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

Gene ID: 64398, updated on 26-Nov-2021

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
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
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Genomic context

See PALS1 in Genome Data Viewer
Location:
14q23.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (67241395..67336061)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67708152..67802778)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370538 Neighboring gene Sharpr-MPRA regulatory region 5377 Neighboring gene golgi associated RAB2 interactor family member 2 Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 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

Homology

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
PubMed 
involved_in establishment or maintenance of polarity of embryonic epithelium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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 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
PubMed 
involved_in protein localization to plasma membrane IEA
Inferred from Electronic Annotation
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
PubMed 
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 axon IEA
Inferred from Electronic Annotation
more info
 
located_in bicellular tight junction 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 IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum-Golgi intermediate compartment IEA
Inferred from Electronic Annotation
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
PubMed 
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)

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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/Swiss-Prot
    Q8N3R9
    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
    Q8N3R9
    UniProtKB/TrEMBL
    Q658X5
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    67241395..67336061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537086.2XP_011535388.1  protein PALS1 isoform X1

    See identical proteins and their annotated locations for XP_011535388.1

    UniProtKB/Swiss-Prot
    Q8N3R9
    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
  2. XM_024449691.1XP_024305459.1  protein PALS1 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_024449692.1XP_024305460.1  protein PALS1 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
  4. XM_005268003.1XP_005268060.1  protein PALS1 isoform X2

    See identical proteins and their annotated locations for XP_005268060.1

    UniProtKB/Swiss-Prot
    Q8N3R9
    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_011537087.2XP_011535389.1  protein PALS1 isoform X1

    See identical proteins and their annotated locations for XP_011535389.1

    UniProtKB/Swiss-Prot
    Q8N3R9
    Related
    ENSP00000503321.1, ENST00000678380.1
    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
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