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    Intu inturned planar cell polarity protein [ Mus musculus (house mouse) ]

    Gene ID: 380614, updated on 9-Dec-2024

    Summary

    Official Symbol
    Intuprovided by MGI
    Official Full Name
    inturned planar cell polarity proteinprovided by MGI
    Primary source
    MGI:MGI:2443752
    See related
    Ensembl:ENSMUSG00000060798 AllianceGenome:MGI:2443752
    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
    Pdzd6; Pdzk6; mKIAA1284; 9230116I04Rik; 9430087H23Rik
    Summary
    Enables phosphatidylinositol binding activity. Involved in several processes, including cilium assembly; limb development; and regulation of smoothened signaling pathway. Acts upstream of or within several processes, including cilium assembly; hair follicle morphogenesis; and nervous system development. Located in centriole; ciliary transition zone; and cytoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart adult (RPKM 2.7), CNS E11.5 (RPKM 2.3) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Intu in Genome Data Viewer
    Location:
    3 B; 3 19.46 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (40585559..40659206)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (40531291..40704776)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_07471 Neighboring gene predicted gene, 46801 Neighboring gene RIKEN cDNA 1700017G19 gene Neighboring gene predicted gene, 46800 Neighboring gene STARR-positive B cell enhancer mm9_chr3:40439532-40439833 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:40457146-40457255 Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Neighboring gene heat shock protein 4 like Neighboring gene STARR-seq mESC enhancer starr_07472

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of planar polarity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in limb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural tube development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cilium assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spinal cord dorsal/ventral patterning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tongue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    protein inturned
    Names
    PDZ domain-containing protein 6
    inturned planar cell polarity effector homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001405497.1NP_001392426.1  protein inturned isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC146980, AC163023
    2. NM_001405498.1NP_001392427.1  protein inturned isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC146980, AC163023
    3. NM_175515.6NP_780724.3  protein inturned isoform 1

      See identical proteins and their annotated locations for NP_780724.3

      Status: VALIDATED

      Source sequence(s)
      AC146980, AC163023
      Consensus CDS
      CCDS84619.1
      UniProtKB/Swiss-Prot
      Q059U7, Q80TG0, Q8BS60, Q8C9Y0
      Related
      ENSMUSP00000088725.4, ENSMUST00000091186.7
      Conserved Domains (1) summary
      cd00136
      Location:203266
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      40585559..40659206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163145.1XP_036019038.1  protein inturned isoform X4

      Conserved Domains (2) summary
      cd00136
      Location:203266
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
      pfam19031
      Location:310420
      Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    2. XM_030252659.2XP_030108519.1  protein inturned isoform X3

    3. XM_017319628.2XP_017175117.1  protein inturned isoform X2