PRICKLE1 (prickle planar cell polarity protein 1)

2007-02-01  

Identity

HGNC
PRICKLE1
LOCATION
12q12
LOCUSID
144165
ALIAS
EPM1B,RILP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 144165
MIM: 608500
HGNC: 17019
Ensembl: ENSG00000139174

Variants:

dbSNP: 144165
ClinVar: 144165
TCGA: ENSG00000139174
COSMIC: PRICKLE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139174ENST00000345127Q96MT3
ENSG00000139174ENST00000345127A0A024R0W7
ENSG00000139174ENST00000445766Q96MT3
ENSG00000139174ENST00000445766A0A024R0W7
ENSG00000139174ENST00000455697Q96MT3
ENSG00000139174ENST00000455697A0A024R0W7
ENSG00000139174ENST00000547113F8W1Q8
ENSG00000139174ENST00000548696Q96MT3
ENSG00000139174ENST00000548696A0A024R0W7
ENSG00000139174ENST00000551050F8W1J1
ENSG00000139174ENST00000552108F8VUG8
ENSG00000139174ENST00000552240Q96MT3
ENSG00000139174ENST00000552240A0A024R0W7
ENSG00000139174ENST00000639566Q96MT3
ENSG00000139174ENST00000639566A0A024R0W7
ENSG00000139174ENST00000639589Q96MT3
ENSG00000139174ENST00000639589A0A024R0W7
ENSG00000139174ENST00000639958Q96MT3
ENSG00000139174ENST00000639958A0A024R0W7
ENSG00000139174ENST00000640055Q96MT3
ENSG00000139174ENST00000640055A0A024R0W7
ENSG00000139174ENST00000640132Q96MT3
ENSG00000139174ENST00000640132A0A024R0W7
ENSG00000139174ENST00000640646F8W1Q8
ENSG00000139174ENST00000640801A0A1W2PPC7

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
PCP/CE pathwayREACTOMER-HSA-4086400
Asymmetric localization of PCP proteinsREACTOMER-HSA-4608870

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
129416932003Prickle and Strabismus form a functional complex to generate a correct axis during planar cell polarity signaling.96
189767272008A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.82
212769472011Mutations in prickle orthologs cause seizures in flies, mice, and humans.57
192521332009Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.51
170301912006Prickle-1 negatively regulates Wnt/beta-catenin pathway by promoting Dishevelled ubiquitination/degradation in liver cancer.46
219017912011Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.28
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
146455152003REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.21
243124982013PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.21
125258872003Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.17

Citation

Dessen P

PRICKLE1 (prickle planar cell polarity protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46033/prickle1-(prickle-planar-cell-polarity-protein-1)