PRICKLE3
entrez
4007
canonical
uniprot
O43900
canonical
ensembl
ENSG00000012211
resolver
ensp
ENSP00000388599
resolver
ensp
ENSP00000470248
resolver
enst
ENST00000453382
resolver
genesymbol
PRICKLE3
resolver
genesymbol_syn
LMO6
resolver
hgnc
HGNC:6645
resolver
uniprot
B7Z5U0
resolver
uniprot
B7Z8D2
resolver
uniprot
B7Z8F2
resolver
uniprot
H0Y413
resolver
uniprot
O76007
resolver
uniprot
Q53XR5
resolver
uniprot_entry
B7Z5U0_HUMAN
resolver
uniprot_entry
B7Z8D2_HUMAN
resolver
uniprot_entry
H0Y413_HUMAN
resolver
uniprot_entry
PRIC3_HUMAN
resolver
uniprot_sec
B7Z8F2
resolver
uniprot_sec
O76007
resolver
uniprot_sec
Q53XR5
resolver
amino_acid_sequence
MFARGSRRRRSGRAPPEAEDPDRGQPCNSCREQCPGFLLHGWRKICQHCKCPREEHAVHAVPVDLERIMCRLISDFQRHSISDDDSGCASEEYAWVPPGLKPEQVYQFFSCLPEDKVPYVNSPGEKYRIKQLLHQLPPHDSEAQYCTALEEEEKKELRAFSQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGGDIAVFASRAGLGACWHPQCFVCTTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDEIIFSPECTEAEGRHWHMDHFCCFECEASLGGQRYVMRQSRPHCCACYEARHAEYCDGCGEHIGLDQGQMAYEGQHWHASDRCFCCSRCGRALLGRPFLPRRGLIFCSRACSLGSEPTAPGPSRRSWSAGPVTAPLAASTASFSAVKGASETTTKGTSTELAPATGPEEPSRFLRGAPHRHSMPELGLRSVPEPPPESPGQPNLRPDDSAFGRQSTPRVSFRDPLVSEGGPRRTLSAPPAQRRRPRSPPPRAPSRRRHHHHNHHHHHNRHPSRRRHYQCDAGSGSDSESCSSSPSSSSSESSEDDGFFLGERIPLPPHLCRPMPAQDTAMETFNSPSLSLPRDSRAGMPRQARDKNCIVA
uniprot
proteins
disease_involvement
DISEASE: Leber hereditary optic neuropathy, modifier (LOAM) [MIM:308905]: A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Leber hereditary optic neuropathy is maternally inherited in most case and results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene. {ECO:0000269|PubMed:32516135}. Note=The gene represented in this entry acts as a disease modifier.
uniprot
proteins
function
FUNCTION: Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). Required for proper assembly, stability, and function of mitochondrial membrane ATP synthase (mitochondrial complex V) (PubMed:32516135). {ECO:0000250|UniProtKB:A8WH69, ECO:0000269|PubMed:32516135}.
uniprot
proteins
mass_dalton
68609
uniprot
proteins
protein_family
Prickle / espinas / testin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32516135
uniprot
proteins
pubmed
9344658
uniprot
proteins
sequence_length
615
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A8WH69, ECO:0000269|PubMed:32516135}. Cell membrane {ECO:0000250|UniProtKB:A8WH69}; Peripheral membrane protein {ECO:0000250|UniProtKB:A8WH69}; Cytoplasmic side {ECO:0000250|UniProtKB:A8WH69}. Mitochondrion {ECO:0000269|PubMed:32516135}. Note=Recruited by VANGL2 to anterior cell borders. This polarity is controlled by Wnt proteins (By similarity). WTIP is involved in the recruitment of PRICKLE3 to the basal body (By similarity). {ECO:0000250|UniProtKB:A8WH69}.
uniprot
proteins