Free for academic non-profit institutions. Other users need a Commercial license

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 Hedgehog and Signaling by GPCR.

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).

Additional gene information for INTU Gene

No data available for Entrez Gene Summary , CIViC 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
GH04H127632 1 ENCODE 19.1 +10.0 9951 1 ARID4B SIN3A DMAP1 YY1 ATF7 ZHX2 MXD4 NFYC REST KAT8 INTU SLC25A31 MFSD8 LOC105377413
GH04H127622 0.9 ENCODE 16 +0.0 32 1 KLF17 RAD21 ZNF2 GLIS2 ZNF366 SCRT2 EGR2 SP3 ZNF398 ZNF843 INTU LOC100507487 MFSD8 LOC105377413
GH04H128551 1.4 ENCODE dbSUPER 10 +930.2 930169 2 PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF416 FOS MFSD8 PGRMC2 RPL21P53 ABHD18 INTU JADE1 LOC101927259 C4orf33 GC04P128333
GH04H127781 1.3 ENCODE dbSUPER 10.1 +159.9 159948 4 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZHX2 REST SMARCB1 SLC25A31 INTU HSPA4L ABHD18 ENSG00000282855
GH04H127698 1.1 Ensembl ENCODE 11 +75.6 75612 0 PKNOX1 BACH1 BMI1 EBF1 BATF RELA FOS ATF7 ZSCAN29 RUNX3 SLC25A31 INTU LOC105377413
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000173177 229 1400 KLF17 RAD21 ZNF2 GLIS2 ZNF366 SCRT2 EGR2 REST ZNF398 ZNF843

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the inturned family.
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).

Phenotypes From GWAS Catalog for INTU Gene

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

CRISPR Products

miRNA for INTU Gene

miRTarBase miRNAs that target INTU

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for INTU
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INTU gene
Compartment Confidence
cytoskeleton 5
mitochondrion 3
cytosol 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for INTU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005856 cytoskeleton IEA --
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

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for INTU
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for INTU Gene

  • Nervous system(4.4)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia INTU 33 34
  • 90.12 (n)
cow
(Bos Taurus)
Mammalia INTU 33 34
  • 88.63 (n)
mouse
(Mus musculus)
Mammalia Intu 33 16 34
  • 79.39 (n)
oppossum
(Monodelphis domestica)
Mammalia INTU 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves INTU 33 34
  • 70.92 (n)
lizard
(Anolis carolinensis)
Reptilia INTU 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495950 33
  • 64.02 (n)
Str.4423 33
zebrafish
(Danio rerio)
Actinopterygii intu 33
  • 58.04 (n)
INTU 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta in 33 34
  • 40.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005017 33
  • 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
rs1000026039 -- 127,689,527(+) CACCT(A/C/G)TATTC intron-variant
rs1000046096 -- 127,672,646(+) CCTTA(A/G)CAATG intron-variant
rs1000104708 -- 127,683,929(+) TTCTC(C/T)TACTT intron-variant
rs1000165593 -- 127,666,454(+) GACCT(A/G)GGATA intron-variant
rs1000168790 -- 127,684,130(+) ACTAC(A/T)GGCCT 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 60
  2. The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. (PMID: 26644512) Yasunaga T … Walz G (The Journal of cell biology 2015) 3 4 60
  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 (Developmental dynamics : an official publication of the American Association of Anatomists 2011) 2 3 60
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for INTU Gene

Sources for INTU Gene

Content
Loading form....