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Protein

Protein phosphatase 1 regulatory subunit 3A

Gene

PPP1R3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity).By similarity

GO - Biological processi

Keywordsi

Biological processCarbohydrate metabolism, Glycogen metabolism

Enzyme and pathway databases

SIGNORiQ16821

Protein family/group databases

CAZyiCBM21 Carbohydrate-Binding Module Family 21

Names & Taxonomyi

Protein namesi
Recommended name:
Protein phosphatase 1 regulatory subunit 3A
Alternative name(s):
Protein phosphatase 1 glycogen-associated regulatory subunit
Protein phosphatase type-1 glycogen targeting subunit
Short name:
RG1
Gene namesi
Name:PPP1R3A
Synonyms:PP1G
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000154415.7
HGNCiHGNC:9291 PPP1R3A
MIMi600917 gene
neXtProtiNX_Q16821

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1078 – 1098HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019699931A → E in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs35449651Ensembl.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi5506
MalaCardsiPPP1R3A
MIMi125853 phenotype
OpenTargetsiENSG00000154415
PharmGKBiPA33651

Polymorphism and mutation databases

BioMutaiPPP1R3A
DMDMi298286906

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000715001 – 1122Protein phosphatase 1 regulatory subunit 3AAdd BLAST1122

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38Phosphoserine; by GSK3By similarity1
Modified residuei42Phosphoserine; by GSK3By similarity1
Modified residuei46Phosphoserine; by PKA and ISPKBy similarity1
Modified residuei49PhosphoserineBy similarity1
Modified residuei56PhosphothreonineBy similarity1
Modified residuei65Phosphoserine; by PKABy similarity1
Modified residuei844PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylation at Ser-46 by ISPK stimulates the dephosphorylation of glycogen synthase and phosphorylase kinase.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ16821
PaxDbiQ16821
PeptideAtlasiQ16821
PRIDEiQ16821
ProteomicsDBi61080
61081 [Q16821-2]

PTM databases

iPTMnetiQ16821
PhosphoSitePlusiQ16821

Expressioni

Tissue specificityi

Skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiENSG00000154415
CleanExiHS_PPP1R3A
ExpressionAtlasiQ16821 baseline and differential
GenevisibleiQ16821 HS

Interactioni

Subunit structurei

Interacts with PPP1CC catalytic subunit of PP1, and associates with glycogen.By similarity

Protein-protein interaction databases

BioGridi111499, 45 interactors
IntActiQ16821, 2 interactors
STRINGi9606.ENSP00000284601

Structurei

3D structure databases

ProteinModelPortaliQ16821
SMRiQ16821
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini122 – 230CBM21PROSITE-ProRule annotationAdd BLAST109

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi62 – 65PP1-binding motif4

Domaini

The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3986 Eukaryota
ENOG4111FT1 LUCA
GeneTreeiENSGT00530000062978
HOVERGENiHBG053657
InParanoidiQ16821
KOiK07189
OMAiLFTCQET
OrthoDBiEOG091G00OC
PhylomeDBiQ16821
TreeFamiTF105537

