PLAA
entrez
9373
canonical
uniprot
Q9Y263
canonical
ensembl
ENSG00000137055
resolver
ensp
ENSP00000380460
resolver
ensp
ENSP00000568009
resolver
ensp
ENSP00000726536
resolver
ensp
ENSP00000726538
resolver
enst
ENST00000397292
resolver
genesymbol
PLAA
resolver
genesymbol_syn
PLAP
resolver
hgnc
HGNC:9043
resolver
uniprot
Q53EU5
resolver
uniprot
Q5VY33
resolver
uniprot
Q9NUL8
resolver
uniprot
Q9NVE9
resolver
uniprot
Q9UF53
resolver
uniprot
Q9Y5L1
resolver
uniprot_entry
PLAP_HUMAN
resolver
uniprot_sec
Q53EU5
resolver
uniprot_sec
Q5VY33
resolver
uniprot_sec
Q9NUL8
resolver
uniprot_sec
Q9NVE9
resolver
uniprot_sec
Q9UF53
resolver
uniprot_sec
Q9Y5L1
resolver
amino_acid_sequence
MTSGATRYRLSCSLRGHELDVRGLVCCAYPPGAFVSVSRDRTTRLWAPDSPNRSFTEMHCMSGHSNFVSCVCIIPSSDIYPHGLIATGGNDHNICIFSLDSPMPLYILKGHKNTVCSLSSGKFGTLLSGSWDTTAKVWLNDKCMMTLQGHTAAVWAVKILPEQGLMLTGSADKTVKLWKAGRCERTFSGHEDCVRGLAILSETEFLSCANDASIRRWQITGECLEVYYGHTNYIYSISVFPNCRDFVTTAEDRSLRIWKHGECAQTIRLPAQSIWCCCVLDNGDIVVGASDGIIRVFTESEDRTASAEEIKAFEKELSHATIDSKTGDLGDINAEQLPGREHLNEPGTREGQTRLIRDGEKVEAYQWSVSEGRWIKIGDVVGSSGANQQTSGKVLYEGKEFDYVFSIDVNEGGPSYKLPYNTSDDPWLTAYNFLQKNDLNPMFLDQVAKFIIDNTKGQMLGLGNPSFSDPFTGGGRYVPGSSGSSNTLPTADPFTGAGRYVPGSASMGTTMAGVDPFTGNSAYRSAASKTMNIYFPKKEAVTFDQANPTQILGKLKELNGTAPEEKKLTEDDLILLEKILSLICNSSSEKPTVQQLQILWKAINCPEDIVFPALDILRLSIKHPSVNENFCNEKEGAQFSSHLINLLNPKGKPANQLLALRTFCNCFVGQAGQKLMMSQRESLMSHAIELKSGSNKNIHIALATLALNYSVCFHKDHNIEGKAQCLSLISTILEVVQDLEATFRLLVALGTLISDDSNAVQLAKSLGVDSQIKKYSSVSEPAKVSECCRFILNLL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527]: An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound intellectual disability and severely impaired or absent motor function. More variable features include seizures and optic atrophy. {ECO:0000269|PubMed:28007986, ECO:0000269|PubMed:28413018}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986). {ECO:0000250|UniProtKB:P27612, ECO:0000269|PubMed:18291623, ECO:0000269|PubMed:27753622, ECO:0000269|PubMed:28007986}.
uniprot
proteins
mass_dalton
87157
uniprot
proteins
protein_family
WD repeat PLAP family
uniprot
proteins
pubmed
10571045
uniprot
proteins
pubmed
10644453
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18291623
uniprot
proteins
pubmed
19423704
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19887378
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27753622
uniprot
proteins
pubmed
28007986
uniprot
proteins
pubmed
28413018
uniprot
proteins
pubmed
9931468
uniprot
proteins
sequence_length
795
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28007986}. Cytoplasm {ECO:0000269|PubMed:27753622, ECO:0000269|PubMed:28007986}. Synapse {ECO:0000250|UniProtKB:P27612}. Note=Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains. {ECO:0000269|PubMed:27753622}.
uniprot
proteins