Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5518 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Protein phosphatase 2 scaffold subunit Aalpha |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PPP2R1A |
SynonymsGene synonyms aliases
|
MRD36, PP2A-Aalpha, PP2AA, PP2AAALPHA, PR65A |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.41 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs786205227 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs786205228 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant |
rs863225094 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1057519946 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs1057519947 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs1555791268 |
C>T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000086 |
Process |
G2/M transition of mitotic cell cycle |
TAS |
|
GO:0000159 |
Component |
Protein phosphatase type 2A complex |
IBA |
21873635 |
GO:0000159 |
Component |
Protein phosphatase type 2A complex |
IDA |
17055435, 17174897 |
GO:0000159 |
Component |
Protein phosphatase type 2A complex |
TAS |
11007961 |
GO:0000184 |
Process |
Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
TAS |
|
GO:0000188 |
Process |
Inactivation of MAPK activity |
NAS |
11007961 |
GO:0000775 |
Component |
Chromosome, centromeric region |
IDA |
16580887 |
GO:0004722 |
Function |
Protein serine/threonine phosphatase activity |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
8617797, 9847399, 9857076, 11504734, 11591705, 15761952, 16044149, 16580887, 16764867, 17055435, 17245430, 17274953, 17374643, 17529992, 17540176, 17632056, 17974561, 18394995, 18715871, 18782753, 19156129, 19293187, 19915589, 20711181, 21075311, 21460856, 23555304, 25150978, 252417 |
GO:0005634 |
Component |
Nucleus |
IDA |
30611118 |
GO:0005634 |
Component |
Nucleus |
NAS |
11007961 |
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005739 |
Component |
Mitochondrion |
NAS |
11007961 |
GO:0005829 |
Component |
Cytosol |
TAS |
11007961 |
GO:0006275 |
Process |
Regulation of DNA replication |
NAS |
11007961 |
GO:0006355 |
Process |
Regulation of transcription, DNA-templated |
NAS |
11007961 |
GO:0006470 |
Process |
Protein dephosphorylation |
TAS |
11007961 |
GO:0006672 |
Process |
Ceramide metabolic process |
NAS |
11007961 |
GO:0006915 |
Process |
Apoptotic process |
TAS |
11007961 |
GO:0007059 |
Process |
Chromosome segregation |
IDA |
16580887 |
GO:0007084 |
Process |
Mitotic nuclear envelope reassembly |
TAS |
|
GO:0008287 |
Component |
Protein serine/threonine phosphatase complex |
IBA |
21873635 |
GO:0008380 |
Process |
RNA splicing |
NAS |
11007961 |
GO:0010033 |
Process |
Response to organic substance |
NAS |
11007961 |
GO:0010389 |
Process |
Regulation of G2/M transition of mitotic cell cycle |
TAS |
|
GO:0015630 |
Component |
Microtubule cytoskeleton |
NAS |
11007961 |
GO:0016020 |
Component |
Membrane |
NAS |
11007961 |
GO:0016328 |
Component |
Lateral plasma membrane |
IEA |
|
GO:0019888 |
Function |
Protein phosphatase regulator activity |
IBA |
21873635 |
GO:0019888 |
Function |
Protein phosphatase regulator activity |
TAS |
11007961 |
GO:0019932 |
Process |
Second-messenger-mediated signaling |
NAS |
11007961 |
GO:0030111 |
Process |
Regulation of Wnt signaling pathway |
NAS |
11007961 |
GO:0030155 |
Process |
Regulation of cell adhesion |
NAS |
11007961 |
GO:0030308 |
Process |
Negative regulation of cell growth |
NAS |
11007961 |
GO:0030425 |
Component |
Dendrite |
IEA |
|
GO:0040008 |
Process |
Regulation of growth |
NAS |
11360189 |
GO:0042532 |
Process |
Negative regulation of tyrosine phosphorylation of STAT protein |
NAS |
11007961 |
GO:0043666 |
Process |
Regulation of phosphoprotein phosphatase activity |
IEA |
|
GO:0045595 |
Process |
Regulation of cell differentiation |
NAS |
11360189 |
GO:0046982 |
Function |
Protein heterodimerization activity |
IPI |
9847399 |
GO:0065003 |
Process |
Protein-containing complex assembly |
TAS |
9989501 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
23533145 |
GO:0097711 |
Process |
Ciliary basal body-plasma membrane docking |
TAS |
|
GO:1990405 |
Function |
Protein antigen binding |
IPI |
9847399 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P30153 |
Protein name |
Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (Medium tumor antigen-associated 61 kDa protein) (PP2A subunit A isoform PR65-alpha) (PP2A subunit A isoform R1-alpha) |
Protein 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. 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). |
PDB |
1B3U
,
2IE3
,
2IE4
,
2NPP
,
2NYL
,
2NYM
,
2PKG
,
3C5W
,
3DW8
,
3K7V
,
3K7W
,
4I5L
,
4I5N
,
4LAC
,
5W0W
,
6IUR
,
6NTS
,
7CUN
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02985 |
HEAT |
166 → 196 |
HEAT repeat |
Repeat |
PF02985 |
HEAT |
205 → 235 |
HEAT repeat |
Repeat |
PF02985 |
HEAT |
283 → 313 |
HEAT repeat |
Repeat |
|
Sequence |
MAAADGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTRSELLPFLTDTIY DEDEVLLALAEQLGTFTTLVGGPEYVHCLLPPLESLATVEETVVRDKAVESLRAISHEHS PSDLEAHFVPLVKRLAGGDWFTSRTSACGLFSVCYPRVSSAVKAELRQYFRNLCSDDTPM VRRAAASKLGEFAKVLELDNVKSEIIPMFSNLASDEQDSVRLLAVEACVNIAQLLPQEDL EALVMPTLRQAAEDKSWRVRYMVADKFTELQKAVGPEITKTDLVPAFQNLMKDCEAEVRA AASHKVKEFCENLSADCRENVIMSQILPCIKELVSDANQHVKSALASVIMGLSPILGKDN TIEHLLPLFLAQLKDECPEVRLNIISNLDCVNEVIGIRQLSQSLLPAIVELAEDAKWRVR LAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATSNLKKLVEKFGKEWAHA TIIPKVLAMSGDPNYLHRMTTLFCINVLSEVCGQDITTKHMLPTVLRMAGDPVANVRFNV AKSLQKIGPILDNSTLQSEVKPILEKLTQDQDVDVKYFAQEALTVLSLA
|
|
Sequence length |
589 |
Interactions |
View interactions |