2 3
  • Cartilage Intermediate Layer Protein 1 3
  • Cartilage Intermediate-Layer Protein 4
  • 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. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (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

Additional gene information for CILP Gene

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

Genomics for CILP Gene

GeneHancer (GH) Regulatory Elements for CILP Gene

Promoters and enhancers for CILP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I065209 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 +0.4 419 2.2 HDAC1 ZNF2 RAD21 TCF12 GLIS2 EGR1 ZNF143 ATF7 CREM NCOA1 CILP PARP16 GC15P069458 GC15P069459 GC15P069460 GC15P069462 GC15P069464 PIR37257 GC15P069466 GC15P069465
GH15I065212 Enhancer 0.8 ENCODE 550.8 -0.7 -743 0 HDAC1 ZNF2 RAD21 TCF12 EGR1 ZNF143 ATF7 CREM NCOA1 REST CILP GC15M065227 ENSG00000279268
GH15I065303 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 28.7 -93.0 -92969 2.2 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC GC15P068442 RNU5B-1 GC15M065305 PARP16 ZNF609 TRIP4 INTS14 PDCD7 SLC24A1 ENSG00000264937
GH15I065295 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 18 -85.9 -85865 4.1 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 GC15P068518 RNU5A-1 PARP16 INTS14 ZNF609 TRIP4 ENSG00000264937 ENSG00000259635 PDCD7 CSNK1G1
GH15I065183 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 +26.7 26740 3 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF766 CBX5 ZNF207 CLPX GC15P069458 GC15P069459 GC15P069460 GC15P069461 GC15P069466 PIR37257 GC15P069465 GC15P069464 GC15P069462
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CILP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CILP gene promoter:

Genomic Locations for CILP Gene

Genomic Locations for CILP Gene
chr15:65,194,758-65,211,502
(GRCh38/hg38)
Size:
16,745 bases
Orientation:
Minus strand
chr15:65,488,337-65,503,840
(GRCh37/hg19)

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

Post-translational modifications for CILP Gene

  • Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.
  • Glycosylation at Thr96, Thr97, posLast=105105, posLast=129129, Asn132, Asn346, posLast=420420, posLast=550550, posLast=631631, posLast=10001000, posLast=10561056, and posLast=11401140

Other Protein References for CILP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CILP Gene

Domains & Families for CILP Gene

Gene Families for CILP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CILP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CILP Gene

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.

Phenotypes From GWAS Catalog for CILP Gene

Gene Ontology (GO) - Molecular Function for CILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004035 NOT alkaline phosphatase activity IDA 12746903
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 9722584
GO:0031012 extracellular matrix IDA 9722583
GO:0070062 extracellular exosome HDA,IDA 23533145
genes like me logo Genes that share ontologies with CILP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CILP Gene

Pathways & Interactions for CILP Gene

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

Pathways by source for CILP Gene

Interacting Proteins for CILP Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261883%0d%0a9606.ENSP00000221930%0d%0a9606.ENSP00000325875%0d%0a9606.ENSP00000335153%0d%0a
Selected Interacting proteins: ENSP00000261883 O75339-CILP1_HUMAN for CILP Gene via STRING IID

Gene Ontology (GO) - Biological Process for CILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway IDA 12746903
genes like me logo Genes that share ontologies with CILP: view

No data available for SIGNOR curated interactions for CILP Gene

Drugs & Compounds for CILP Gene

(1) Drugs for CILP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for CILP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CILP: view

Transcripts for CILP Gene

mRNA/cDNA for CILP Gene

Unigene Clusters for CILP Gene

Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CILP Gene



NURSA nuclear receptor signaling pathways regulating expression of CILP Gene:

CILP

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

No data available for Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CILP 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia CILP 33 34
  • 89.44 (n)
cow
(Bos Taurus)
Mammalia CILP 33 34
  • 88.1 (n)
mouse
(Mus musculus)
Mammalia Cilp 33 16 34
  • 87.32 (n)
rat
(Rattus norvegicus)
Mammalia Cilp 33
  • 86.63 (n)
oppossum
(Monodelphis domestica)
Mammalia CILP 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CILP 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CILP 33 34
  • 68.4 (n)
lizard
(Anolis carolinensis)
Reptilia CILP 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cilp 33
  • 64.94 (n)
Str.12721 33
zebrafish
(Danio rerio)
Actinopterygii cilp 33 34
  • 63.79 (n)
Dr.27649 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4324 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for CILP was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs2073711 risk-factor, Lumbar disc disease, susceptibility to 65,201,874(-) A/G coding_sequence_variant, missense_variant
rs1000004789 -- 65,206,722(-) C/G intron_variant
rs1000037823 -- 65,196,134(-) G/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000214808 -- 65,212,014(-) C/T upstream_transcript_variant
rs1000410232 -- 65,196,537(-) G/A 3_prime_UTR_variant

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)

Additional Variant Information for CILP Gene

Human Gene Mutation Database (HGMD)
CILP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intervertebral disc disease
  • idd
osteoarthritis
  • kashin-beck disease
familial calcium pyrophosphate deposition
  • calcium pyrophosphate arthropathy
back pain
lymphangitis
- 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}.

Additional Disease Information for CILP

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

No data available for Genatlas for CILP Gene

Publications for CILP Gene

  1. A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. (PMID: 9722583) Lorenzo P … Heinegård D (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase. (PMID: 9722584) Lorenzo P … Heinegård D (The Journal of biological chemistry 1998) 2 3 4 22 58
  3. The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. (PMID: 19569011) Min SK … Hiranuma K (International journal of sports medicine 2009) 3 22 44 58
  4. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. (PMID: 16453284) Valdes AM … Spector TD (Arthritis and rheumatism 2006) 3 22 44 58
  5. The prevalence of autoantibodies against cartilage intermediate layer protein, YKL-39, osteopontin, and cyclic citrullinated peptide in patients with early-stage knee osteoarthritis: evidence of a variety of autoimmune processes. (PMID: 15378262) Du H … Kato T (Rheumatology international 2005) 3 4 22 58

Products for CILP Gene

Sources for CILP Gene

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