InnateDB Protein
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IDBP-598763.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PRICKLE1
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Protein Name
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prickle homolog 1 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000448359
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InnateDB Gene
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IDBG-27853 (PRICKLE1)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus membrane {ECO:0000269PubMed:14645515}. Cytoplasm, cytosol {ECO:0000269PubMed:14645515}. Note=A smaller amount is detected in the cytosol.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
GO:0001843
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neural tube closure
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GO:0006606
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protein import into nucleus
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GO:0031398
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positive regulation of protein ubiquitination
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GO:0032436
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positive regulation of proteasomal ubiquitin-dependent protein catabolic process
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GO:0045892
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negative regulation of transcription, DNA-templated
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GO:0090090
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negative regulation of canonical Wnt signaling pathway
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GO:2000691
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negative regulation of cardiac muscle cell myoblast differentiation
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Cellular Component |
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PDB ID |
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InterPro |
IPR001781
Zinc finger, LIM-type
IPR010442
PET domain
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PFAM |
PF00412
PF06297
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PRINTS |
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PIRSF |
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SMART |
SM00132
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TIGRFAMs |
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Modification |
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SwissProt |
Q96MT3
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PhosphoSite |
PhosphoSite-Q96MT3
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TrEMBL |
Q687H4
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UniProt Splice Variant |
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Entrez Gene |
144165
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UniGene |
Hs.720221
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RefSeq |
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HUGO |
HGNC:17019
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OMIM |
608500
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CCDS |
CCDS8742
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HPRD |
16341
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IMGT |
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EMBL |
AC079600
AC079601
AF399844
AF543759
AF543760
AK056189
AK056499
BC114939
BC114940
CH471111
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GenPept |
AAI14940
AAI14941
AAQ03035
AAQ11824
AAQ11825
BAB71116
BAB71198
EAW57854
EAW57855
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