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CILP Gene

protein-coding   GIFtS: 54
GCID: GC15M065488

Cartilage Intermediate Layer Protein, Nucleotide Pyrophosphohydrolase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cartilage Intermediate Layer Protein, Nucleotide
Pyrophosphohydrolase1 2
     Cartilage Intermediate Layer Protein 12
Cartilage Intermediate-Layer Protein2 3     Cartilage Intermediate Layer Protein 1 C12
CILP-12 3     Cartilage Intermediate Layer Protein 1 C22
HsT188722     

External Ids:    HGNC: 19801   Entrez Gene: 84832   Ensembl: ENSG000001386157   OMIM: 6034895   UniProtKB: O753393   

Export aliases for CILP gene to outside databases

Previous GC identifers: GC15M061331 GC15M058587 GC15M063068 GC15M063204 GC15M063275 GC15M042312


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, nucleotide pyrophosphohydrolase) is a protein-coding gene. Diseases associated with CILP include lymphangitis, and lumbar disc disease. GO annotations related to this gene include nucleotide diphosphatase activity and alkaline phosphatase activity. An important paralog of this gene is CILP2.

UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
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 Wiki entry for CILP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CILP gene promoter:
         GR   GR-beta   MyoD   Pax-2   Pax-2a   Tal-1beta   E47   Ik-2   Pax-2b   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCILP promoter sequence
   Search Chromatin IP Primers for CILP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CILP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22

CILP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CILP gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M065488:  view genomic region     (about GC identifiers)

Start:
65,488,337 bp from pter      End:
65,503,840 bp from pter
Size:
15,504 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339 (See protein sequence)
Recommended Name: Cartilage intermediate layer protein 1 precursor  
Size: 1184 amino acids; 132565 Da
Subunit: Monomer. Interacts with TGFB1
Miscellaneous: Antibodies against CILP are detected in patients with early-stage knee osteoarthritis and
rheumatoid arthritis
Caution: Was originally thought to constitute the ATP pyrophosphatase enzyme (NTPPH). However, it was later shown
(PubMed:12746903 and PubMed:15864306) that it is not the case
Secondary accessions: B2R8F7 Q6UW99 Q8IYI5

Explore the universe of human proteins at neXtProt for CILP: NX_O75339

Explore proteomics data for CILP at MOPED

Post-translational modifications: 

  • Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion1
  • Glycosylation2 at Thr96, Thr97, Thr105, Asn129, Asn132, Asn346, Asn420, Asn550, Asn631, Asn1000,
                                 Asn1056, Ser1135, Thr1136, Ser1140, Thr1145
  • Modification sites at PhosphoSitePlus

  • See CILP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003604.3  
    ENSEMBL proteins: 
     ENSP00000261883  

    CILP Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CILP
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    Novus Biologicals CILP Protein
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    Cloud-Clone Corp. Proteins for CILP

    CILP Antibody Products:

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    Abcam antibodies for CILP
    Cloud-Clone Corp. Antibodies for CILP
    Search ThermoFisher Antibodies for CILP
    LSBio Antibodies in human, mouse, rat for CILP

    CILP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CILP
    Cloud-Clone Corp. CLIAs for CILP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR008969 CarboxyPept-like_regulatory
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O75339

    ProtoNet protein and cluster: O75339

    2 Blocks protein domains:
    IPB001451 Bacterial transferase hexapeptide repeat
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 TSP type-1 domain


    CILP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CILP1_HUMAN, O75339
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004035NOT alkaline phosphatase activity IDA12746903
    GO:0004551NOT nucleotide diphosphatase activity IDA12746903
    GO:0005515protein binding ----
         
    CILP for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CILP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CILP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CILP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CILP

    miRNA
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    Block miRNA regulation of human, mouse, rat CILP using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CILP:
    hsa-miR-498 hsa-miR-489 hsa-miR-542-3p hsa-miR-26a hsa-miR-26b hsa-miR-197 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidCILP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CILP
    Predesigned siRNA for gene silencing in human, mouse, rat CILP

