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PRICKLE1
HPA
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  • SUMMARY

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  • PRICKLE1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PRICKLE1
Synonyms EPM1B, FLJ31937, RILP
Gene descriptioni

Full gene name according to HGNC.

Prickle planar cell polarity protein 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 12
Cytoband q12
Chromosome location (bp) 42456757 - 42590355
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

15
Ensembl ENSG00000139174 (version 109)
Entrez gene 144165
HGNC HGNC:17019
UniProt Q96MT3 (UniProt - Evidence at protein level)
neXtProt NX_Q96MT3
GeneCards PRICKLE1
Antibodypedia PRICKLE1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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.... show less
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Metal-binding, Zinc
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PRICKLE1-201
ENSP00000345064
ENST00000345127
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000502 [proteasome complex]
GO:0001843 [neural tube closure]
GO:0001894 [tissue homeostasis]
GO:0003151 [outflow tract morphogenesis]
GO:0003402 [planar cell polarity pathway involved in axis elongation]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0006915 [apoptotic process]
GO:0007010 [cytoskeleton organization]
GO:0007163 [establishment or maintenance of cell polarity]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007409 [axonogenesis]
GO:0007507 [heart development]
GO:0008219 [cell death]
GO:0008270 [zinc ion binding]
GO:0009410 [response to xenobiotic stimulus]
GO:0009887 [animal organ morphogenesis]
GO:0009888 [tissue development]
GO:0010467 [gene expression]
GO:0016020 [membrane]
GO:0016043 [cellular component organization]
GO:0016055 [Wnt signaling pathway]
GO:0016192 [vesicle-mediated transport]
GO:0016358 [dendrite development]
GO:0016477 [cell migration]
GO:0030010 [establishment of cell polarity]
GO:0030282 [bone mineralization]
GO:0030326 [embryonic limb morphogenesis]
GO:0030705 [cytoskeleton-dependent intracellular transport]
GO:0031175 [neuron projection development]
GO:0031254 [cell trailing edge]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0035108 [limb morphogenesis]
GO:0035264 [multicellular organism growth]
GO:0035880 [embryonic nail plate morphogenesis]
GO:0035904 [aorta development]
GO:0036342 [post-anal tail morphogenesis]
GO:0042733 [embryonic digit morphogenesis]
GO:0044782 [cilium organization]
GO:0044877 [protein-containing complex binding]
GO:0045184 [establishment of protein localization]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0048812 [neuron projection morphogenesis]
GO:0051602 [response to electrical stimulus]
GO:0055013 [cardiac muscle cell development]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0060173 [limb development]
GO:0060271 [cilium assembly]
GO:0060325 [face morphogenesis]
GO:0060485 [mesenchyme development]
GO:0060976 [coronary vasculature development]
GO:0061029 [eyelid development in camera-type eye]
GO:0061159 [establishment of bipolar cell polarity involved in cell morphogenesis]
GO:0061303 [cornea development in camera-type eye]
GO:0061326 [renal tubule development]
GO:0061865 [polarized secretion of basement membrane proteins in epithelium]
GO:0070075 [tear secretion]
GO:0071711 [basement membrane organization]
GO:0085029 [extracellular matrix assembly]
GO:0090009 [primitive streak formation]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090307 [mitotic spindle assembly]
GO:0098609 [cell-cell adhesion]
GO:0120181 [focal adhesion disassembly]
GO:1905070 [anterior visceral endoderm cell migration]
GO:1990138 [neuron projection extension]
GO:1990403 [embryonic brain development]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-202
ENSP00000398947
ENST00000445766
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-203
ENSP00000401060
ENST00000455697
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-204
ENSP00000446699
ENST00000547113
F8W1Q8
[Direct mapping] Prickle-like protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Show all
GO:0008270 [zinc ion binding]
Show all
109 aa
12.6 kDa
No 0
PRICKLE1-205
ENSP00000448359
ENST00000548696
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-206
ENSP00000446970
ENST00000551050
F8W1J1
[Direct mapping] Prickle-like protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Show all
GO:0008270 [zinc ion binding]
Show all
119 aa
13.7 kDa
No 0
PRICKLE1-207
ENSP00000447870
ENST00000552108
F8VUG8
[Direct mapping] Prickle-like protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
163 aa
18.3 kDa
No 0
PRICKLE1-209
ENSP00000449819
ENST00000552240
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-211
ENSP00000492332
ENST00000639566
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-213
ENSP00000491051
ENST00000639589
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-214
ENSP00000492644
ENST00000639958
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-215
ENSP00000492763
ENST00000640055
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-216
ENSP00000491228
ENST00000640132
Q96MT3
[Direct mapping] Prickle-like protein 1
Show all
A0A024R0W7
[Target identity:100%; Query identity:100%] Prickle-like 1 (Drosophila), isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006606 [protein import into nucleus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000691 [negative regulation of cardiac muscle cell myoblast differentiation]
Show all
831 aa
94.3 kDa
No 0
PRICKLE1-218
ENSP00000492483
ENST00000640646
F8W1Q8
[Direct mapping] Prickle-like protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Show all
GO:0008270 [zinc ion binding]
Show all
109 aa
12.6 kDa
No 0
PRICKLE1-219
ENSP00000491473
ENST00000640801
A0A1W2PPC7
[Direct mapping] Prickle-like protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Show all
GO:0008270 [zinc ion binding]
Show all
128 aa
14.6 kDa
No 0

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