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    INTU inturned planar cell polarity protein [ Homo sapiens (human) ]

    Gene ID: 27152, updated on 22-Jun-2021

    Summary

    Official Symbol
    INTUprovided by HGNC
    Official Full Name
    inturned planar cell polarity proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29239
    See related
    Ensembl:ENSG00000164066 MIM:610621
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INT; OFD17; PDZD6; PDZK6; SRTD20; CPLANE4
    Expression
    Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 2.8) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See INTU in Genome Data Viewer
    Location:
    4q28.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (127623271..127726737)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128554112..128647892)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene diamine acetyltransferase 1-like Neighboring gene uncharacterized LOC105377412 Neighboring gene uncharacterized LOC105377413 Neighboring gene solute carrier family 25 member 31 Neighboring gene uncharacterized LOC105377414 Neighboring gene SOSS complex subunit C pseudogene Neighboring gene heat shock protein family A (Hsp70) member 4 like

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ41326, KIAA1284

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spinal cord dorsal/ventral patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tongue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein inturned
    Names
    PDZ domain containing 6
    PDZ domain-containing protein 6
    ciliogenesis and planar polarity effector 4
    inturned planar cell polarity effector homolog

    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_015693.4NP_056508.2  protein inturned

      See identical proteins and their annotated locations for NP_056508.2

      Status: VALIDATED

      Source sequence(s)
      AC093591, BC130611, DB195553, DB302901
      Consensus CDS
      CCDS34061.1
      UniProtKB/Swiss-Prot
      Q9ULD6
      Related
      ENSP00000334003.5, ENST00000335251.11
      Conserved Domains (1) summary
      cd00136
      Location:199262
      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: 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_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      127623271..127726737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531846.1XP_011530148.1  protein inturned isoform X3

      UniProtKB/Swiss-Prot
      Q9ULD6
      Conserved Domains (1) summary
      cd00136
      Location:180243
      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. ...
    2. XM_011531845.3XP_011530147.1  protein inturned isoform X2

      Conserved Domains (1) summary
      cd00136
      Location:199262
      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. ...
    3. XM_011531844.3XP_011530146.1  protein inturned isoform X1

      Conserved Domains (1) summary
      cd00136
      Location:199262
      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. ...
    4. XM_011531849.3XP_011530151.1  protein inturned isoform X6

      Conserved Domains (1) summary
      cd00136
      Location:199262
      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. ...
    5. XM_011531850.3XP_011530152.1  protein inturned isoform X7

      Conserved Domains (1) summary
      cd00136
      Location:199262
      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. ...
    6. XM_017008026.2XP_016863515.1  protein inturned isoform X9

    7. XM_011531851.3XP_011530153.1  protein inturned isoform X8

      Related
      ENSP00000421995.1, ENST00000503952.5
      Conserved Domains (1) summary
      cd00136
      Location:199262
      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. ...
    8. XM_011531847.1XP_011530149.1  protein inturned isoform X4

    9. XM_017008025.1XP_016863514.1  protein inturned isoform X4

    10. XM_011531848.2XP_011530150.1  protein inturned isoform X5

    RNA

    1. XR_001741201.1 RNA Sequence

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