InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRICKLE1

Summary

InnateDB Protein

IDBP-603183.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRICKLE1

Protein Name

prickle homolog 1 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000449819

InnateDB Gene

IDBG-27853 (PRICKLE1)

Protein Structure

UniProt Annotation

Function

Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor. {ECO:0000269PubMed:21901791}.

Subcellular Localization

Nucleus membrane {ECO:0000269PubMed:14645515}. Cytoplasm, cytosol {ECO:0000269PubMed:14645515}. Note=A smaller amount is detected in the cytosol.

Disease Associations

Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. {ECO:0000269PubMed:18976727, ECO:0000269PubMed:21276947}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269PubMed:21901791}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia). {ECO:0000269PubMed:12525887, ECO:0000269PubMed:14645515, ECO:0000269PubMed:18976727}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0001843	neural tube closure
GO:0006606	protein import into nucleus
GO:0031398	positive regulation of protein ubiquitination
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0045892	negative regulation of transcription, DNA-templated
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:2000691	negative regulation of cardiac muscle cell myoblast differentiation