Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64398
Gene name	Protein associated with LIN7 1, MAGUK p55 family member
Gene symbol	PALS1
Synonyms (NCBI Gene)	MPP5
Chromosome	14
Chromosome location	14q23.3
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

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002011	Process	Morphogenesis of an epithelial sheet	IBA
GO:0002011	Process	Morphogenesis of an epithelial sheet	IMP	23201090
GO:0005515	Function	Protein binding	IPI	11927608, 15914641, 16519681, 17584769, 17920587, 20861307, 21481793, 24366813, 25416956, 31515488, 32296183, 32814053, 32822073, 33758649, 33961781, 34103506
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	15914641
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	NAS	19625503, 26404741, 28424578
GO:0016332	Process	Establishment or maintenance of polarity of embryonic epithelium	IBA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0019904	Function	Protein domain specific binding	IPI	17332497
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030424	Component	Axon	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0032288	Process	Myelin assembly	IEA
GO:0032991	Component	Protein-containing complex	IDA	15914641
GO:0032991	Component	Protein-containing complex	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035749	Component	Myelin sheath adaxonal region	IEA
GO:0035750	Process	Protein localization to myelin sheath abaxonal region	IEA
GO:0042802	Function	Identical protein binding	IPI	15914641, 34103506
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043219	Component	Lateral loop	IEA
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0043296	Component	Apical junction complex	NAS	19625503, 26404741, 28424578
GO:0045177	Component	Apical part of cell	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	19625503, 26404741, 28424578
GO:0048699	Process	Generation of neurons	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IEA

MIM	HGNC	e!Ensembl
606958	18669	ENSG00000072415

Q8N3R9

Protein name

Protein PALS1 (MAGUK p55 subfamily member 5) (Membrane protein, palmitoylated 5) (Protein associated with Lin-7 1)

Protein function

Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (PubMed:16678097, PubMed:25385611). Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex pro

PDB

1Y76 , 3UIT , 4UU5 , 4UU6 , 4WSI , 7M4R , 7NTJ , 7NTK , 7QCS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09060	L27_N	123 → 170	L27_N	Domain
PF02828	L27	183 → 233	L27 domain	Domain
PF00595	PDZ	256 → 333	PDZ domain	Domain
PF07653	SH3_2	349 → 415	Variant SH3 domain	Domain
PF00625	Guanylate_kin	478 → 662	Guanylate kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at the outer limiting membrane in the retina (at protein level) (PubMed:15558731, PubMed:15914641, PubMed:16519681, PubMed:17584769). Expressed in T lymphocytes (at protein level) (PubMed:21479189). Expressed in the kidney (a

Sequence

MTTSHMNGHVTEESDSEVKNVDLASPEEHQKHREMAVDCPGDLGTRMMPIRRSAQLERIR
QQQEDMRRRREEEGKKQELDLNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVK
ILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQNAFKIHNAITVHMNKASPPF
PLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDE
VLEINGIEIRGKDVNEVFDLLSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSD
DPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDNQPLAGLVPGKSFQQQREAMK
QTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADI
AAGKFIEHGEFEKNLYGTSIDSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPP
SQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFDTAIVNSDLDKAYQELLRLIN
KLDTEPQWVPSTWLR

Sequence length

675

Interactions

View interactions

	KEGG		Reactome
	Hippo signaling pathway Tight junction Human papillomavirus infection		Tight junction interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Pathogenic	rs2085184370	RCV001263096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anxiety	Pathogenic	rs2085184370	RCV001263096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arachnoid cyst	Pathogenic	rs2085184370	RCV001263096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Pathogenic	rs2085184370	RCV001263096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs2085184370	RCV001263096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARACHNOID CYSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Rett syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PALS1-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, ATYPICAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PALS1 (protein associated with LIN7 1, MAGUK p55 family member)