PPFIA3
entrez
8541
canonical
uniprot
O75145
canonical
ensembl
ENSG00000177380
resolver
ensp
ENSP00000335614
resolver
ensp
ENSP00000473622
resolver
genesymbol
PPFIA3
resolver
genesymbol_syn
KIAA0654
resolver
hgnc
HGNC:9247
resolver
uniprot
A8K142
resolver
uniprot
Q3MJA0
resolver
uniprot
Q9H8B5
resolver
uniprot
Q9UEW4
resolver
uniprot_entry
LIPA3_HUMAN
resolver
uniprot_sec
A8K142
resolver
uniprot_sec
Q3MJA0
resolver
uniprot_sec
Q9H8B5
resolver
uniprot_sec
Q9UEW4
resolver
amino_acid_sequence
MMCEVMPTISEDGRRGSALGPDEAGGELERLMVTMLTERERLLETLREAQDGLATAQLRLRELGHEKDSLQRQLSIALPQEFAALTKELNLCREQLLEREEEIAELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPGGVSSEVEVLKALKSLFEHHKALDEKVRERLRMALERVAVLEEELELSNQETLNLREQLSRRRSGLEEPGKDGDGQTLANGLGPGGDSNRRTAELEEALERQRAEVCQLRERLAVLCRQMSQLEEELGTAHRELGKAEEANSKLQRDLKEALAQREDMEERITTLEKRYLSAQREATSLHDANDKLENELASKESLYRQSEEKSRQLAEWLDDAKQKLQQTLQKAETLPEIEAQLAQRVAALNKAEERHGNFEERLRQLEAQLEEKNQELQRARQREKMNDDHNKRLSETVDKLLSESNERLQLHLKERMGALEEKNSLSEEIANMKKLQDELLLNKEQLLAEMERMQMEIDQLRGRPPSSYSRSLPGSALELRYSQAPTLPSGAHLDPYVAGSGRAGKRGRWSGVKEEPSKDWERSAPAGSIPPPFPGELDGSDEEEAEGMFGAELLSPSGQADVQTLAIMLQEQLEAINKEIKLIQEEKETTEQRAEELESRVSSSGLDSLGRYRSSCSLPPSLTTSTLASPSPPSSGHSTPRLAPPSPAREGTDKANHVPKEEAGAPRGEGPAIPGDTPPPTPRSARLERMTQALALQAGSLEDGGPPRGSEGTPDSLHKAPKKKSIKSSIGRLFGKKEKGRMGPPGRDSSSLAGTPSDETLATDPLGLAKLTGPGDKDRRNKRKHELLEEACRQGLPFAAWDGPTVVSWLELWVGMPAWYVAACRANVKSGAIMANLSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPASSRTSTGNVWMTHEEMESLTATTKPETKEISWEQILAYGDMNHEWVGNDWLPSLGLPQYRSYFMESLVDARMLDHLNKKELRGQLKMVDSFHRVSLHYGIMCLKRLNYDRKDLERRREESQTQIRDVMVWSNERVMGWVSGLGLKEFATNLTESGVHGALLALDETFDYSDLALLLQIPTQNAQARQLLEKEFSNLISLGTDRRLDEDSAKSFSRSPSWRKMFREKDLRGVTPDSAEMLPPNFRSAAAGALGSPGLPLRKLQPEGQTSGSSRADGVSVRTYSC
uniprot
proteins
disease_involvement
DISEASE: Paul-Chao neurodevelopmental syndrome (NEDPACH) [MIM:621122]: An autosomal dominant disorder characterized by global developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, behavioral abnormalities including autistic features, and epilepsy with reduced penetrance. {ECO:0000269|PubMed:38181735}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. {ECO:0000269|PubMed:9624153}.
uniprot
proteins
mass_dalton
133496
uniprot
proteins
protein_family
Liprin family
uniprot
proteins
protein_family
Liprin-alpha subfamily
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23124857
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
38181735
uniprot
proteins
pubmed
38508193
uniprot
proteins
pubmed
38723631
uniprot
proteins
pubmed
9624153
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q91Z79}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:23124857}. Note=Also detected in epididymosome. {ECO:0000250|UniProtKB:Q91Z79}.
uniprot
proteins