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    Pals1 protein associated with LIN7 1, MAGUK family member [ Mus musculus (house mouse) ]

    Gene ID: 56217, updated on 26-Sep-2022

    Summary

    Official Symbol
    Pals1provided by MGI
    Official Full Name
    protein associated with LIN7 1, MAGUK family memberprovided by MGI
    Primary source
    MGI:MGI:1927339
    See related
    Ensembl:ENSMUSG00000021112 AllianceGenome:MGI:1927339
    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
    Mpp5; 3830420B02Rik
    Summary
    Predicted to enable guanylate kinase activity and protein domain specific binding activity. Involved in nervous system development; protein localization to myelin sheath abaxonal region; and regulation of transforming growth factor beta receptor signaling pathway. Acts upstream of or within cellular protein localization; gene expression; and plasma membrane organization. Located in several cellular components, including Schmidt-Lanterman incisure; lateral loop; and myelin sheath adaxonal region. Is expressed in several structures, including cerebral cortex; early conceptus; eye; and future spinal cord neural plate. Used to study Leber congenital amaurosis. Orthologous to human PALS1 (protein associated with LIN7 1, MAGUK p55 family member). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 4.8), CNS E11.5 (RPKM 4.1) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Pals1 in Genome Data Viewer
    Location:
    12; 12 C3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (78795606..78887488)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (78748882..78840714)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene eukaryotic translation initiation factor 5 pseudogene Neighboring gene golgi associated RAB2 interactor 2 Neighboring gene ATPase, H+ transporting, lysosomal V1 subunit D Neighboring gene eukaryotic translation initiation factor 2, subunit 1 alpha

    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 (1)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanylate kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in central nervous system neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in establishment or maintenance of polarity of embryonic epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in generation of neurons IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in morphogenesis of an epithelial sheet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in morphogenesis of an epithelial sheet ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in myelin assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peripheral nervous system myelin maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within plasma membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to myelin sheath abaxonal region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Schmidt-Lanterman incisure IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lateral loop IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in myelin sheath adaxonal region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    protein PALS1; MAGUK p55 subfamily member 5
    Names
    membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 5)
    membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
    protein associated with Lin-7 1

    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_019579.3NP_062525.1  protein PALS1

      See identical proteins and their annotated locations for NP_062525.1

      Status: VALIDATED

      Source sequence(s)
      AK032731, AK040265, AK133187, AW488563, BB858385, BC138624
      Consensus CDS
      CCDS26001.1
      UniProtKB/Swiss-Prot
      Q9JLB2
      UniProtKB/TrEMBL
      B2RRY4
      Related
      ENSMUSP00000080683.6, ENSMUST00000082024.7
      Conserved Domains (5) summary
      smart00569
      Location:189237
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12036
      Location:349411
      SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
      smart00072
      Location:491661
      GuKc; Guanylate kinase homologues
      cd00992
      Location:254333
      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) ...
      pfam09060
      Location:123170
      L27_N

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      78795606..78887488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516097.5XP_006516160.1  MAGUK p55 subfamily member 5 isoform X1

      See identical proteins and their annotated locations for XP_006516160.1

      UniProtKB/Swiss-Prot
      Q9JLB2
      UniProtKB/TrEMBL
      B2RRY4
      Conserved Domains (5) summary
      smart00569
      Location:189237
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12036
      Location:349411
      SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
      smart00072
      Location:491661
      GuKc; Guanylate kinase homologues
      cd00992
      Location:254333
      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) ...
      pfam09060
      Location:123170
      L27_N
    2. XM_030246824.2XP_030102684.1  MAGUK p55 subfamily member 5 isoform X2

      Conserved Domains (5) summary
      smart00569
      Location:155203
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12036
      Location:315377
      SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
      smart00072
      Location:457627
      GuKc; Guanylate kinase homologues
      cd00992
      Location:220299
      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) ...
      pfam09060
      Location:89136
      L27_N
    3. XM_036157538.1XP_036013431.1  MAGUK p55 subfamily member 5 isoform X3

      Conserved Domains (3) summary
      cd12036
      Location:75137
      SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
      smart00072
      Location:217387
      GuKc; Guanylate kinase homologues
      cd00992
      Location:459
      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. XM_017315139.2XP_017170628.1  MAGUK p55 subfamily member 5 isoform X3

      Conserved Domains (3) summary
      cd12036
      Location:75137
      SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
      smart00072
      Location:217387
      GuKc; Guanylate kinase homologues
      cd00992
      Location:459
      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) ...
    5. XM_006516098.3XP_006516161.1  MAGUK p55 subfamily member 5 isoform X2

      Conserved Domains (5) summary
      smart00569
      Location:155203
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12036
      Location:315377
      SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
      smart00072
      Location:457627
      GuKc; Guanylate kinase homologues
      cd00992
      Location:220299
      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) ...
      pfam09060
      Location:89136
      L27_N