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

    Gene ID: 56513, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 27.7), cerebellum adult (RPKM 26.7) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Pard6a in Genome Data Viewer
    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_000074.7Genomic Context describing neighboring genes Neighboring gene CCCTC-binding factor Neighboring gene STARR-positive B cell enhancer ABC_E5037 Neighboring gene predicted gene, 33578 Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene STARR-positive B cell enhancer ABC_E3798 Neighboring gene RIKEN cDNA 4933405L10 gene Neighboring gene STARR-positive B cell enhancer ABC_E6678 Neighboring gene adrenocortical dysplasia Neighboring gene enkurin domain containing 1 Neighboring gene glucose-fructose oxidoreductase domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E8850

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001047435.2NP_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: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_001047436.2NP_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:140231
      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:579
      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 ...
    3. NM_001286344.1NP_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:971
      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) ...
    4. NM_001286345.1NP_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:126217
      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:1669
      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 ...
    5. NM_019695.3NP_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: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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      106427780..106430126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)