Intu inturned planar cell polarity protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Intuprovided by MGI
Official Full Name: inturned planar cell polarity proteinprovided by MGI
Primary source: MGI:MGI:2443752
See related: Ensembl:ENSMUSG00000060798 AllianceGenome:MGI:2443752
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pdzd6; Pdzk6; mKIAA1284; 9230116I04Rik; 9430087H23Rik
Summary: Involved in cilium assembly; limb development; and nervous system development. Acts upstream of or within several processes, including cilium assembly; nervous system development; and skin development. Located in cytoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 2.7), CNS E11.5 (RPKM 2.3) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 B; 3 19.46 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (40585559..40659206)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (40531291..40704776)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

propose a role for Intu in protecting cells and tissues after injury by targeting STAT1 for degradation and maintaining primary cilia
Title: The CPLANE protein Intu protects kidneys from ischemia-reperfusion injury by targeting STAT1 for degradation.
Mice with a recessive hypomorphic Intu missense mutation affecting a conserved hydrophobic residue (I813N) near the C-terminus display polydactyly, retarded growth, skeletal defects, reduced survival, and a moderate loss of cilia.
Title: A hypomorphic allele reveals an important role of inturned in mouse skeletal development.
Targeting Intu in the epidermis resulted in almost complete loss of primary cilia in epidermal and follicular keratinocytes, and a suppressed hedgehog signaling pathway.
Title: Planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia.
Data show that the functions of both Inturned and Fuzzy in neural tube patterning are dependent on the presence of cilia.
Title: PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in establishment of planar polarity	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within hair follicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube development	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in roof of mouth development	ISO Inferred from Sequence Orthology more info
acts_upstream_of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord dorsal/ventral patterning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tongue morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in motile cilium	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein inturned

Names: PDZ domain-containing protein 6; 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_001405497.1 → NP_001392426.1 protein inturned isoform 2

Status: VALIDATED

Source sequence(s)

AC146980, AC163023
NM_001405498.1 → NP_001392427.1 protein inturned isoform 3

Status: VALIDATED

Source sequence(s)

AC146980, AC163023
NM_175515.6 → NP_780724.3 protein inturned isoform 1

See identical proteins and their annotated locations for NP_780724.3

Status: VALIDATED

Source sequence(s)

AC146980, AC163023

Consensus CDS

CCDS84619.1

UniProtKB/Swiss-Prot

Q059U7, Q80TG0, Q8BS60, Q8C9Y0

Related

ENSMUSP00000088725.4, ENSMUST00000091186.7

Conserved Domains (1) summary

cd00136
Location:203 → 266

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

40585559..40659206

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163145.1 → XP_036019038.1 protein inturned isoform X4

Conserved Domains (2) summary

cd00136
Location:203 → 266

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. ...

pfam19031
Location:310 → 420

Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
XM_030252659.2 → XP_030108519.1 protein inturned isoform X3
XM_017319628.2 → XP_017175117.1 protein inturned isoform X2