Pard6a par-6 family cell polarity regulator alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pard6aprovided by MGI
Official Full Name: par-6 family cell polarity regulator alphaprovided by MGI
Primary source: MGI:MGI:1927223
See related: Ensembl:ENSMUSG00000005699 AllianceGenome:MGI:1927223
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: Par6; Par-6; Par6c; TAX40; PAR-6A; Tip-40; PAR6alpha; 0710008C04Rik; 2610010A15Rik
Summary: Enables GTP-dependent protein binding activity and small GTPase binding activity. Involved in cell-cell junction maintenance and positive regulation of protein secretion. Acts upstream of or within negative regulation of protein phosphorylation. Located in bicellular tight junction; cell cortex; and nucleus. Is expressed in several structures, including 2-cell stage conceptus; brain; genitourinary system; gut; and lung. Orthologous to human PARD6A (par-6 family cell polarity regulator alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 27.7), cerebellum adult (RPKM 26.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.04 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (106427780..106430126)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (105701148..105703494)

Chromosome 8 - NC_000074.7 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: 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?

Lgl1 forms two distinct complexes in vivo, Lgl1-NMIIA and Lgl1-Par6alpha-aPKCzeta, and that the formation of these complexes is affected by the phosphorylation state of Lgl1.
Title: The tumor suppressor Lgl1 forms discrete complexes with NMII-A and Par6α-aPKCζ that are affected by Lgl1 phosphorylation.
Our results provide the first in vivo characterization of RalA function in the mammalian brain and highlight a novel
Title: RalA promotes a direct exocyst-Par6 interaction to regulate polarity in neuronal development.
The nucleus of a myoblast moves rapidly after fusion towards the central myotube nuclei which is driven by microtubules and dynein/dynactin complex, and requires Cdc42, Par6 and Par3.
Title: Nuclear movement during myotube formation is microtubule and dynein dependent and is regulated by Cdc42, Par6 and Par3.
PAR6 has a role in forming primordial follicles in mouse ovary
Title: PAR6, a potential marker for the germ cells selected to form primordial follicles in mouse ovary.
the TGFbeta-Par6 polarity pathway has a role in breast cancer progression
Title: A role for the TGFbeta-Par6 polarity pathway in breast cancer progression.
The aPKC-PAR3 complex associates with the nephrin-podocin complex in podocytes through direct interaction between PAR3 and nephrin, and the kinase activity of aPKC is required for the appropriate distribution of nephrin and podocin in podocytes.
Title: An essential role of the universal polarity protein, aPKClambda, on the maintenance of podocyte slit diaphragms.
Neph1-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity
Title: Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity.
In addition to regulating Par-6-aPKC localization, Cdc42 increases aPKC activity by relieving Par-6 inhibition.
Title: Cdc42 acts downstream of Bazooka to regulate neuroblast polarity through Par-6 aPKC.
During neuronal migration the centrosome acts to coordinate cytoskeletal dynamics in response to mPar6alpha-mediated signaling.
Title: Par6alpha signaling controls glial-guided neuronal migration.
Rin and Rit Bind to PAR6 GTP-dependently and regulate cell transformation
Title: Small GTPase proteins Rin and Rit Bind to PAR6 GTP-dependently and regulate cell transformation.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI606951 (e-PCR)
- UniSTS:164390

Acd (e-PCR), detects polymorphism
- UniSTS:467522

Acd (e-PCR), detects polymorphism
- UniSTS:467525

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
part_of PAR polarity complex	IEA Inferred from Electronic Annotation more info
part_of PAR polarity complex	ISO Inferred from Sequence Orthology more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in axonal growth cone	ISO Inferred from Sequence Orthology more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	TAS Traceable Author Statement more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: partitioning defective 6 homolog alpha

Names: PAR-6 alpha; Tax interaction protein 40; par-6 (partitioning defective 6,) homolog alpha

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_001047435.2 → NP_001040900.1 partitioning defective 6 homolog alpha isoform 2

See identical proteins and their annotated locations for NP_001040900.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC152826, AK158848, BF466814

Consensus CDS

CCDS85601.1

UniProtKB/TrEMBL

A0A1D5RLU4, Q3TY70

Related

ENSMUSP00000148603.2, ENSMUST00000212430.2

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_001047436.2 → NP_001040901.1 partitioning defective 6 homolog alpha isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon. This encodes a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC152826, AK158848, BF466814, CX220562

Consensus CDS

CCDS40462.1

UniProtKB/TrEMBL

A0A1D5RLU4, D3Z2R1

Related

ENSMUSP00000096043.3, ENSMUST00000098444.9

Conserved Domains (2) summary

cd00992
Location:140 → 231

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) ...

cl02720
Location:5 → 79

PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...
NM_001286344.1 → NP_001273273.1 partitioning defective 6 homolog alpha isoform 4

See identical proteins and their annotated locations for NP_001273273.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon. This encodes a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AK158848, BF466814, BY099545, CK618363

UniProtKB/TrEMBL

Q3TY70

Conserved Domains (1) summary

cd00992
Location:9 → 71

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_001286345.1 → NP_001273274.1 partitioning defective 6 homolog alpha isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice site in the coding region, compared to variant 1. This encodes a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AC152826, AK158848, BF466814, CX206739

Consensus CDS

CCDS85600.1

UniProtKB/TrEMBL

A0A1D5RLU4

Related

ENSMUSP00000148821.2, ENSMUST00000211888.2

Conserved Domains (2) summary

cd00992
Location:126 → 217

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) ...

cl02720
Location:16 → 69

PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...
NM_019695.3 → NP_062669.2 partitioning defective 6 homolog alpha isoform 1

See identical proteins and their annotated locations for NP_062669.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1).

Source sequence(s)

AC152826, AK158848, BF466814, CX206739

Consensus CDS

CCDS22609.1

UniProtKB/Swiss-Prot

Q5RL03, Q6P8R2, Q9Z101

UniProtKB/TrEMBL

A0A1D5RLU4

Related

ENSMUSP00000090886.7, ENSMUST00000093195.7

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: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) ...