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CILP (see all 7)
    OriGene ORF clones in mouse, rat for CILP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CILP (NM_003613)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CILP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CILP

    Cell Line
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    ESI BIO PureStem Progenitor for CILP: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CILP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CILP1_HUMAN, O75339: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA12746903
    GO:0031012extracellular matrix IDA9722583

    CILP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CILP
    Interactions:

        GeneGlobe Interaction Network for CILP

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043569negative regulation of insulin-like growth factor receptor signaling pathway IDA12746903

    CILP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CILP (CILP1)

    1 HMDB Compound for CILP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for CILP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrophosphate 48.1 1 12746903 (1)



    CILP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CILP gene: 
    NM_003613.3  

    Unigene Cluster for CILP:

    Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
    Hs.442180  [show with all ESTs]
    Unigene Representative Sequence: NM_003613
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000261883(uc002aon.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CILP using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CILP:
    hsa-miR-498 hsa-miR-489 hsa-miR-542-3p hsa-miR-26a hsa-miR-26b hsa-miR-197 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidCILP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CILP
    Predesigned siRNA for gene silencing in human, mouse, rat CILP
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CILP (NM_003613)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CILP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CILP
    Primer
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    OriGene qPCR primer pairs and template standards for CILP
    OriGene qSTAR qPCR primer pairs in human, mouse for CILP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CILP
      QuantiTect SYBR Green Assays in human, mouse, rat CILP
      QuantiFast Probe-based Assays in human, mouse, rat CILP

    Additional mRNA sequence: 

    AF035408.1 AK225652.1 AK225926.1 AK313352.1 AY358904.1 BC035776.1 

    3 DOTS entries:

    DT.97861916  DT.121038014  DT.99944315 

    Selected AceView cDNA sequences (see all 104):

    BQ183831 AW338480 BC035776 BQ183826 CN479872 AL698781 NM_003613 BQ044961 
    AL046238 BX110257 BQ181259 BQ182911 BQ183767 BE271514 AI815241 AL708703 
    AY358904 BQ183256 CD359745 BQ182306 CA503413 BG898912 BQ183738 CD617273 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CILP    About this scheme

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


    ECgene alternative splicing isoforms for CILP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CILP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTGCCCA
    CILP Expression
    About this image


    CILP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             Cartilage Cells Nasal Capsule
             Micromass-induced chondrocytes
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Micromass-induced chondrocytes
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
     
     Ovary (Reproductive System)
    CILP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CILP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.442180

    UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CILP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CILP gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cilp1 , 5 cartilage intermediate layer protein, nucleotide pyrophosphohydrolase1, 5 87.32(n)1
    91.26(a)1
      9 (35.20 cM)5
    2144251  NM_173385.21  NP_775561.11 
     652651805 
    chicken
    (Gallus gallus)
    Aves CILP1 cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 68.4(n)
    71.12(a)
      415533  XM_004943889.1  XP_004943946.1 
    lizard
    (Anolis carolinensis)
    Reptilia CILP6
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343392.1(197011-219266)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.127212 Transcribed sequence with moderate similarity to protein more 74.53(n)    BX718187.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.276492 Transcribed sequence with weak similarity to protein more 74.25(n)    57055122 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CILP gene
    CILP22  
    1 SIMAP similar gene for CILP using alignment to 1 protein entry:     CILP1_HUMAN:
    CILP2

    CILP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CILP (see all 598)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1417909571,2
    C,Funtested145550900(+) TGCCCG/AGAGGT 2 /R /W mis11Minor allele frequency- A:0.00NA 4550
    rs20737111,2,,4
    C,F,O,Hother145555190(-) TGTCAC/TAGGTA 2 T I mis137Minor allele frequency- T:0.48EA NA NS WA CSA EU 10406
    rs346676111,2
    C--42317431(+) TTTTG-/GTTTT 
            