Family and domain databases

Gene3Di2.60.40.2440, 1 hit
InterProiView protein in InterPro
IPR005036 CBM21_dom
IPR038175 CBM21_dom_sf
PfamiView protein in Pfam
PF03370 CBM_21, 1 hit
PROSITEiView protein in PROSITE
PS51159 CBM21, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16821-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPSEVPSQI SKDNFLEVPN LSDSLCEDEE VTFQPGFSPQ PSRRGSDSSE
60 70 80 90 100
DIYLDTPSSG TRRVSFADSF GFNLVSVKEF DCWELPSAST TFDLGTDIFH
110 120 130 140 150
TEEYVLAPLF DLPSSKEDLM QQLQIQKAIL ESTESLLGST SIKGIIRVLN
160 170 180 190 200
VSFEKLVYVR MSLDDWQTHY DILAEYVPNS CDGETDQFSF KIVLVPPYQK
210 220 230 240 250
DGSKVEFCIR YETSVGTFWS NNNGTNYTFI CQKKEQEPEP VKPWKEVPNR
260 270 280 290 300
QIKGCLKVKS SKEESSVTSE ENNFENPKNT DTYIPTIICS HEDKEDLEAS
310 320 330 340 350
NRNVKDVNRE HDEHNEKELE LMINQHLIRT RSTASRDERN TFSTDPVNFP
360 370 380 390 400
NKAEGLEKKQ IHGEICTDLF QRSLSPSSSA ESSVKGDFYC NEKYSSGDDC
410 420 430 440 450
THQPSEETTS NMGEIKPSLG DTSSDELVQL HTGSKEVLDD NANPAHGNGT
460 470 480 490 500
VQIPCPSSDQ LMAGNLNKKH EGGAKNIEVK DLGCLRRDFH SDTSACLKES
510 520 530 540 550
TEEGSSKEDY YGNGKDDEEQ RIYLGVNEKQ RKNFQTILHD QERKMGNPKI
560 570 580 590 600
SVAGIGASNR DLATLLSEHT AIPTRAITAD VSHSPRTNLS WEEAVLTPEH
610 620 630 640 650
HHLTSEGSAL GGITGQVCSS RTGNVLRNDY LFQVEEKSGG INSEDQDNSP
660 670 680 690 700
QHKQSWNVLE SQGKSRENKT NITEHIKGQT DCEDVWGKRD NTRSLKATTE
710 720 730 740 750
ELFTCQETVC CELSSLADHG ITEKAEAGTA YIIKTTSEST PESMSAREKA
760 770 780 790 800
IIAKLPQETA RSDRPIEVKE TAFDPHEGRN DDSHYTLCQR DTVGVIYDND
810 820 830 840 850
FEKESRLGIC NVRVDEMEKE ETMSMYNPRK THDREKCGTG NITSVEESSW
860 870 880 890 900
VITEYQKATS KLDLQLGMLP TDKTVFSENR DLRQVQELSK KTDSDAIVHS
910 920 930 940 950
AFNSDTNRAP QNSSPFSKHH TEISVSTNEQ AIAVENAVTT MASQPISTKS
960 970 980 990 1000
ENICNSTREI QGIEKHPYPE SKPEEVSRSS GIVTSGSRKE RCIGQIFQTE
1010 1020 1030 1040 1050
EYSVEKSLGP MILINKPLEN MEEARHENEG LVSSGQSLYT SGEKESDSSA
1060 1070 1080 1090 1100
STSLPVEESQ AQGNESLFSK YTNSKIPYFL LFLIFLITVY HYDLMIGLTF
1110 1120
YVLSLSWLSW EEGRQKESVK KK
Length:1,122
Mass (Da):125,767
Last modified:June 15, 2010 - v3
Checksum:iFACB2CEA7C00E75B
GO
Isoform 2 (identifier: Q16821-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-74: GTRRVSFADSFGFNL → ERTRAGACKTMERSS
     75-1122: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:74
Mass (Da):8,187
Checksum:i16A09845C8C8273A
GO

Sequence cautioni

The sequence AAS07492 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02792945G → S. Corresponds to variant dbSNP:rs8192687Ensembl.1
Natural variantiVAR_027930231C → Y. Corresponds to variant dbSNP:rs7801819Ensembl.1
Natural variantiVAR_027931451V → M4 PublicationsCorresponds to variant dbSNP:rs2974942Ensembl.1
Natural variantiVAR_027932476N → K4 PublicationsCorresponds to variant dbSNP:rs2974944Ensembl.1
Natural variantiVAR_036287554G → A in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057128627R → K. Corresponds to variant dbSNP:rs35067467EnsemblClinVar.1
Natural variantiVAR_027933748E → K. Corresponds to variant dbSNP:rs4304271Ensembl.1
Natural variantiVAR_027934882L → H4 PublicationsCorresponds to variant dbSNP:rs2974938Ensembl.1
Natural variantiVAR_019697883R → S1 PublicationCorresponds to variant dbSNP:rs1800000Ensembl.1
Natural variantiVAR_019698905D → Y Common polymorphism; can be associated with insulin resistance. 2 PublicationsCorresponds to variant dbSNP:rs1799999EnsemblClinVar.1
Natural variantiVAR_019699931A → E in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs35449651Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01158560 – 74GTRRV…FGFNL → ERTRAGACKTMERSS in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_01158675 – 1122Missing in isoform 2. 1 PublicationAdd BLAST1048

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF024578, AF024576, AF024577 Genomic DNA Translation: AAB94596.1
AF024579 mRNA Translation: AAB94597.1
AC092465 Genomic DNA Translation: AAS07492.1 Sequence problems.
AC093598 Genomic DNA Translation: AAP22361.1
CH236947 Genomic DNA Translation: EAL24370.1
BC126451 mRNA Translation: AAI26452.1
BC126453 mRNA Translation: AAI26454.1
X78578 mRNA Translation: CAA55316.1
CCDSiCCDS5759.1 [Q16821-1]
PIRiI38127
RefSeqiNP_002702.2, NM_002711.3 [Q16821-1]
UniGeneiHs.458309

Genome annotation databases

EnsembliENST00000284601; ENSP00000284601; ENSG00000154415 [Q16821-1]
ENST00000284602; ENSP00000284602; ENSG00000154415 [Q16821-2]
GeneIDi5506
KEGGihsa:5506
UCSCiuc010ljy.2 human [Q16821-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPPR3A_HUMAN
AccessioniPrimary (citable) accession number: Q16821
Secondary accession number(s): A0AVQ2
, A4D0T6, O43476, Q75LN8, Q7KYM8, Q86UI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: June 15, 2010
Last modified: June 20, 2018
This is version 134 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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