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    WISP3 WNT1 inducible signaling pathway protein 3 [ Homo sapiens (human) ]

    Gene ID: 8838, updated on 22-May-2013
    Official Symbol
    WISP3provided by HGNC
    Official Full Name
    WNT1 inducible signaling pathway protein 3provided by HGNC
    Primary source
    HGNC:12771
    Locus tag
    RP1-142L7.3
    See related
    Ensembl:ENSG00000112761; HPRD:04550; MIM:603400; Vega:OTTHUMG00000015385
    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
    PPD; CCN6; LIBC; PPAC
    Summary
    This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Location :
    6q21
    Sequence :
    Chromosome: 6; NC_000006.11 (112375278..112390889)
    See WISP3 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene FYN oncogene related to SRC, FGR, YES Neighboring gene uncharacterized LOC100506389 Neighboring gene tubulin, epsilon 1 Neighboring gene family with sequence similarity 229, member B Neighboring gene laminin, alpha 4

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. CCN6 knockdown disrupts acinar organization of breast cells in three-dimensional cultures through up-regulation of type III TGF-β receptor. Pal A, et al. Neoplasia, 2012 Nov. PMID 23226100.
    2. CCN6 modulates BMP signaling via the Smad-independent TAK1/p38 pathway, acting to suppress metastasis of breast cancer. Pal A, et al. Cancer Res, 2012 Sep 15. PMID 22805309.
    3. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Garcia Segarra N, et al. Am J Med Genet C Semin Med Genet, 2012 Aug 15. PMID 22791401.
    4. Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. Sun J, et al. PLoS One, 2012. PMID 22685593.
    5. Dual regulation of metalloproteinase expression in chondrocytes by Wnt-1-inducible signaling pathway protein 3/CCN6. Baker N, et al. Arthritis Rheum, 2012 Jul. PMID 22294415.

    See all (37) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. These results reveal a novel function of the matricellular protein CCN6 and establish a mechanistic link between CCN6 and TbetaRIII in maintaining acinar organization in the breast.
      Title: CCN6 knockdown disrupts acinar organization of breast cells in three-dimensional cultures through up-regulation of type III TGF-β receptor.
    2. Mutation analysis of WISP3 allowed the confirmation of the diagnosis in 63 out of 64 typical cases of progressive pseudorheumatoid dysplasia.
      Title: The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
    3. The data presented in this study reveal that CCN6 downregulation disrupts acinar morphogenesis and promotes invasion of mammary epithelial cells
      Title: CCN6 modulates BMP signaling via the Smad-independent TAK1/p38 pathway, acting to suppress metastasis of breast cancer.
    4. Results indicate that WNT1-inducible signaling pathway protein 3 (WISP3) mutations are associated with progressive pseudorheumatoid dysplasia (PPD).
      Title: Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
    5. CCN6 was highly expressed in end-stage osteoarthritic cartilage, suggesting a role in cartilage homeostasis. CCN6-induced repression of ADAMTS-5 and regulation of MMP-10 expression suggest complex roles for CCN6 in cartilage biology.
      Title: Dual regulation of metalloproteinase expression in chondrocytes by Wnt-1-inducible signaling pathway protein 3/CCN6.
    6. The mutations of the WISP3 gene in Progressive pseudorheumatoid dysplasia are located in the range of exon 2 to exon 5.
      Title: Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.
    7. demonstrated that CCN6 induced the proliferation of lung fibroblasts by binding to integrin beta1, leading to the phosphorylation of FAK(Y397).
      Title: CCN6 as a profibrotic mediator that stimulates the proliferation of lung fibroblasts via the integrin β1/focal adhesion kinase pathway.
    8. our results indicate that CCN6 enhances the migration of chondrosarcoma cells by increasing ICAM-1 expression
      Title: CCN6 enhances ICAM-1 expression and cell motility in human chondrosarcoma cells.
    9. Data define a pathway in which CCN6 attenuates IGF-1 signaling to decrease ZEB1 expression and invasion in breast cancer.
      Title: CCN6 (WISP3) decreases ZEB1-mediated EMT and invasion by attenuation of IGF-1 receptor signaling in breast cancer.
    10. KLK12 may indirectly regulate the bioavailability and activity of several growth factors through processing of their CCN binding partners
      Title: Kallikrein-related peptidase 12 hydrolyzes matricellular proteins of the CCN family and modifies interactions of CCN1 and CCN5 with growth factors.
    Submit: New GeneRIF Correction See all (28)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC125987, MGC125988, MGC125989

