U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    PALS1 protein associated with LIN7 1, MAGUK p55 family member [ Homo sapiens (human) ]

    Gene ID: 64398, updated on 3-Dec-2024

    Summary

    Official Symbol
    PALS1provided by HGNC
    Official Full Name
    protein associated with LIN7 1, MAGUK p55 family memberprovided by HGNC
    Primary source
    HGNC:HGNC:18669
    See related
    Ensembl:ENSG00000072415 MIM:606958; AllianceGenome:HGNC:18669
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MPP5
    Summary
    This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in kidney (RPKM 15.8), thyroid (RPKM 14.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PALS1 in Genome Data Viewer
    Location:
    14q23.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67241435..67336061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61448560..61543185)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67708152..67802778)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene uncharacterized LOC124903330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5855 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:67723162-67723330 Neighboring gene MPRA-validated peak2181 silencer Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene golgi associated RAB2 interactor family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67825632-67826418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8578 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36264 Neighboring gene ATPase H+ transporting V1 subunit D Neighboring gene eukaryotic translation initiation factor 2 subunit alpha

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in central nervous system neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in establishment or maintenance of polarity of embryonic epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in generation of neurons IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in morphogenesis of an epithelial sheet IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in morphogenesis of an epithelial sheet IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myelin assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system myelin maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to myelin sheath abaxonal region IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Schmidt-Lanterman incisure IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical junction complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in apical plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in lateral loop IEA
    Inferred from Electronic Annotation
    more info
     
    located_in myelin sheath adaxonal region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein PALS1
    Names
    MAGUK p55 subfamily member 5
    membrane palmitoylated protein 5
    membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
    protein associated with LIN7 1, MAGUK family member
    protein associated with Lin-7 1
    protein associated with lin seven 1
    stardust

    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_001256550.2NP_001243479.1  protein PALS1 isoform 2

      See identical proteins and their annotated locations for NP_001243479.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL139785, AL832578, DA095710, DR003886
      Consensus CDS
      CCDS58325.1
      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
      Related
      ENSP00000451488.1, ENST00000555925.5
      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
    2. NM_022474.4NP_071919.2  protein PALS1 isoform 1

      See identical proteins and their annotated locations for NP_071919.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AI245706, AL139785, AL832578, AL832936, BC053366
      Consensus CDS
      CCDS9779.1
      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
      Related
      ENSP00000261681.4, ENST00000261681.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67241435..67336061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431691.1XP_047287647.1  protein PALS1 isoform X1

      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
      Related
      ENSP00000503321.1, ENST00000678380.1
    2. XM_047431692.1XP_047287648.1  protein PALS1 isoform X1

      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
    3. XM_011537086.3XP_011535388.1  protein PALS1 isoform X1

      See identical proteins and their annotated locations for XP_011535388.1

      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
      Related
      ENSP00000503713.1, ENST00000676464.1
      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
    4. XM_024449691.2XP_024305459.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
      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
    5. XM_047431696.1XP_047287652.1  protein PALS1 isoform X3

      UniProtKB/TrEMBL
      Q658X5
    6. XM_024449692.2XP_024305460.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
      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
    7. XM_047431693.1XP_047287649.1  protein PALS1 isoform X1

      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
    8. XM_047431690.1XP_047287646.1  protein PALS1 isoform X1

      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
    9. XM_047431695.1XP_047287651.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
    10. XM_011537087.3XP_011535389.1  protein PALS1 isoform X1

      See identical proteins and their annotated locations for XP_011535389.1

      UniProtKB/Swiss-Prot
      A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
      UniProtKB/TrEMBL
      Q4VBP4
      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
    11. XM_005268003.2XP_005268060.1  protein PALS1 isoform X2

      See identical proteins and their annotated locations for XP_005268060.1

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61448560..61543185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376594.1XP_054232569.1  protein PALS1 isoform X1

      UniProtKB/TrEMBL
      Q4VBP4
    2. XM_054376593.1XP_054232568.1  protein PALS1 isoform X1

      UniProtKB/TrEMBL
      Q4VBP4
    3. XM_054376599.1XP_054232574.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
    4. XM_054376603.1XP_054232578.1  protein PALS1 isoform X3

      UniProtKB/TrEMBL
      Q658X5
    5. XM_054376596.1XP_054232571.1  protein PALS1 isoform X1

      UniProtKB/TrEMBL
      Q4VBP4
    6. XM_054376602.1XP_054232577.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
    7. XM_054376598.1XP_054232573.1  protein PALS1 isoform X1

      UniProtKB/TrEMBL
      Q4VBP4
    8. XM_054376597.1XP_054232572.1  protein PALS1 isoform X1

      UniProtKB/TrEMBL
      Q4VBP4
    9. XM_054376600.1XP_054232575.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
    10. XM_054376601.1XP_054232576.1  protein PALS1 isoform X2

      UniProtKB/TrEMBL
      A8K5C5, Q4VBP4
    11. XM_054376595.1XP_054232570.1  protein PALS1 isoform X1

      UniProtKB/TrEMBL
      Q4VBP4