Format

Send to:

Choose Destination

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

Gene ID: 50855, updated on 21-Dec-2019

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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67660956..67662774)
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 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 Functions

What'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 PubChem

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 
positive regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
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_001037281.2NP_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_016948.3NP_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
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    67660956..67662774
    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) ...
Support Center