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

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: Predicted to enable phosphatidylinositol binding activity. 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, Oct 2024]
Expression: Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 2.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q28.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (127632957..127726737)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (130935927..131029762)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (128554112..128647892)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deficiency of the Planar Cell Polarity Protein Intu Delays Kidney Repair and Suppresses Renal Fibrosis after Acute Kidney Injury.
Title: Deficiency of the Planar Cell Polarity Protein Intu Delays Kidney Repair and Suppresses Renal Fibrosis after Acute Kidney Injury.
Multifaceted investigation underlies diverse mechanisms contributing to the downregulation of Hedgehog pathway-associated genes INTU and IFT88 in lung adenocarcinoma and uterine corpus endometrial carcinoma.
Title: Multifaceted investigation underlies diverse mechanisms contributing to the downregulation of Hedgehog pathway-associated genes INTU and IFT88 in lung adenocarcinoma and uterine corpus endometrial carcinoma.
Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes.
Title: Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Orofaciodigital syndrome 17 MedGen: C4693640 OMIM: 617926 GeneReviews: Not available	not available
Short-rib thoracic dysplasia 20 with polydactyly MedGen: C4693616 OMIM: 617925 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G34402 (e-PCR)
- UniSTS:71460

SHGC-77921 (e-PCR)
- UniSTS:170072

D4S2567E (e-PCR)
- UniSTS:39310

RH102848 (e-PCR)
- UniSTS:97182

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info
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
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	NAS Non-traceable Author Statement more info	PubMed
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in intraciliary transport	NAS Non-traceable Author Statement 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
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube development	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement 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
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_015693.4 → NP_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

A1L4N5, D6RAE6, D6RBT4, Q4W5I8, Q86V55, Q9ULD6

Related

ENSP00000334003.5, ENST00000335251.11

Conserved Domains (1) summary

cd00136
Location:199 → 262

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. ...