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    Cilp cartilage intermediate layer protein, nucleotide pyrophosphohydrolase [ Mus musculus (house mouse) ]

    Gene ID: 214425, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cilpprovided by MGI
    Official Full Name
    cartilage intermediate layer protein, nucleotide pyrophosphohydrolaseprovided by MGI
    Primary source
    MGI:MGI:2444507
    See related
    Ensembl:ENSMUSG00000042254 AllianceGenome:MGI:2444507
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CILP-1; 9830114D16; C130036G17Rik
    Summary
    Predicted to be involved in cellular response to transforming growth factor beta stimulus; negative regulation of gene expression; and negative regulation of signal transduction. Predicted to be located in extracellular region. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including diaphragm; lower lip; musculoskeletal system; spleen; and tongue. Human ortholog(s) of this gene implicated in osteoarthritis. Orthologous to human CILP (cartilage intermediate layer protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in genital fat pad adult (RPKM 10.5), subcutaneous fat pad adult (RPKM 8.2) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 C; 9 35.2 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (65172462..65187896)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (65265180..65280614)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2894 Neighboring gene predicted gene, 40527 Neighboring gene RNA, U5G small nuclear Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:65064991-65065144 Neighboring gene poly (ADP-ribose) polymerase family, member 16 Neighboring gene predicted gene, 36538 Neighboring gene STARR-seq mESC enhancer starr_24450 Neighboring gene STARR-positive B cell enhancer ABC_E5079 Neighboring gene predicted gene 16218 Neighboring gene caseinolytic mitochondrial matrix peptidase chaperone subunit Neighboring gene predicted gene, 19219

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Matricellular Protein Cilp1 Promotes Myocardial Fibrosis in Response to Myocardial Infarction. Zhang QJ, et al. Circ Res, 2021 Nov 12. PMID 34610755, Free PMC Article
    2. Cartilage intermediate layer protein-1 alleviates pressure overload-induced cardiac fibrosis via interfering TGF-β1 signaling. Zhang CL, et al. J Mol Cell Cardiol, 2018 Mar. PMID 29438665
    3. Cartilage intermediate layer protein promotes lumbar disc degeneration. Seki S, et al. Biochem Biophys Res Commun, 2014 Apr 18. PMID 24631904
    4. Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis. Bernardo BC, et al. J Biol Chem, 2011 Oct 28. PMID 21880736, Free PMC Article
    5. Identification of mechanosensitive genes during skeletal development: alteration of genes associated with cytoskeletal rearrangement and cell signalling pathways. Rolfe RA, et al. BMC Genomics, 2014 Jan 20. PMID 24443808, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Matricellular Protein Cilp1 Promotes Myocardial Fibrosis in Response to Myocardial Infarction.
      Title: Matricellular Protein Cilp1 Promotes Myocardial Fibrosis in Response to Myocardial Infarction.
    2. CILP-1 is a novel extracellular matrix protein possessing anti-fibrotic ability in pressure overload-induced fibrotic remodeling.
      Title: Cartilage intermediate layer protein-1 alleviates pressure overload-induced cardiac fibrosis via interfering TGF-β1 signaling.
    3. Overexpression of CILP in the nucleus pulposus cells promotes disc degeneration, indicating that CILP plays a direct role in the pathogenesis of lumbar disc disease.
      Title: Cartilage intermediate layer protein promotes lumbar disc degeneration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (1) 

    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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of insulin-like growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cartilage intermediate layer protein 1

    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.

    mRNA and Protein(s)

    1. NM_001364527.1 → NP_001351456.1  cartilage intermediate layer protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC110235
      UniProtKB/Swiss-Prot
      Q66K08, Q7TSS0, Q7TSS1, Q8BV01
      Conserved Domains (3) summary
      smart00209
      Location:53 → 101
      TSP1; Thrombospondin type 1 repeats
      pfam13330
      Location:1 → 40
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
      pfam13927
      Location:210 → 279
      Ig_3; Immunoglobulin domain

    2. NM_173385.3 → NP_775561.1  cartilage intermediate layer protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_775561.1

      Status: VALIDATED

      Source sequence(s)
      AC110235, AK081544
      Consensus CDS
      CCDS23287.1
      UniProtKB/Swiss-Prot
      Q66K08, Q7TSS0, Q7TSS1, Q8BV01
      UniProtKB/TrEMBL
      A0A0R4J0F8
      Related
      ENSMUSP00000036631.2, ENSMUST00000048762.8
      Conserved Domains (5) summary
      smart00408
      Location:323 → 383
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:152 → 200
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:321 → 394
      IG_like; Immunoglobulin like
      pfam13330
      Location:55 → 139
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
      pfam13715
      Location:492 → 580
      CarbopepD_reg_2; CarboxypepD_reg-like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      65172462..65187896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66K08.1 GenPept UniProtKB/Swiss-Prot:Q66K08

    Gene LinkOut

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

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