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    insulin-like growth factor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    extracellular space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Preferred Names
    WNT1-inducible-signaling pathway protein 3
    Names
    WNT1-inducible-signaling pathway protein 3
    WISP-3
    CCN family member 6

    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_011748.1 RefSeqGene

      Range
      5001..20612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003880.3 → NP_003871.1  WNT1-inducible-signaling pathway protein 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate splice pattern near the 5' end and uses a downstream start codon, compared to variant 3. The resulting isoform (1) has a shorter N-terminus, compared to isoform 3.
      Source sequence(s)
      AL512299, BC012028, BC035250, BC105941
      Consensus CDS
      CCDS5098.1
      UniProtKB/TrEMBL
      I6L968
      UniProtKB/Swiss-Prot
      O95389
      Related
      ENSP00000230529, ENST00000230529
      Conserved Domains (3) summary
      cl15278
      Location:214 – 252
      Blast Score: 76
      TSP_1; Thrombospondin type 1 domain
      cl00070
      Location:275 – 341
      Blast Score: 91
      GHB_like; Glycoprotein hormone beta chain homologues
      pfam00219
      Location:64 – 100
      Blast Score: 105
      IGFBP; Insulin-like growth factor binding protein

    2. NM_198239.1 → NP_937882.1  WNT1-inducible-signaling pathway protein 3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).
      Source sequence(s)
      AF100781, BC035250
      Consensus CDS
      CCDS5097.1
      UniProtKB/Swiss-Prot
      O95389
      Related
      ENSP00000357655, OTTHUMP00000017037, ENST00000368666, OTTHUMT00000041873
      Conserved Domains (3) summary
      cl15278
      Location:232 – 270
      Blast Score: 77
      TSP_1; Thrombospondin type 1 domain
      cl00070
      Location:293 – 359
      Blast Score: 93
      GHB_like; Glycoprotein hormone beta chain homologues
      pfam00219
      Location:82 – 118
      Blast Score: 107
      IGFBP; Insulin-like growth factor binding protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003871062.1 Reference GRCh37.p10 PATCHES

      Range
      51597..67208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      112375278..112390889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      109950089..109965718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      112372928..112388538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_130396.1: Suppressed sequence

      Description
      NM_130396.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01026080.1 (11364..26993) None
    genomic AL512299.20 (53597..58460) None
    genomic AMYH01016597.1 (145874..161484) None
    genomic CH471051.2 EAW48273.1
      EAW48274.1
      EAW48275.1
      EAW48276.1
      EAW48277.1
    genomic Z99289.2 (2000..12747) None
    mRNA AB075040.1 BAB78569.1
    mRNA AF100781.1 AAC96323.1
    mRNA AF143679.1 AAD31517.1
    mRNA AY358349.1 AAQ88715.1
    mRNA AY358350.1 AAQ88716.1
    mRNA BC012028.1 AAH12028.1
    mRNA BC035250.1 None
    mRNA BC102031.1 AAI02032.1
    mRNA BC105940.1 AAI05941.1
    mRNA BC105941.1 AAI05942.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95389.1 GenPept UniProtKB/Swiss-Prot:O95389

    Additional Links

    Gene LinkOut

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

    Chemical Information
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      Supplemental Content

      Table of contents

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        Order cDNA clone
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      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
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      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
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        GTR associated with a gene
      • HomoloGene
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      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
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        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
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        SNPs linked from GeneView
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        Gene Genotype Report
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        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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