PARD6A par-6 family cell polarity regulator alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARD6Aprovided by HGNC
Official Full Name: par-6 family cell polarity regulator alphaprovided by HGNC
Primary source: HGNC:HGNC:15943
See related: Ensembl:ENSG00000102981 MIM:607484; AllianceGenome:HGNC:15943
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAR6; PAR6C; TAX40; PAR-6A; TIP-40; PAR6alpha
Summary: 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 processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 9.8), brain (RPKM 5.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67660960..67662774)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (73455728..73457542)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67694863..67696677)

Chromosome 16 - NC_000016.10 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
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?

FOXN2, identified as a novel biomarker in serum, modulates the transforming growth factor-beta signaling pathway through its interaction with partitioning defective 6 homolog alpha, contributing to the pathogenesis of gastric cancer.
Title: FOXN2, identified as a novel biomarker in serum, modulates the transforming growth factor-beta signaling pathway through its interaction with partitioning defective 6 homolog alpha, contributing to the pathogenesis of gastric cancer.
Par6 Enhances Glioma Invasion by Activating MEK/ERK Pathway Through a LIN28/let-7d Positive Feedback Loop.
Title: Par6 Enhances Glioma Invasion by Activating MEK/ERK Pathway Through a LIN28/let-7d Positive Feedback Loop.
Partitioning defective 6 homolog alpha (PARD6A) promotes epithelial-mesenchymal transition via integrin beta1-ILK-SNAIL1 pathway in ovarian cancer.
Title: Partitioning defective 6 homolog alpha (PARD6A) promotes epithelial-mesenchymal transition via integrin β1-ILK-SNAIL1 pathway in ovarian cancer.
A polybasic domain in aPKC mediates Par6-dependent control of membrane targeting and kinase activity.
Title: A polybasic domain in aPKC mediates Par6-dependent control of membrane targeting and kinase activity.
The pathological analysis confirmed the correlation between Par6 expression and the prognosis in human glioma tissues, suggesting the regulation of Par6 expression regulates glioma tumorigenesis and progression.
Title: Par6 regulates cell cycle progression through enhancement of Akt/PI3K/GSK-3β signaling pathway activation in glioma.
In Par6A knockout cells, we find that active Cdc42 is more mobile at the apical membrane compared to control cells and that wild type Cdc42 is more diffusely localized throughout the cell, indicating that Par6A is required to restrict Cdc42 signaling.
Title: A Tuba/Cdc42/Par6A complex is required to ensure singularity in apical domain formation during enterocyte polarization.
In T84 cells, overexpression of Par-6 causes intestinal barrier dysfunction. Lipopolysaccharide (LPS)-induced intestinal epithelial barrier dysfunction and increase in Par-6 expression was prevented by AhR activation.
Title: AhR activation protects intestinal epithelial barrier function through regulation of Par-6.
Studies indicate that the PAR3-PAR6-aPKC complex are important for the establishment of neuronal polarity [Review].
Title: PAR3-PAR6-atypical PKC polarity complex proteins in neuronal polarization.
We first demonstrate that Hook2 is essential for the polarized Golgi re-orientation towards the migration front. Depletion of Hook2 results in a decrease of PAR6alpha at the centrosome during cell migration, while overexpression of Hook2 in cells induced the formation of aggresomes with the recruitment of PAR6alpha, aPKC and PAR3
Title: Hook2, a microtubule-binding protein, interacts with Par6α and controls centrosome orientation during polarized cell migration.
Roles of partitioning-defective protein 6 (Par6) and its complexes in the proliferation, migration and invasion of cancer cells
Title: Roles of partitioning-defective protein 6 (Par6) and its complexes in the proliferation, migration and invasion of cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of par-6 family cell polarity regulator alpha (PARD6A) by siRNAs significantly enhances HIV-1 replication in human acute monocytic leukemia cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in centrosome cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in viral process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of PAR polarity complex	IPI Inferred from Physical Interaction more info	PubMed
part_of PAR polarity complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in ruffle	IEA Inferred from Electronic Annotation more info
located_in tight junction	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: partitioning defective 6 homolog alpha

Names: PAR-6 alpha; Tax-interacting protein 40; par-6 partitioning defective 6 homolog alpha; partitioning-defective protein 6; tax interaction protein 40

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_001037281.2 → NP_001032358.1 partitioning defective 6 homolog alpha isoform 2

See identical proteins and their annotated locations for NP_001032358.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a protein (isoform 2) that is one amino acid shorter than isoform 1.

