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

Gene ID: 8483, updated on 5-Mar-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
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Genomic context

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Location:
15q22.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65194760..65211473, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (63004114..63020834, complement)
105.20220307 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. Association Between Cartilage Intermediate Layer Protein and Degeneration of Intervertebral Disc: A Meta-analysis. Wang W, et al. Spine (Phila Pa 1976), 2016 Oct 15. PMID 27359356
  2. 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
  3. 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
  4. 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
  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. Du H, et al. Rheumatol Int, 2005 Nov. PMID 15378262

See all (31) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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