• Gene id: 27152

Gene Summary

• Gene Symbol: INTU   Gene   UCSC   Ensembl
• Aliases: CPLANE4, INT, OFD17, PDZD6, PDZK6, SRTD20
• Gene name: inturned planar cell polarity protein
• Alternate names: protein inturned, PDZ domain containing 6, PDZ domain-containing protein 6, ciliogenesis and planar polarity effector 4, homolog of inturned, inturned planar cell polarity effector homolog,
• Gene location: 4q28.1 (38941829: 38885806)     Exons: 9     NC_000001.11
• OMIM: 610621

Protein Summary

• Protein general information: Q9ULD6  
  • Name: Protein inturned (Inturned planar cell polarity effector homolog) (PDZ domain containing protein 6)
  • Length: 942  
  • Mass: 105648
• Sequence:

  MASVASCDSRPSSDELPGDPSSQEEDEDYDFEDRVSDSGSYSSASSDYDDLEPEWLDSVQKNGELFYLELSEDEE
  ESLLPETPTVNHVRFSENEIIIEDDYKERKKYEPKLKQFTKILRRKRLLPKRCNKKNSNDNGPVSILKHQSNQKT
  GVIVQQRYKDVNVYVNPKKLTVIKAKEQLKLLEVLVGIIHQTKWSWRRTGKQGDGERLVVHGLLPGGSAMKSGQV
  LIGDVLVAVNDVDVTTENIERVLSCIPGPMQVKLTFENAYDVKRETSHPRQKKTQSNTSDLVKLLWGEEVEGIQQ
  SGLNTPHIIMYLTLQLDSETSKEEQEILYHYPMSEASQKLKSVRGIFLTLCDMLENVTGTQVTSSSLLLNGKQIH
  VAYWKESDKLLLIGLPAEEVPLPRLRNMIENVIQTLKFMYGSLDSAFCQIENVPRLDHFFNLFFQRALQPAKLHS
  SASPSAQQYDASSAVLLDNLPGVRWLTLPLEIKMELDMALSDLEAADFAELSEDYYDMRRLYTILGSSLFYKGYL
  ICSHLPKDDLIDIAVYCRHYCLLPLAAKQRIGQLIIWREVFPQHHLRPLADSSTEVFPEPEGRYFLLVVGLKHYM
  LCVLLEAGGCASKAIGSPGPDCVYVDQVKTTLHQLDGVDSRIDERLASSPVPCLSCADWFLTGSREKTDSLTTSP
  ILSRLQGTSKVATSPTCRRTLFGDYSLKTRKPSPSCSSGGSDNGCEGGEDDGFSPHTTPDAVRKQRESQGSDGLE
  ESGTLLKVTKKKSTLPNPFHLGNLKKDLPEKELEIYNTVKLTSGPENTLFHYVALETVQGIFITPTLEEVAQLSG
  SIHPQLIKNFHQCCLSIRAVFQQTLVEEKKKGLNSGDHSDSAKSVSSLNPVKEHGVLFECSPGNWTDQKKAPPVM
  AYWVVGRLFLHPKPQELYVCFHDSVTEIAIEIAFKLFFGLTL

• Structural information:
  • Protein Domains: (185..26-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR039151  IPR001478  IPR036034  
  • Prosite: PS50106
  • STRING: ENSP00000334003
• Other Databases: GeneCards:  INTU  Malacards:  INTU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IDA	cellular component
GO:0031514	motile cilium	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0060173	limb development	ISS	biological process
GO:0008589	regulation of smoothened signaling pathway	ISS	biological process
GO:0007399	nervous system development	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0044458	motile cilium assembly	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0051782	negative regulation of cell division	IEA	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0021513	spinal cord dorsal/ventral patterning	IEA	biological process
GO:0010839	negative regulation of keratinocyte proliferation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0043587	tongue morphogenesis	IMP	biological process
GO:0060021	roof of mouth development	IMP	biological process

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Oral-facial-digital syndrome	KEGG:H00454
Short-rib thoracic dysplasia	KEGG:H02157
Oral-facial-digital syndrome	KEGG:H00454
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)