PALS1 - protein associated with LIN7 1, MAGUK p55 family member Gene

Homo sapiens

Also known as MPP5

Gene ID: 64398 | Gene type: protein coding

About PALS1

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:67,241,435-67,336,061 (from NCBI)

This gene has 13 transcripts (splice variants), 278 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 15.8), thyroid (RPKM 14.7) and 25 other tissues.

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]

PALS1 Products(2)

mRNA	Protein	Name
NM_001256550.2	NP_001243479.1	protein PALS1 isoform 2
NM_022474.4	NP_071919.2	protein PALS1 isoform 1

PALS1 Protein Structure

L27_N

L27

PDZ

SH3_2

Guanylate_kin

0
200
400
600
675 a.a.

Protein Preferred Names

Protein Names

protein PALS1

MAGUK p55 subfamily member 5

Related Diseases

Diseases

Alias

Arachnoid Cysts, Intracranial

Arachnoid Cyst	Arachnoid Cysts
Intracranial Arachnoid Cysts	Arachnoid Brain Cyst
Arachnoid Cerebral Cyst	Intracranium Cyst Nos

Anxiety

Anxiety Disorder	Anxiety Disorders
Anxiety State	Anxieties
Anxiety Neurosis

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Retinitis Pigmentosa 12

RP12	Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium	Rp With Or Without Pprpe
Retinitis Pigmentosa-12

Retinal Degeneration

Degeneration Of Retina

Intraorbital Meningioma

Endometrial Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Endometrium	Adenosquamous Carcinoma Of The Endometrium
Endometrial Adenosquamous Cancer	Endometrial Adenosquamous Cell Carcinoma

Nephronophthisis 7

NPHP7

Nephronophthisis, Type 7

Leber Congenital Amaurosis 8

LCA8	Leber Congenital Amaurosis, Type 8

Central Sleep Apnea

Central Sleep Apnea Syndrome	Sleep Apnea, Central
Primary Central Sleep Apnea	Central Sleep Apnea, Primary
Central Sleep Apnoea Syndrome	Csa - [Central Sleep Apnoea]
Csas - [Central Sleep Apnoea Syndrome]	Central Sleep Apnoea Due To Substances Including Medications

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10009	PALS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PALS1	RGD	RGD:1308071
Macaca mulatta	PALS1	VGNC	VGNC:74794
Canis familiaris	PALS1	VGNC	VGNC:43346
Felis catus	PALS1	VGNC	VGNC:80910
Bos taurus	PALS1	VGNC	VGNC:31584
Mus musculus	PALS1	MGD	MGI:1927339

Name
Email *

	Sorry, but the email address you supplied was invalid.