Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CILP Gene

Aliases for CILP Gene

  • 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
  • Cartilage Intermediate Layer Protein 1 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, Nucleotide Pyrophosphohydrolase) is a Protein Coding gene. Diseases associated with CILP include lymphangitis and intervertebral disc disease. 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

Genomic Location for CILP Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Thr96, Thr97, Thr105, Asn129, Asn132, Asn346, Asn420, Asn550, Asn631, Asn1000, Asn1056, Ser1135, Thr1136, Ser1140, and Thr1145
  • Modification sites at PhosphoSitePlus

Other Protein References for CILP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CILP Gene

Domains for CILP Gene

Gene Families for CILP Gene

HGNC:
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing

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 :
  • O75339
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:0004035 NOT alkaline phosphatase activity IDA 12746903
GO:0004551 NOT nucleotide diphosphatase activity IDA 12746903
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CILP: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 12746903
GO:0031012 extracellular matrix IDA 9722583
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with CILP: view

Pathways 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

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 Pathways by source for CILP Gene

Compounds for CILP Gene

(1) HMDB Compounds for CILP Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for CILP Gene

Compound -log(P) Hits PubMed IDs
pyrophosphate 48.1 1
genes like me logo Genes that share compounds with CILP: view

Transcripts for CILP Gene

mRNA/cDNA for CILP Gene

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

Unigene Clusters for CILP Gene

Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CILP

Primer Products

Flow Cytometry 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 for CILP Gene

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

This gene is overexpressed in Adipose - Visceral (Omentum) (5.3) and Adipose - Subcutaneous (5.2).

Integrated Proteomics: protein expression 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 expressions with CILP: view

In Situ Assay Products

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 35
  • 99.55 (n)
  • 99.58 (a)
CILP 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CILP 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CILP 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cilp 35
  • 86.63 (n)
  • 89.53 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4324 35
zebrafish
(Danio rerio)
Actinopterygii cilp 35
  • 63.79 (n)
  • 64.08 (a)
cilp 36
  • 62 (a)
OneToOne
Dr.27649 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

Selected 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 MAF
rs756625 -- 65,200,971(-) GGAGA(C/T)AAGGG intron-variant
rs894492 -- 65,200,751(-) ATGCA(A/C/T)AGTTT intron-variant
rs938951 -- 65,196,071(+) GAACA(A/G)AAGCG utr-variant-3-prime
rs938952 - 65,196,790(+) TCCAC(C/T)CTGGC missense, reference
rs1442795 -- 65,210,181(+) TGACT(C/T)GTCAC intron-variant

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

MalaCards: The human disease database. (3) Diseases for CILP Gene including...

Search for CILP Gene in MalaCards »

(1) OMIM Diseases for CILP Gene (603489)

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. 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:0000269 PubMed:15864306}.

(2) University of Copenhagen DISEASES for CILP Gene

(4) Novoseek inferred disease relationships for CILP Gene

Disease -log(P) Hits PubMed IDs
lumbar disc disease 87.5 4
calcium pyrophosphate dihydrate crystal deposition disease 83 2
musculoskeletal disorder 47.3 1
osteoarthritis 45.8 2

Relevant External Links for CILP

Genetic Association Database (GAD)
CILP
Human Genome Epidemiology (HuGE) Navigator
CILP
genes like me logo Genes that share disorders with CILP: view

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. … Heinegaerd D. (J. Biol. Chem. 1998) 2 3 4 23
  2. 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
  3. Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP). (PMID: 10319588) Nakamura I. … Nakamura Y. (J. Hum. Genet. 1999) 3 4 23
  4. Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease. (PMID: 12483726) Hirose J. … Masuda I. (Arthritis Rheum. 2002) 3 4 23
  5. One of two chondrocyte-expressed isoforms of cartilage intermediate- layer protein functions as an insulin-like growth factor 1 antagonist. (PMID: 12746903) Johnson K. … Terkeltaub R. (Arthritis Rheum. 2003) 3 4 23

Products for CILP Gene

Sources for CILP Gene

Back to Top

Content