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Aliases for INTU Gene

Aliases for INTU Gene

  • Inturned Planar Cell Polarity Protein 2 3 5
  • Inturned Planar Cell Polarity Effector Homolog 3 4
  • PDZ Domain-Containing Protein 6 3 4
  • PDZ Domain Containing 6 2 3
  • PDZD6 3 4
  • PDZK6 3 4
  • Inturned Planar Cell Polarity Effector Homolog (Drosophila) 2
  • Homolog Of Inturned 3
  • KIAA1284 4
  • INT 3

External Ids for INTU Gene

Previous HGNC Symbols for INTU Gene

  • PDZK6
  • PDZD6

Previous GeneCards Identifiers for INTU Gene

  • GC04P128774
  • GC04P128554
  • GC04P124281

Summaries for INTU Gene

GeneCards Summary for INTU Gene

INTU (Inturned Planar Cell Polarity Protein) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog.

UniProtKB/Swiss-Prot for INTU Gene

  • Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INTU Gene

Genomics for INTU Gene

Regulatory Elements for INTU Gene

Promoters for INTU Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around INTU on UCSC Golden Path with GeneCards custom track

Genomic Location for INTU Gene

Chromosome:
4
Start:
127,623,271 bp from pter
End:
127,726,737 bp from pter
Size:
103,467 bases
Orientation:
Plus strand

Genomic View for INTU Gene

Genes around INTU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INTU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INTU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INTU Gene

Proteins for INTU Gene

  • Protein details for INTU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULD6-INTU_HUMAN
    Recommended name:
    Protein inturned
    Protein Accession:
    Q9ULD6
    Secondary Accessions:
    • A1L4N5
    • D6RAE6
    • D6RBT4
    • Q4W5I8
    • Q86V55

    Protein attributes for INTU Gene

    Size:
    942 amino acids
    Molecular mass:
    105648 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86598.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for INTU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INTU Gene

Proteomics data for INTU Gene at MOPED

Post-translational modifications for INTU Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for INTU Gene

Antibody Products

No data available for DME Specific Peptides for INTU Gene

Domains & Families for INTU Gene

Gene Families for INTU Gene

Protein Domains for INTU Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for INTU Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULD6

UniProtKB/Swiss-Prot:

INTU_HUMAN :
  • Contains 1 PDZ (DHR) domain.
  • Belongs to the inturned family.
Domain:
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the inturned family.
genes like me logo Genes that share domains with INTU: view

Function for INTU Gene

Molecular function for INTU Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity).
genes like me logo Genes that share phenotypes with INTU: view

Animal Models for INTU Gene

MGI Knock Outs for INTU:

Animal Model Products

miRNA for INTU Gene

miRTarBase miRNAs that target INTU

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INTU Gene

Localization for INTU Gene

Subcellular locations from UniProtKB/Swiss-Prot for INTU Gene

Cytoplasm. Cell surface. Note=Enriched at the apical surface in ciliated cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INTU Gene COMPARTMENTS Subcellular localization image for INTU gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for INTU Gene

Pathways & Interactions for INTU Gene

genes like me logo Genes that share pathways with INTU: view

Pathways by source for INTU Gene

Gene Ontology (GO) - Biological Process for INTU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development ISS --
GO:0008589 regulation of smoothened signaling pathway ISS --
GO:0010839 negative regulation of keratinocyte proliferation IEA --
GO:0021513 spinal cord dorsal/ventral patterning IEA --
GO:0021915 neural tube development IEA --
genes like me logo Genes that share ontologies with INTU: view

No data available for SIGNOR curated interactions for INTU Gene

Drugs & Compounds for INTU Gene

No Compound Related Data Available

Transcripts for INTU Gene

Unigene Clusters for INTU Gene

Inturned planar cell polarity protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for INTU Gene

No ASD Table

Relevant External Links for INTU Gene

GeneLoc Exon Structure for
INTU
ECgene alternative splicing isoforms for
INTU

Expression for INTU Gene

mRNA expression in normal human tissues for INTU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for INTU Gene



SOURCE GeneReport for Unigene cluster for INTU Gene Hs.391481

genes like me logo Genes that share expression patterns with INTU: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for INTU Gene

Orthologs for INTU Gene

This gene was present in the common ancestor of animals.

Orthologs for INTU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INTU 36
  • 99 (a)
OneToOne
INTU 35
  • 99.29 (n)
  • 99.04 (a)
cow
(Bos Taurus)
Mammalia INTU 35
  • 88.63 (n)
  • 88.09 (a)
INTU 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INTU 36
  • 89 (a)
OneToOne
INTU 35
  • 90.12 (n)
  • 88.84 (a)
mouse
(Mus musculus)
Mammalia Intu 16
Intu 36
  • 80 (a)
OneToOne
Intu 35
  • 79.39 (n)
  • 79.21 (a)
oppossum
(Monodelphis domestica)
Mammalia INTU 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves INTU 35
  • 70.92 (n)
  • 67.01 (a)
INTU 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INTU 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495950 35
  • 64.02 (n)
  • 61.41 (a)
Str.4423 35
zebrafish
(Danio rerio)
Actinopterygii intu 35
  • 58.04 (n)
  • 57.31 (a)
INTU 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005017 35
  • 39.6 (n)
  • 27.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta in 35
  • 40.97 (n)
  • 29.37 (a)
in 36
  • 24 (a)
OneToOne
Species with no ortholog for INTU:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INTU Gene

ENSEMBL:
Gene Tree for INTU (if available)
TreeFam:
Gene Tree for INTU (if available)

Paralogs for INTU Gene

No data available for Paralogs for INTU Gene

Variants for INTU Gene

Sequence variations from dbSNP and Humsavar for INTU Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1159021 -- 127,714,844(+) ATAAA(C/T)ATGTG intron-variant
rs1459049 -- 127,703,639(-) TATCA(C/T)ACATA intron-variant
rs1459051 -- 127,689,635(-) CCCAC(C/T)GTAGT intron-variant
rs3066386 -- 127,658,336(+) GATGG(-/AG/AGATG/AGATGG/TGG)GGTGG intron-variant
rs3066389 -- 127,709,745(+) ACACA(-/CA/CACA/CACACA/CACACACC/CACACC)GTACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for INTU Gene

Variant ID Type Subtype PubMed ID
nsv879915 CNV Gain 21882294
nsv879916 CNV Loss 21882294
dgv5711n71 CNV Loss 21882294
nsv830056 CNV Loss 17160897
dgv5712n71 CNV Loss 21882294
nsv879921 CNV Loss 21882294
nsv879923 CNV Loss 21882294
esv2728289 CNV Deletion 23290073
esv2728290 CNV Deletion 23290073
nsv879924 CNV Loss 21882294
nsv879925 CNV Loss 21882294
nsv830057 CNV Loss 17160897

Variation tolerance for INTU Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INTU Gene

HapMap Linkage Disequilibrium report
INTU
Human Gene Mutation Database (HGMD)
INTU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INTU Gene

Disorders for INTU Gene

Relevant External Links for INTU

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INTU

No disorders were found for INTU Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for INTU Gene

Publications for INTU Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 67
  2. PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube. (PMID: 21761479) Heydeck W. … Liu A. (Dev. Dyn. 2011) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant. (PMID: 21948523) Al-Balool H.H. … Jackson M.S. (Genome Res. 2011) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for INTU Gene

Sources for INTU Gene

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