PPP2R1A
entrez
5518
canonical
uniprot
P30153
canonical
ensembl
ENSG00000105568
resolver
ensp
ENSP00000324804
resolver
ensp
ENSP00000470504
resolver
ensp
ENSP00000515286
resolver
ensp
ENSP00000515287
resolver
ensp
ENSP00000515293
resolver
enst
ENST00000322088
resolver
enst
ENST00000462990
resolver
enst
ENST00000703395
resolver
enst
ENST00000703397
resolver
enst
ENST00000703423
resolver
genesymbol
PPP2R1A
resolver
hgnc
HGNC:9302
resolver
uniprot
A8K7B7
resolver
uniprot
B3KQV6
resolver
uniprot
M0QZE7
resolver
uniprot
Q13773
resolver
uniprot
Q6ICQ3
resolver
uniprot
Q96DH3
resolver
uniprot_entry
2AAA_HUMAN
resolver
uniprot_entry
A8K7B7_HUMAN
resolver
uniprot_entry
B3KQV6_HUMAN
resolver
uniprot_entry
M0QZE7_HUMAN
resolver
uniprot_sec
Q13773
resolver
uniprot_sec
Q6ICQ3
resolver
uniprot_sec
Q96DH3
resolver
amino_acid_sequence
MAAADGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTRSELLPFLTDTIYDEDEVLLALAEQLGTFTTLVGGPEYVHCLLPPLESLATVEETVVRDKAVESLRAISHEHSPSDLEAHFVPLVKRLAGGDWFTSRTSACGLFSVCYPRVSSAVKAELRQYFRNLCSDDTPMVRRAAASKLGEFAKVLELDNVKSEIIPMFSNLASDEQDSVRLLAVEACVNIAQLLPQEDLEALVMPTLRQAAEDKSWRVRYMVADKFTELQKAVGPEITKTDLVPAFQNLMKDCEAEVRAAASHKVKEFCENLSADCRENVIMSQILPCIKELVSDANQHVKSALASVIMGLSPILGKDNTIEHLLPLFLAQLKDECPEVRLNIISNLDCVNEVIGIRQLSQSLLPAIVELAEDAKWRVRLAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATSNLKKLVEKFGKEWAHATIIPKVLAMSGDPNYLHRMTTLFCINVLSEVCGQDITTKHMLPTVLRMAGDPVANVRFNVAKSLQKIGPILDNSTLQSEVKPILEKLTQDQDVDVKYFAQEALTVLSLA
uniprot
proteins
disease_involvement
DISEASE: Houge-Janssens syndrome 2 (HJS2) [MIM:616362]: An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Some patients may develop seizures. {ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:26168268, ECO:0000269|PubMed:37761890}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit (PubMed:15525651, PubMed:16580887, PubMed:33243860, PubMed:33633399, PubMed:34004147, PubMed:8694763). Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887). Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability (By similarity). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753, PubMed:33633399). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling (PubMed:18782753, PubMed:33633399). Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753, PubMed:33633399). Key mediator of a quality checkpoint during transcription elongation as part of the Integrator-PP2A (INTAC) complex (PubMed:33243860, PubMed:34004147). The INTAC complex drives premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: within the INTAC complex, acts as a scaffolding subunit for PPP2CA, which catalyzes dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, thereby preventing transcriptional elongation (PubMed:33243860, PubMed:34004147). Regulates the recruitment of the SKA complex to kinetochores (PubMed:28982702). {ECO:0000250|UniProtKB:Q76MZ3, ECO:0000269|PubMed:15525651, ECO:0000269|PubMed:16580887, ECO:0000269|PubMed:18782753, ECO:0000269|PubMed:28982702, ECO:0000269|PubMed:33243860, ECO:0000269|PubMed:33633399, ECO:0000269|PubMed:34004147, ECO:0000269|PubMed:8694763}.
uniprot
proteins
mass_dalton
65309
uniprot
proteins
protein_family
Phosphatase 2A regulatory subunit A family
uniprot
proteins
pubmed
12670497
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15525651
uniprot
proteins
pubmed
16580887
uniprot
proteins
pubmed
17245430
uniprot
proteins
pubmed
17374643
uniprot
proteins
pubmed
17974561
uniprot
proteins
pubmed
18353419
uniprot
proteins
pubmed
18394995
uniprot
proteins
pubmed
18782753
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20485545
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2159327
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25533962
uniprot
proteins
pubmed
2554323
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26168268
uniprot
proteins
pubmed
27588481
uniprot
proteins
pubmed
28167675
uniprot
proteins
pubmed
28174209
uniprot
proteins
pubmed
28982702
uniprot
proteins
pubmed
30611118
uniprot
proteins
pubmed
33243860
uniprot
proteins
pubmed
33633399
uniprot
proteins
pubmed
34004147
uniprot
proteins
pubmed
34762484
uniprot
proteins
pubmed
36869814
uniprot
proteins
pubmed
37761890
uniprot
proteins
pubmed
38123684
uniprot
proteins
pubmed
38570683
uniprot
proteins
pubmed
8254721
uniprot
proteins
pubmed
8694763
uniprot
proteins
pubmed
9989501
uniprot
proteins
sequence_length
589
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q32PI5}. Nucleus {ECO:0000269|PubMed:30611118, ECO:0000269|PubMed:33243860, ECO:0000269|PubMed:34004147}. Chromosome {ECO:0000269|PubMed:33243860, ECO:0000269|PubMed:34004147}. Chromosome, centromere {ECO:0000269|PubMed:16580887}. Lateral cell membrane {ECO:0000269|PubMed:15525651}. Cell projection, dendrite {ECO:0000269|PubMed:15525651}. Note=Centromeric localization requires the presence of BUB1 (PubMed:16580887). Recruited to chromatin and transcription pause-release checkpoint via its association with the Integrator complex (PubMed:34004147, PubMed:33243860). {ECO:0000269|PubMed:16580887, ECO:0000269|PubMed:33243860, ECO:0000269|PubMed:34004147}.
uniprot
proteins