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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
  • Protein 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). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779).

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

Enhancers for INTU Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F127632 0.2 ENCODE 19.1 +10.0 9951 1.9 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF263 NFYC INTU SLC25A31 LOC105377413
GH04F127622 0.4 ENCODE 16 +0.0 32 1.3 KLF17 ZNF48 ZNF2 RAD21 GLIS2 ZNF366 SCRT2 EGR2 ZNF263 SP3 INTU LOC100507487 MFSD8 LOC105377413
GH04F127656 0.5 Ensembl 11.1 +32.8 32830 0.2 POLR2A ZSCAN29 INTU LOC105377413 SLC25A31
GH04F127698 0.9 Ensembl ENCODE 11 +75.6 75612 1.0 PKNOX1 BMI1 EBF1 RELA ZNF316 CBX5 FOS CREM TCF7L2 MTA2 SLC25A31 INTU LOC105377413
GH04F127781 1.1 ENCODE 10.1 +159.9 159948 4.3 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 REST TBX21 SMARCB1 ZNF610 SLC25A31 INTU HSPA4L ABHD18 ENSG00000282855
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around INTU on UCSC Golden Path with GeneCards custom track

Promoters for INTU Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001249260 230 1799 KLF17 ZNF48 ZNF2 RAD21 GLIS2 ZNF366 SCRT2 EGR2 ZNF263 REST

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:
    • Interacts with C5orf42/JBTS17. Interacts with FUZ and WDPCP; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex (By similarity). Interacts with NPHP4 and DAAM1; INTU is mediating the interaction between NPHP4 and DAAM1 (PubMed:26644512).
    SequenceCaution:
    • Sequence=BAA86598.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for INTU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INTU Gene

Post-translational modifications for INTU Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779).

Gene Ontology (GO) - Molecular Function for INTU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26644512
genes like me logo Genes that share ontologies with INTU: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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. Cytoplasm, cytoskeleton, cilium basal body. 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

Gene Ontology (GO) - Cellular Components for INTU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0009986 cell surface IEA --
GO:0031514 motile cilium IDA 26644512
GO:0036064 ciliary basal body IDA 26644512
genes like me logo Genes that share ontologies with INTU: view

Pathways & Interactions for INTU Gene

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

Pathways by source for INTU Gene

Interacting Proteins for INTU Gene

Gene Ontology (GO) - Biological Process for INTU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
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 --
genes like me logo Genes that share ontologies with INTU: view

No data available for SIGNOR curated interactions for INTU Gene

Transcripts for INTU Gene

Unigene Clusters for INTU Gene

Inturned planar cell polarity protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of INTU Gene:

INTU

SOURCE GeneReport for Unigene cluster for INTU Gene:

Hs.391481
genes like me logo Genes that share expression patterns with INTU: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia INTU 34 35
  • 90.12 (n)
cow
(Bos Taurus)
Mammalia INTU 34 35
  • 88.63 (n)
mouse
(Mus musculus)
Mammalia Intu 34 16 35
  • 79.39 (n)
oppossum
(Monodelphis domestica)
Mammalia INTU 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves INTU 34 35
  • 70.92 (n)
lizard
(Anolis carolinensis)
Reptilia INTU 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495950 34
  • 64.02 (n)
Str.4423 34
zebrafish
(Danio rerio)
Actinopterygii intu 34
  • 58.04 (n)
INTU 35
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta in 34 35
  • 40.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005017 34
  • 39.6 (n)
Species where no ortholog for INTU was found in the sources mined by GeneCards:
  • 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
rs10009032 -- 127,634,263(+) TGATT(A/G)TTACA intron-variant, upstream-variant-2KB
rs10014097 -- 127,677,936(+) ggctc(A/G)agaac intron-variant
rs10023894 -- 127,651,294(+) taccc(A/G)tgcct intron-variant
rs10024724 -- 127,669,249(+) AATAT(A/G)CTTGT intron-variant
rs10027661 -- 127,670,047(+) AGTCA(A/G)TTATA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2728289 CNV deletion 23290073
esv2728290 CNV deletion 23290073
nsv1010746 CNV gain 25217958
nsv830056 CNV loss 17160897
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

Human Gene Mutation Database (HGMD)
INTU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. (PMID: 26644512) Yasunaga T. … Walz G. (J. Cell Biol. 2015) 3 4 64
  3. 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 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for INTU Gene

Sources for INTU Gene

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