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

Gene ID: 8483, updated on 16-Oct-2021

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
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
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

See CILP in Genome Data Viewer
Location:
15q22.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (65194760..65213142, complement)
105.20201022 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 Sharpr-MPRA regulatory region 15221 Neighboring gene uncharacterized LOC112268147 Neighboring gene RNA, U6 small nuclear 686, pseudogene Neighboring gene poly(ADP-ribose) polymerase family member 16 Neighboring gene small nucleolar RNA, H/ACA box 24B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables alkaline phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
NOT enables nucleotide diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_012214.1 RefSeqGene

    Range
    5001..20504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC068213
    Consensus CDS
    CCDS10203.1
    Related
    ENSP00000261883.4, ENST00000261883.6
    Conserved Domains (4) summary
    smart00209
    Location:152200
    TSP1; Thrombospondin type 1 repeats
    pfam13330
    Location:55139
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region
    pfam13620
    Location:226288
    CarboxypepD_reg; Carboxypeptidase regulatory-like domain
    pfam13927
    Location:309378
    Ig_3; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    65194760..65213142 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022678.2XP_016878167.1  cartilage intermediate layer protein 1 isoform X1

    Conserved Domains (2) summary
    smart00408
    Location:350410
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:179227
    TSP1; Thrombospondin type 1 repeats
  2. XM_017022679.1XP_016878168.1  cartilage intermediate layer protein 1 isoform X2

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