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

Gene ID: 27152, updated on 30-Oct-2022

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; AllianceGenome:HGNC:29239
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
Summary
Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 2.8) and 24 other tissues See more
Orthologs
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Genomic context

See INTU in Genome Data Viewer
Location:
4q28.1
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127622953..127726737)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (130935927..131029762)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128554112..128647892)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5357 Neighboring gene uncharacterized LOC105377412 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 Neighboring gene solute carrier family 25 member 31 Neighboring gene uncharacterized LOC105377414 Neighboring gene heat shock protein family A (Hsp70) member 4 like Neighboring gene SOSS complex subunit C-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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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 cell division IEA
Inferred from Electronic Annotation
more info
 
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 IC
Inferred by Curator
more info
PubMed 
involved_in hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in intraciliary transport IC
Inferred by Curator
more info
PubMed 
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 IC
Inferred by Curator
more info
PubMed 
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 protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium assembly IC
Inferred by Curator
more info
PubMed 
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 smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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 centriole IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary transition zone IEA
Inferred from Electronic Annotation
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium IC
Inferred by Curator
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
ciliogenesis and planar polarity effector complex subunit 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
    Q86V55, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    127622953..127726737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531846.2XP_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_011531845.4XP_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_011531844.4XP_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_011531849.4XP_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_011531850.4XP_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_011531851.4XP_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. ...
  7. XM_011531847.2XP_011530149.1  protein inturned isoform X4

  8. XM_017008025.2XP_016863514.1  protein inturned isoform X4

  9. XM_011531848.3XP_011530150.1  protein inturned isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    130935927..131029762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)