Source sequence(s)

AF252292, BC015626

Consensus CDS

CCDS45514.1

UniProtKB/TrEMBL

R4GMM2

Related

ENSP00000392388.1, ENST00000458121.7

Conserved Domains (2) summary

cd06403
Location:16 → 95

PB1_Par6; The PB1 domain is an essential part of Par6 protein which in complex with Par3 and aPKC proteins is crucial for establishment of apical-basal polarity of animal cells. The PB1 domain is a modular domain mediating specific protein-protein interactions ...

cd00992
Location:155 → 246

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_016948.3 → NP_058644.1 partitioning defective 6 homolog alpha isoform 1

See identical proteins and their annotated locations for NP_058644.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB043634

Consensus CDS

CCDS10843.1

UniProtKB/Swiss-Prot

O14911, Q9NPB6, Q9NPJ7

UniProtKB/TrEMBL

R4GMM2

Related

ENSP00000219255.3, ENST00000219255.3

Conserved Domains (2) summary

cd06403
Location:16 → 95

PB1_Par6; The PB1 domain is an essential part of Par6 protein which in complex with Par3 and aPKC proteins is crucial for establishment of apical-basal polarity of animal cells. The PB1 domain is a modular domain mediating specific protein-protein interactions ...

cd00992
Location:156 → 247

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

67660960..67662774

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005255977.4 → XP_005256034.1 partitioning defective 6 homolog alpha isoform X1

See identical proteins and their annotated locations for XP_005256034.1

UniProtKB/TrEMBL

R4GMM2

Conserved Domains (2) summary

cd06403
Location:16 → 95

PB1_Par6; The PB1 domain is an essential part of Par6 protein which in complex with Par3 and aPKC proteins is crucial for establishment of apical-basal polarity of animal cells. The PB1 domain is a modular domain mediating specific protein-protein interactions ...

cd00992
Location:167 → 258

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_011523095.3 → XP_011521397.1 partitioning defective 6 homolog alpha isoform X2

See identical proteins and their annotated locations for XP_011521397.1

UniProtKB/TrEMBL

R4GMM2

Conserved Domains (2) summary

cd06403
Location:16 → 95

PB1_Par6; The PB1 domain is an essential part of Par6 protein which in complex with Par3 and aPKC proteins is crucial for establishment of apical-basal polarity of animal cells. The PB1 domain is a modular domain mediating specific protein-protein interactions ...

cd00992
Location:166 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_047434186.1 → XP_047290142.1 partitioning defective 6 homolog alpha isoform X3
XM_047434187.1 → XP_047290143.1 partitioning defective 6 homolog alpha isoform X4
XM_047434188.1 → XP_047290144.1 partitioning defective 6 homolog alpha isoform X5
XM_047434189.1 → XP_047290145.1 partitioning defective 6 homolog alpha isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

73455728..73457542

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054380422.1 → XP_054236397.1 partitioning defective 6 homolog alpha isoform X1
XM_054380423.1 → XP_054236398.1 partitioning defective 6 homolog alpha isoform X2
XM_054380427.1 → XP_054236402.1 partitioning defective 6 homolog alpha isoform X6
XM_054380424.1 → XP_054236399.1 partitioning defective 6 homolog alpha isoform X3
XM_054380425.1 → XP_054236400.1 partitioning defective 6 homolog alpha isoform X4
XM_054380426.1 → XP_054236401.1 partitioning defective 6 homolog alpha isoform X5