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
340011342021PRICKLE1, a Wnt/PCP signaling component, is overexpressed and associated with inferior prognosis in acute myeloid leukemia.12
340011342021PRICKLE1, a Wnt/PCP signaling component, is overexpressed and associated with inferior prognosis in acute myeloid leukemia.12
305649772019Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.2
309717752019ECT2 associated to PRICKLE1 are poor-prognosis markers in triple-negative breast cancer.9
305649772019Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.2
309717752019ECT2 associated to PRICKLE1 are poor-prognosis markers in triple-negative breast cancer.9
303457272018PRICKLE1-related early onset epileptic encephalopathy.6
303457272018PRICKLE1-related early onset epileptic encephalopathy.6
270363982016Planar cell polarity gene expression correlates with tumor cell viability and prognostic outcome in neuroblastoma.15
271847342016PRICKLE1 Contributes to Cancer Cell Dissemination through Its Interaction with mTORC2.42
273781692016Prickle1 promotes focal adhesion disassembly in cooperation with the CLASP-LL5β complex in migrating cells.23
270363982016Planar cell polarity gene expression correlates with tumor cell viability and prognostic outcome in neuroblastoma.15
271847342016PRICKLE1 Contributes to Cancer Cell Dissemination through Its Interaction with mTORC2.42
273781692016Prickle1 promotes focal adhesion disassembly in cooperation with the CLASP-LL5β complex in migrating cells.23
243124982013PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.28

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/meetings/js/case-report-explorer/