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

Gene ID: 50855, updated on 9-Dec-2018

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
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

Genomic context

See PARD6A in Genome Data Viewer
Location:
16q22.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (67660948..67662778)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67694851..67696681)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984813 Neighboring gene CCCTC-binding factor Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene chromosome 16 open reading frame 86 Neighboring gene ACD shelterin complex subunit and telomerase recruitment factor Neighboring gene enkurin domain containing 1 Neighboring gene glucose-fructose oxidoreductase domain containing 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

  • Asymmetric localization of PCP proteins, organism-specific biosystem (from REACTOME)
    Asymmetric localization of PCP proteins, organism-specific biosystemOne of the hallmarks of the Planar Cell Polarity pathway is the asymmetric distribution of proteins on opposite membranes of a single cell. In Drosophila, Stbm and Pk (homologues to the human VANGL1/...
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    CDC42 signaling events, organism-specific biosystem
    CDC42 signaling events
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
    Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
    Insulin Pathway, organism-specific biosystem
    Insulin Pathway
  • Nephrin/Neph1 signaling in the kidney podocyte, organism-specific biosystem (from Pathway Interaction Database)
    Nephrin/Neph1 signaling in the kidney podocyte, organism-specific biosystem
    Nephrin/Neph1 signaling in the kidney podocyte
  • PCP/CE pathway, organism-specific biosystem (from REACTOME)
    PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • RhoA signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    RhoA signaling pathway, organism-specific biosystem
    RhoA signaling pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
    Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystem (from REACTOME)
    TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystemIn normal cells and in the early stages of cancer development, signaling by TGF-beta plays a tumor suppressive role, as SMAD2/3:SMAD4-mediated transcription inhibits cell division by downregulating M...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction interactions, organism-specific biosystem (from REACTOME)
    Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-dependent protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Rho GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rho GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
bicellular tight junction assembly TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment or maintenance of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_001037281.1NP_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/Swiss-Prot
    Q9NPB6
    Related
    ENSP00000392388.1, ENST00000458121.6
    Conserved Domains (2) summary
    cd06403
    Location:1695
    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:155246
    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) ...
  2. NM_016948.2NP_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, AF252292, BC015626
    Consensus CDS
    CCDS10843.1
    UniProtKB/Swiss-Prot
    Q9NPB6
    Related
    ENSP00000219255.3, ENST00000219255.3
    Conserved Domains (2) summary
    cd06403
    Location:1695
    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:156247
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    67660948..67662778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255977.3XP_005256034.1  partitioning defective 6 homolog alpha isoform X1

    See identical proteins and their annotated locations for XP_005256034.1

    Conserved Domains (2) summary
    cd06403
    Location:1695
    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:167258
    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) ...
  2. XM_011523095.2XP_011521397.1  partitioning defective 6 homolog alpha isoform X2

    See identical proteins and their annotated locations for XP_011521397.1

    Conserved Domains (2) summary
    cd06403
    Location:1695
    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:166257
    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) ...
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