    TTTTG
    1 -- int10--------
    rs1431351191,2
    --45549001(+) GCCAGC/TTTGTC 1 -- ds50010--------
    rs344471861,2
    C,F--45549069(+) AAATCG/AGGACG 1 -- ds50012Minor allele frequency- A:0.02NA 122
    rs1482630211,2
    --45549096(+) CAGGAA/GCCCAG 1 -- ds50010--------
    rs585071761,2
    C--45549143(+) CAAACG/AGAAAA 1 -- ds50012Minor allele frequency- A:0.04WA 120
    rs1885745831,2
    --45549208(+) CCTGTA/GACTTA 1 -- ds50010--------
    rs1813307861,2
    --45549219(+) GGGGGC/TGAGGA 1 -- ds50010--------
    rs734773531,2
    C,F--45549255(+) AGAGTC/ACCCTG 1 -- ds50012Minor allele frequency- A:0.04WA 120

    HapMap Linkage Disequilibrium report for CILP (65488337 - 65503840 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CILP: --
    Human Gene Mutation Database (HGMD): CILP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CILP
    DNA2.0 Custom Variant and Variant Library Synthesis for CILP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603489   
    OMIM disorders: 603932  
    UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
  • 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)

  • 11 diseases for CILP:    
    About MalaCards
    lymphangitis    lumbar disc disease    back pain    arthropathy
    osteoarthritis    intellectual disability    rheumatoid arthritis    arthritis
    multiple myeloma    myeloma    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for CILP:
    Osteoarthritis     Lymphangitis

    CILP for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for CILP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lumbar disc disease 87.5 4 15864306 (1), 16413503 (1), 17220213 (1), 19569011 (1)
    calcium pyrophosphate dihydrate crystal deposition disease 83 2 12483726 (1), 12180739 (1)
    musculoskeletal disorder 47.3 1 16413503 (1)
    osteoarthritis 45.8 3 11315923 (1), 16413503 (1)

    Genetic Association Database (GAD): CILP
    Human Genome Epidemiology (HuGE) Navigator: CILP (3 documents)

    Export disorders for CILP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CILP gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with CILP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase. (PubMed id 9722584)1, 2, 3, 9 Lorenzo P.... Heinegaerd D. (J. Biol. Chem. 1998)
    2. A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. (PubMed id 9722583)1, 2, 3, 9 Lorenzo P.... Heinegaerd D. (J. Biol. Chem. 1998)
    3. One of two chondrocyte-expressed isoforms of cartilage intermediate- layer protein functions as an insulin-like growth factor 1 antagonist. (PubMed id 12746903)1, 2, 9 Johnson K.... Terkeltaub R. (Arthritis Rheum. 2003)
    4. Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease. (PubMed id 12483726)1, 2, 9 Hirose J.... Masuda I. (Arthritis Rheum. 2002)
    5. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. (PubMed id 15864306)1, 2, 9 Seki S.... Ikegawa S. (Nat. Genet. 2005)
    6. Implication of cartilage intermediate layer protein in cartilage destruction in subsets of patients with osteoarthritis and rheumatoid arthritis. (PubMed id 11315923)1, 2, 9 Tsuruha J....Nishioka K. (Arthritis Rheum. 2001)
    7. Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP). (PubMed id 10319588)1, 2, 9 Nakamura I.... Nakamura Y. (J. Hum. Genet. 1999)
    8. The human CILP gene: exon/intron organization and chromosomal mapping. (PubMed id 10601732)1, 2, 9 Lorenzo P.... Heinegaerd D. (Matrix Biol. 1999)
    9. The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. (PubMed id 19569011)1, 4, 9 Min S.K....Hiranuma K. (Int J Sports Med 2009)
    10. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. (PubMed id 16453284)1, 4, 9 Valdes A.M....Spector T.D. (Arthritis Rheum. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8483 HGNC: 1980 AceView: CILP Ensembl:ENSG00000138615 euGenes: HUgn8483
    ECgene: CILP H-InvDB: CILP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CILP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CILP gene:
    Search GeneIP for patents involving CILP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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