PALS1
Protein PALS1
Also known as: FLJ12615, MPP5, PALS1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N3R9
- Gene
- PALS1
- Ensembl
- ENSG00000072415
- Chromosome
- 14
- Canonical length
- 675 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cell Junctions,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
675 residues, UniProt reviewed canonical sequence.
>Q8N3R9|PALS1
1 MTTSHMNGHV TEESDSEVKN VDLASPEEHQ KHREMAVDCP GDLGTRMMPI RRSAQLERIR
61 QQQEDMRRRR EEEGKKQELD LNSSMRLKKL AQIPPKTGID NPMFDTEEGI VLESPHYAVK
121 ILEIEDLFSS LKHIQHTLVD SQSQEDISLL LQLVQNKDFQ NAFKIHNAIT VHMNKASPPF
181 PLISNAQDLA QEVQTVLKPV HHKEGQELTA LLNTPHIQAL LLAHDKVAEQ EMQLEPITDE
241 RVYESIGQYG GETVKIVRIE KARDIPLGAT VRNEMDSVII SRIVKGGAAE KSGLLHEGDE
301 VLEINGIEIR GKDVNEVFDL LSDMHGTLTF VLIPSQQIKP PPAKETVIHV KAHFDYDPSD
361 DPYVPCRELG LSFQKGDILH VISQEDPNWW QAYREGDEDN QPLAGLVPGK SFQQQREAMK
421 QTIEEDKEPE KSGKLWCAKK NKKKRKKVLY NANKNDDYDN EEILTYEEMS LYHQPANRKR
481 PIILIGPQNC GQNELRQRLM NKEKDRFASA VPHTTRSRRD QEVAGRDYHF VSRQAFEADI
541 AAGKFIEHGE FEKNLYGTSI DSVRQVINSG KICLLSLRTQ SLKTLRNSDL KPYIIFIAPP
601 SQERLRALLA KEGKNPKPEE LREIIEKTRE MEQNNGHYFD TAIVNSDLDK AYQELLRLIN
661 KLDTEPQWVP STWLRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PALS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- kidney: 29 nTPM
- thyroid gland: 24 nTPM
- epididymis: 20 nTPM
- small intestine: 20 nTPM
- duodenum: 19 nTPM
- liver: 18 nTPM
Single-cell type
- podocytes: 637 nCPM
- epicardial cells: 330 nCPM
- endometrial glandular cells: 227 nCPM
- choroid plexus epithelial cells: 226 nCPM
- enterocytes: 181 nCPM
- esophageal apical cells: 181 nCPM
Immune cell
- NK-cell: 2.2 nTPM
- memory B-cell: 1.1 nTPM
- naive CD4 T-cell: 1.1 nTPM
- intermediate monocyte: 1 nTPM
- eosinophil: 0.8 nTPM
- myeloid DC: 0.8 nTPM
Brain region
- choroid plexus: 57 nTPM
- white matter: 56 nTPM
- basal ganglia: 43 nTPM
- pons: 39 nTPM
- medulla oblongata: 39 nTPM
- spinal cord: 39 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PALS1.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 111 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Anxiety
- Abnormal facial shape
- Arachnoid cyst
- Cerebral palsy
- Intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.24
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- central nervous system neuron development
- cerebral cortex development
- establishment or maintenance of epithelial cell apical/basal polarity
- establishment or maintenance of polarity of embryonic epithelium
- gene expression
- generation of neurons
- morphogenesis of an epithelial sheet
- myelin assembly
- peripheral nervous system myelin maintenance
- protein localization to plasma membrane
- regulation of transforming growth factor beta receptor signaling pathway
- protein localization to myelin sheath abaxonal region
Molecular functions
Cellular components
- adherens junction
- apical junction complex
- apical plasma membrane
- axon
- bicellular tight junction
- cytoplasm
- endoplasmic reticulum-Golgi intermediate compartment membrane
- extracellular exosome
- Golgi apparatus
- lateral loop
- myelin sheath adaxonal region
- perikaryon
- plasma membrane
- protein-containing complex
- Schmidt-Lanterman incisure
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- PDZ domain
- L27 domain
- Guanylate kinase-like domain
- Guanylate kinase/L-type calcium channel beta subunit
- L27 domain, C-terminal
- Guanylate kinase, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- SH3-like domain superfamily
- PDZ superfamily
- L27 domain superfamily
- Membrane-associated guanylate kinase
- PDZ domain
- Guanylate kinase
- L27 domain
- Variant SH3 domain
- L27-N
- MPP5, SH3 domain
- L27_N
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PALS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PALS1 as an antibody target. Whether an autoantibody or antibody against PALS1 could matter depends on whether native PALS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PALS1 is annotated at the cell surface, where native PALS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PALS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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