• Gene id: 50855

Gene Summary

• Gene Symbol: PARD6A   Gene   UCSC   Ensembl
• Aliases: PAR-6A, PAR6, PAR6C, PAR6alpha, TAX40, TIP-40
• Gene name: par-6 family cell polarity regulator alpha
• Alternate names: partitioning defective 6 homolog alpha, PAR-6 alpha, Tax-interacting protein 40, par-6 partitioning defective 6 homolog alpha, partitioning-defective protein 6, tax interaction protein 40,
• Gene location: 16q22.1 (67660955: 67662773)     Exons: 3     NC_000016.10
• Gene summary(Entrez): This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization pro
• OMIM: 607484

Protein Summary

• Protein general information: Q9NPB6  
  • Name: Partitioning defective 6 homolog alpha (PAR 6) (PAR 6 alpha) (PAR 6A) (PAR6C) (Tax interaction protein 40) (TIP 40)
  • Length: 346  
  • Mass: 37388
  • Tissue specificity: Expressed in pancreas, skeletal muscle, brain and heart. Weakly expressed in kidney and placenta.
• Sequence:

  MARPQRTPARSPDSIVEVKSKFDAEFRRFALPRASVSGFQEFSRLLRAVHQIPGLDVLLGYTDAHGDLLPLTNDD
  SLHRALASGPPPLRLLVQKRAEADSSGLAFASNSLQRRKKGLLLRPVAPLRTRPPLLISLPQDFRQVSSVIDVDL
  LPETHRRVRLHKHGSDRPLGFYIRDGMSVRVAPQGLERVPGIFISRLVRGGLAESTGLLAVSDEILEVNGIEVAG
  KTLDQVTDMMVANSHNLIVTVKPANQRNNVVRGASGRLTGPPSAGPGPAEPDSDDDSSDLVIENRQPPSSNGLSQ
  GPPCWDLHPGCRHPGTRSSLPSLDDQEQASSGWGSRIRGDGSGFSL

• Structural information:
  • Protein Domains: (15..9-)
    (/note="PB1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01081-)
    (133..15-)
    (/note="Pseudo-CRIB-)
    (157..25-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR034872  IPR000270  IPR034868  IPR001478  IPR036034  
  • Prosite: PS51745 PS50106
  • CDD: cd06403
  • PDB: 1WMH
  • PDBsum: 1WMH
  • DIP: 31312
  • STRING: ENSP00000219255
• Other Databases: GeneCards:  PARD6A  Malacards:  PARD6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060341	regulation of cellular localization	IBA	biological process
GO:0017048	Rho GTPase binding	IBA	molecular function
GO:0005938	cell cortex	IBA	cellular component
GO:0005080	protein kinase C binding	IBA	molecular function
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0007163	establishment or maintenance of cell polarity	IBA	biological process
GO:0007098	centrosome cycle	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904781	positive regulation of protein localization to centrosome	IMP	biological process
GO:0007098	centrosome cycle	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007163	establishment or maintenance of cell polarity	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008134	transcription factor binding	TAS	molecular function
GO:0016032	viral process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0070830	bicellular tight junction assembly	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050714	positive regulation of protein secretion	IEA	biological process
GO:0045217	cell-cell junction maintenance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030742	GTP-dependent protein binding	IEA	molecular function
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0045217	cell-cell junction maintenance	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0017048	Rho GTPase binding	ISS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0030742	GTP-dependent protein binding	ISS	molecular function
GO:0005923	bicellular tight junction	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04144	Endocytosis
hsa04015	Rap1 signaling pathway
hsa04360	Axon guidance
hsa04530	Tight junction
hsa04390	Hippo signaling pathway

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray