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

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
CILP is involved in the etiology of intervertebral disc degeneration among young adults.
Title: Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.
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.
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.
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.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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 more info	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

NG_012214.2 RefSeqGene

Range

5000..21713

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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