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

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: mouse all
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Genomic context

Location:: 14q23.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67241435..67336061)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (61448560..61543185)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (67708152..67802778)

Chromosome 14 - NC_000014.9 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order to prevent Rac1-dependent colorectal cancer cell migration and invasion.
Title: Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order to prevent Rac1-dependent colorectal cancer cell migration and invasion.
Pals1 prevents Rac1-dependent colorectal cancer cell metastasis by inhibiting Arf6.
Title: Pals1 prevents Rac1-dependent colorectal cancer cell metastasis by inhibiting Arf6.
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.
Structural basis of coronavirus E protein interactions with human PALS1 PDZ domain.
Title: Structural basis of coronavirus E protein interactions with human PALS1 PDZ domain.
Structural basis for SARS-CoV-2 envelope protein recognition of human cell junction protein PALS1.
Title: Structural basis for SARS-CoV-2 envelope protein recognition of human cell junction protein PALS1.
Comparing the binding properties of peptides mimicking the Envelope protein of SARS-CoV and SARS-CoV-2 to the PDZ domain of the tight junction-associated PALS1 protein.
Title: Comparing the binding properties of peptides mimicking the Envelope protein of SARS-CoV and SARS-CoV-2 to the PDZ domain of the tight junction-associated PALS1 protein.
Removal of this side chain enhances the binding affinity by more than fivefold, suggesting that access of Crb to Pals1 may be regulated by intradomain contacts or by protein-protein interaction.
Title: Structures of the human Pals1 PDZ domain with and without ligand suggest gated access of Crb to the PDZ peptide-binding groove.
The unique in-frame MPP5-FAM71D fusion product is important for proliferation of PC346C cells.
Title: Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer.
the crystal structure of a 4-L27 domain-containing heterotrimer derived from the tripartite complex Patj/Pals1/Mals2
Title: Structure of an L27 domain heterotrimer from cell polarity complex Patj/Pals1/Mals2 reveals mutually independent L27 domain assembly mode.
Crystals of tripartite complex 1 of L27(PATJ)-(L27N,L27C)(Pals1)-L27(MALS) diffracted to 2.05 A resolution
Title: Crystallization and preliminary X-ray data collection of the L27(PATJ)-(L27N,L27C)(Pals1)-L27(MALS) tripartite complex.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35782 (e-PCR)
- UniSTS:46613

RH69567 (e-PCR)
- UniSTS:16922

RH46030 (e-PCR)
- UniSTS:79909

A004Z21 (e-PCR)
- UniSTS:58952

RH104059 (e-PCR)
- UniSTS:98384

SHGC-106011 (e-PCR)
- UniSTS:169583

RH122492 (e-PCR)
- UniSTS:135365

C013YC9 (e-PCR)
- UniSTS:14581

WI-18606 (e-PCR)
- UniSTS:63221

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 more info	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

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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)

NM_001256550.2 → NP_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: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
NM_022474.4 → NP_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: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_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

67241435..67336061

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431691.1 → XP_047287647.1 protein PALS1 isoform X1

UniProtKB/Swiss-Prot

A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0

Related

ENSP00000503321.1, ENST00000678380.1
XM_047431692.1 → XP_047287648.1 protein PALS1 isoform X1

UniProtKB/Swiss-Prot

A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
XM_011537086.3 → XP_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: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_024449691.2 → XP_024305459.1 protein PALS1 isoform X2

UniProtKB/TrEMBL

A8K5C5, Q4VBP4

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_047431696.1 → XP_047287652.1 protein PALS1 isoform X3
XM_024449692.2 → XP_024305460.1 protein PALS1 isoform X2

UniProtKB/TrEMBL

A8K5C5, Q4VBP4

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_047431693.1 → XP_047287649.1 protein PALS1 isoform X1

UniProtKB/Swiss-Prot

A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
XM_047431690.1 → XP_047287646.1 protein PALS1 isoform X1

UniProtKB/Swiss-Prot

A1L380, Q7Z631, Q86T98, Q8N3R9, Q8N7I5, Q9H9Q0
XM_047431695.1 → XP_047287651.1 protein PALS1 isoform X2
XM_011537087.3 → XP_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: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_005268003.2 → XP_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: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