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    CILP cartilage intermediate layer protein [ Homo sapiens (human) ]

    Gene ID: 8483, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CILPprovided by HGNC
    Official Full Name
    cartilage intermediate layer proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1980
    See related
    Ensembl:ENSG00000138615 MIM:603489; AllianceGenome:HGNC:1980
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CILP1; CILP-1; HsT18872
    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]
    Expression
    Biased expression in gall bladder (RPKM 29.3), fat (RPKM 19.1) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CILP in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65194760..65211473, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (63004114..63020834, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65487098..65503811, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene caseinolytic mitochondrial matrix peptidase chaperone subunit X Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:65477313-65478197 Neighboring gene uncharacterized LOC124903509 Neighboring gene Sharpr-MPRA regulatory region 15221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65504440-65505341 Neighboring gene RNA, U6 small nuclear 686, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65532106-65532606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65532607-65533107 Neighboring gene poly(ADP-ribose) polymerase family member 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65545798-65546298 Neighboring gene small nucleolar RNA, H/ACA box 24B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Implication of cartilage intermediate layer protein in cartilage destruction in subsets of patients with osteoarthritis and rheumatoid arthritis. Tsuruha J, et al. Arthritis Rheum, 2001 Apr. PMID 11315923
    2. CILP-1 Is a Biomarker for Backward Failure and Right Ventricular Dysfunction in HFrEF. Weidenhammer A, et al. Cells, 2023 Dec 13. PMID 38132152, Free PMC Article
    3. Phenotypic and population differences in the association between CILP and lumbar disc disease. Virtanen IM, et al. J Med Genet, 2007 Apr. PMID 17220213, Free PMC Article
    4. The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. Min SK, et al. Int J Sports Med, 2009 Sep. PMID 19569011
    5. Cartilage intermediate layer protein gene is associated with lumbar disc degeneration in male, but not female, collegiate athletes. Min SK, et al. Am J Sports Med, 2010 Dec. PMID 20724643

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CILP is a potential pan-cancer marker: combined silico study and in vitro analyses.
      Title: CILP is a potential pan-cancer marker: combined silico study and in vitro analyses.
    2. CILP-1 Is a Biomarker for Backward Failure and Right Ventricular Dysfunction in HFrEF.
      Title: CILP-1 Is a Biomarker for Backward Failure and Right Ventricular Dysfunction in HFrEF.
    3. CILP gene polymorphism (rs2073711) is associated with a lower risk of lumbar disc degeneration.
      Title: Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.
    4. CILP rs2073711 TT is associated with increased risk of symmetrical hand osteoarthritis particularly in individuals with low variation in work tasks.
      Title: Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.
    5. Meta-analysis. Our results confirm the positive association between CILP and intervertebral disc degeneration, providing novel clues for clarifying the role of CILP in the development of IVD.
      Title: Association Between Cartilage Intermediate Layer Protein and Degeneration of Intervertebral Disc: A Meta-analysis.
    6. CILP is involved in the etiology of intervertebral disc degeneration among young adults.
      Title: Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.
    7. The researchers found that the single nucleotide polymorphism (1184T/C) of the CILP gene is associated an increased risk of lumbar disc degeneration in male athletes.
      Title: Cartilage intermediate layer protein gene is associated with lumbar disc degeneration in male, but not female, collegiate athletes.
    8. the CILP gene 1184T/C polymorphism is a significant risk factor for lumbar disc degeneration occurrence in Japanese collegiate judo athletes
      Title: The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Cartilage intermediate layer protein gene is associated with lumbar disc degeneration in male, but not female, collegiate athletes.
    10. CILP regulates TGF-beta signaling and that this regulation has a crucial role in the etiology and pathogenesis of LDD.
      Title: A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intervertebral disc disorder
    MedGen: C0158252 OMIM: 603932 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables alkaline phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables dinucleotide phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cartilage intermediate layer protein 1
    Names
    cartilage intermediate layer protein 1 C1
    cartilage intermediate layer protein 1 C2
    cartilage intermediate layer protein, nucleotide pyrophosphohydrolase

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012214.2 RefSeqGene

      Range
      5000..21713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003613.4 → NP_003604.4  cartilage intermediate layer protein 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC068213
      Consensus CDS
      CCDS10203.1
      UniProtKB/Swiss-Prot
      B2R8F7, O75339, Q6UW99, Q8IYI5
      Related
      ENSP00000261883.4, ENST00000261883.6
      Conserved Domains (4) summary
      smart00209
      Location:152 → 200
      TSP1; Thrombospondin type 1 repeats
      pfam13330
      Location:55 → 139
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
      pfam13620
      Location:226 → 288
      CarboxypepD_reg; Carboxypeptidase regulatory-like domain
      pfam13927
      Location:309 → 378
      Ig_3; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65194760..65211473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022679.2 → XP_016878168.1  cartilage intermediate layer protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      63004114..63020834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379000.1 → XP_054234975.1  cartilage intermediate layer protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75339.4 GenPept UniProtKB/Swiss-Prot:O75339

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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