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Intu - inturned planar cell polarity protein Gene

Also Known as Pdzd6; Pdzk6; mKIAA1284; 9230116I04Rik; 9430087H23Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 380614

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]

Intu Products (3)

mRNA	Protein	Name
NM_001405497.1	NP_001392426.1	protein inturned isoform 2
NM_001405498.1	NP_001392427.1	protein inturned isoform 3
NM_175515.6	NP_780724.3	protein inturned isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	35427153	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	27158779	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of cell division	IMP IMP: Inferred from mutant phenotype	22935613	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	25774014	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	20067783	MGI
acts upstream of or within embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	25774014	MGI
acts upstream of or within hair follicle morphogenesis	IMP IMP: Inferred from mutant phenotype	22935613	MGI
acts upstream of or within keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	22935613	MGI
involved in limb development	IMP IMP: Inferred from mutant phenotype	20067783	MGI
acts upstream of or within motile cilium assembly	IMP IMP: Inferred from mutant phenotype	25774014	MGI
acts upstream of or within negative regulation of cell division	IMP IMP: Inferred from mutant phenotype	22935613	MGI
acts upstream of or within negative regulation of keratinocyte proliferation	IMP IMP: Inferred from mutant phenotype	22935613	MGI
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	20067783	MGI
acts upstream of or within neural tube development	IMP IMP: Inferred from mutant phenotype	25774014	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	22935613	MGI
acts upstream of or within positive regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	22935613	MGI
acts upstream of or within protein localization to organelle	IMP IMP: Inferred from mutant phenotype	29038301	MGI
acts upstream of or within regulation of ossification	IMP IMP: Inferred from mutant phenotype	25774014	MGI
acts upstream of or within regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	25774014	MGI
involved in regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	20067783	MGI
acts upstream of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	22935613	MGI
acts upstream of or within spinal cord dorsal/ventral patterning	IMP IMP: Inferred from mutant phenotype	21761479	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	29038301	MGI
located in ciliary transition zone	IDA IDA: Inferred from direct assay	29038301	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	20067783	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
protein inturned	PDZ domain-containing protein 6 inturned planar cell polarity effector homolog

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06859	INTU Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Intu	NCBI	NCBI:27152