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

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: human all
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Genomic context

Location:: 12 C3; 12 35.51 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PALS1 is a key regulator of the lateral distribution of tight junction proteins in renal epithelial cells.
Title: PALS1 is a key regulator of the lateral distribution of tight junction proteins in renal epithelial cells.
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Title: De novo variants in MPP5 cause global developmental delay and behavioral changes.
Pals1 haploinsufficiency in mouse kidneys associated with the upregulation of Hippo pathway target genes and marker genes of TGF-beta signaling, including biomarkers of renal diseases. These findings support a link between apical polarity proteins and renal diseases, especially renal cyst diseases
Title: Pals1 Haploinsufficiency Results in Proteinuria and Cyst Formation.
This study identifies Pals1 as a novel intrinsic factor that regulates the generation of cerebellar cells and Pals1 deficiency as a potential inhibitor of overactive mitogenic signaling.
Title: The apical complex protein Pals1 is required to maintain cerebellar progenitor cells in a proliferative state.
This paper reveals the role of the canonical polarity protein Pals1 in radial sorting of axons by Schwann cells.
Title: The Polarity Protein Pals1 Regulates Radial Sorting of Axons.
Data show the deletion of Pals1 leads to the disruption of the apical localization of Crb polarity complex proteins Crb1, Crb2 and Crb3 in retinal progenitors and the adult retina.
Title: Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.
Genetic study demonstrates a near-complete abrogation of cortical development in the absence of the apical complex protein Pals1. Despite the absence of most cortical structures, Pals1 CKO mice survive and display relatively normal health.
Title: The apical complex couples cell fate and cell survival to cerebral cortical development.
the importance of a conserved Crumbs-MPP5-EPB41L5 polarity complex in mammals for separation of the apical and basolateral domains through specialized cell-cell junctions
Title: FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
analysis of structures of tetrameric L27 domain complexes formed by mLin-2/mLin-7 and Patj/Pals1 scaffold proteins
Title: A unified assembly mode revealed by the structures of tetrameric L27 domain complexes formed by mLin-2/mLin-7 and Patj/Pals1 scaffold proteins.
RNA interference-induced silencing of the Crb1-interacting-protein Pals1 (protein associated with Lin7; Mpp5) in Muller glial cells resulted in loss of Crb1, Crb2, Mupp1 and Veli3 protein localization and partial loss of Crb3.
Title: Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

43.MMHAP15FRG10.seq (e-PCR)
- UniSTS:124488

NoName (e-PCR)
- UniSTS:236883

NoName (e-PCR)
- UniSTS:236890

RH136034 (e-PCR)
- UniSTS:210029

AI644496 (e-PCR)
- UniSTS:180413

07.MMHAP12FRC7.seq (e-PCR)
- UniSTS:122879

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
involved_in establishment or maintenance of polarity of embryonic epithelium	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in morphogenesis of an epithelial sheet	IBA Inferred from Biological aspect of Ancestor more info
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
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
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	ISO Inferred from Sequence Orthology more info
located_in anchoring junction	IEA Inferred from Electronic Annotation 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 projection	IEA Inferred from Electronic Annotation more info
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
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

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Preferred Names: protein PALS1

Names: MAGUK p55 subfamily member 5; 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)

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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)

NM_019579.3 → NP_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:189 → 237

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12036
Location:349 → 411

SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)

smart00072
Location:491 → 661

GuKc; Guanylate kinase homologues

cd00992
Location:254 → 333

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:123 → 170

L27_N

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

NC_000078.7 Reference GRCm39 C57BL/6J

Range

78795606..78887488

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516097.5 → XP_006516160.1 protein PALS1 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:189 → 237

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12036
Location:349 → 411

SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)

smart00072
Location:491 → 661

GuKc; Guanylate kinase homologues

cd00992
Location:254 → 333

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:123 → 170

L27_N
XM_030246824.2 → XP_030102684.1 protein PALS1 isoform X2

Conserved Domains (5) summary

smart00569
Location:155 → 203

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12036
Location:315 → 377

SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)

smart00072
Location:457 → 627

GuKc; Guanylate kinase homologues

cd00992
Location:220 → 299

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:89 → 136

L27_N
XM_036157538.1 → XP_036013431.1 protein PALS1 isoform X3

Conserved Domains (3) summary

cd12036
Location:75 → 137

SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)

smart00072
Location:217 → 387

GuKc; Guanylate kinase homologues

cd00992
Location:4 → 59

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) ...
XM_017315139.2 → XP_017170628.1 protein PALS1 isoform X3

Conserved Domains (3) summary

cd12036
Location:75 → 137

SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)

smart00072
Location:217 → 387

GuKc; Guanylate kinase homologues

cd00992
Location:4 → 59

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) ...
XM_006516098.3 → XP_006516161.1 protein PALS1 isoform X2

Conserved Domains (5) summary

smart00569
Location:155 → 203

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12036
Location:315 → 377

SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)

smart00072
Location:457 → 627

GuKc; Guanylate kinase homologues

cd00992
Location:220 → 299

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:89 → 136

L27_N