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

    Gene ID: 8483, updated on 12-Aug-2018

    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; Vega:OTTHUMG00000133140
    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

    Genomic context

    See CILP in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (65195999..65213142, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65488337..65503840, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene programmed cell death 7 Neighboring gene caseinolytic mitochondrial matrix peptidase chaperone subunit 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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)

    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_003613.3NP_003604.3  cartilage intermediate layer protein 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC068213, AK313352, BC035776, CA503413, DB071945
      Consensus CDS
      CCDS10203.1
      UniProtKB/Swiss-Prot
      O75339
      Related
      ENSP00000261883.4, OTTHUMP00000164180, ENST00000261883.5, OTTHUMT00000256829
      Conserved Domains (6) summary
      smart00408
      Location:323383
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:152200
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:309394
      I-set; Immunoglobulin I-set domain
      pfam13330
      Location:55139
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
      pfam13620
      Location:226288
      CarboxypepD_reg; Carboxypeptidase regulatory-like domain
      pfam13715
      Location:492593
      CarbopepD_reg_2; CarboxypepD_reg-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      65195999..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

    2. XM_017022679.1XP_016878168.1  cartilage intermediate layer protein 1 isoform X2

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