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Q16821 (PPR3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PPP1R3A
Synonyms:PP1G
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1122 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Membrane; Single-pass membrane protein By similarity.

Tissue specificity

Skeletal muscle and heart. Ref.1

Domain

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

Post-translational modification

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

Involvement in disease

Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 1 CBM21 (carbohydrate binding type-21) domain.

Sequence caution

The sequence AAS07492.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processCarbohydrate metabolism
Glycogen metabolism
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDiabetes mellitus
Disease mutation
   DomainTransmembrane
Transmembrane helix
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processglycogen metabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q16821-1)

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.
Isoform 2 (identifier: Q16821-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11221122Protein phosphatase 1 regulatory subunit 3A
PRO_0000071500

Regions

Transmembrane1078 – 109821Helical; Potential
Domain122 – 230109CBM21
Motif62 – 654PP1-binding motif

Amino acid modifications

Modified residue381Phosphoserine; by GSK3 By similarity
Modified residue421Phosphoserine; by GSK3 By similarity
Modified residue461Phosphoserine; by PKA and ISPK By similarity
Modified residue651Phosphoserine; by PKA By similarity

Natural variations

Alternative sequence60 – 7415GTRRV…FGFNL → ERTRAGACKTMERSS in isoform 2.
VSP_011585
Alternative sequence75 – 11221048Missing in isoform 2.
VSP_011586
Natural variant451G → S.
Corresponds to variant rs8192687 [ dbSNP | Ensembl ].
VAR_027929
Natural variant2311C → Y.
Corresponds to variant rs7801819 [ dbSNP | Ensembl ].
VAR_027930
Natural variant4511V → M. Ref.1 Ref.3 Ref.4 Ref.5
Corresponds to variant rs2974942 [ dbSNP | Ensembl ].
VAR_027931
Natural variant4761N → K. Ref.1 Ref.3 Ref.4 Ref.5
Corresponds to variant rs2974944 [ dbSNP | Ensembl ].
VAR_027932
Natural variant5541G → A in a breast cancer sample; somatic mutation. Ref.7
VAR_036287
Natural variant6271R → K.
Corresponds to variant rs35067467 [ dbSNP | Ensembl ].
VAR_057128
Natural variant7481E → K.
Corresponds to variant rs4304271 [ dbSNP | Ensembl ].
VAR_027933
Natural variant8821L → H. Ref.1 Ref.3 Ref.4 Ref.5
Corresponds to variant rs2974938 [ dbSNP | Ensembl ].
VAR_027934
Natural variant8831R → S. Ref.1
Corresponds to variant rs1800000 [ dbSNP | Ensembl ].
VAR_019697
Natural variant9051D → Y Common polymorphism; can be associated with insulin resistance. Ref.1 Ref.6
Corresponds to variant rs1799999 [ dbSNP | Ensembl ].
VAR_019698
Natural variant9311A → E in NIDDM. Ref.5
Corresponds to variant rs35449651 [ dbSNP | Ensembl ].
VAR_019699

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 15, 2010. Version 3.
Checksum: FACB2CEA7C00E75B

FASTA1,122125,767
        10         20         30         40         50         60 
MEPSEVPSQI SKDNFLEVPN LSDSLCEDEE VTFQPGFSPQ PSRRGSDSSE DIYLDTPSSG 

        70         80         90        100        110        120 
TRRVSFADSF GFNLVSVKEF DCWELPSAST TFDLGTDIFH TEEYVLAPLF DLPSSKEDLM 

       130        140        150        160        170        180 
QQLQIQKAIL ESTESLLGST SIKGIIRVLN VSFEKLVYVR MSLDDWQTHY DILAEYVPNS 

       190        200        210        220        230        240 
CDGETDQFSF KIVLVPPYQK DGSKVEFCIR YETSVGTFWS NNNGTNYTFI CQKKEQEPEP 

       250        260        270        280        290        300 
VKPWKEVPNR QIKGCLKVKS SKEESSVTSE ENNFENPKNT DTYIPTIICS HEDKEDLEAS 

       310        320        330        340        350        360 
NRNVKDVNRE HDEHNEKELE LMINQHLIRT RSTASRDERN TFSTDPVNFP NKAEGLEKKQ 

       370        380        390        400        410        420 
IHGEICTDLF QRSLSPSSSA ESSVKGDFYC NEKYSSGDDC THQPSEETTS NMGEIKPSLG 

       430        440        450        460        470        480 
DTSSDELVQL HTGSKEVLDD NANPAHGNGT VQIPCPSSDQ LMAGNLNKKH EGGAKNIEVK 

       490        500        510        520        530        540 
DLGCLRRDFH SDTSACLKES TEEGSSKEDY YGNGKDDEEQ RIYLGVNEKQ RKNFQTILHD 

       550        560        570        580        590        600 
QERKMGNPKI SVAGIGASNR DLATLLSEHT AIPTRAITAD VSHSPRTNLS WEEAVLTPEH 

       610        620        630        640        650        660 
HHLTSEGSAL GGITGQVCSS RTGNVLRNDY LFQVEEKSGG INSEDQDNSP QHKQSWNVLE 

       670        680        690        700        710        720 
SQGKSRENKT NITEHIKGQT DCEDVWGKRD NTRSLKATTE ELFTCQETVC CELSSLADHG 

       730        740        750        760        770        780 
ITEKAEAGTA YIIKTTSEST PESMSAREKA IIAKLPQETA RSDRPIEVKE TAFDPHEGRN 

       790        800        810        820        830        840 
DDSHYTLCQR DTVGVIYDND FEKESRLGIC NVRVDEMEKE ETMSMYNPRK THDREKCGTG 

       850        860        870        880        890        900 
NITSVEESSW VITEYQKATS KLDLQLGMLP TDKTVFSENR DLRQVQELSK KTDSDAIVHS 

       910        920        930        940        950        960 
AFNSDTNRAP QNSSPFSKHH TEISVSTNEQ AIAVENAVTT MASQPISTKS ENICNSTREI 

       970        980        990       1000       1010       1020 
QGIEKHPYPE SKPEEVSRSS GIVTSGSRKE RCIGQIFQTE EYSVEKSLGP MILINKPLEN 

      1030       1040       1050       1060       1070       1080 
MEEARHENEG LVSSGQSLYT SGEKESDSSA STSLPVEESQ AQGNESLFSK YTNSKIPYFL 

      1090       1100       1110       1120 
LFLIFLITVY HYDLMIGLTF YVLSLSWLSW EEGRQKESVK KK 

« Hide

Isoform 2 [UniParc].

Checksum: 16A09845C8C8273A
Show »

FASTA748,187

References

« Hide 'large scale' references
[1]"A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes."
Xia J., Scherer S.W., Cohen P.T.W., Majer M., Xi T., Norman R.A., Knowler W.C., Bogardus C., Prochazka M.
Diabetes 47:1519-1524(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS MET-451; LYS-476; HIS-882; SER-883 AND TYR-905.
Tissue: Skeletal muscle.
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS MET-451; LYS-476 AND HIS-882.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS MET-451; LYS-476 AND HIS-882.
[5]"Sequence of the human glycogen-associated regulatory subunit of type I protein phosphatase and analysis of its coding region and mRNA level in muscle from patients with non-insulin-dependent diabetes."
Chen Y.H., Hansen L., Chen M.X., Bjorbaek C., Vestergaard H., Hansen T., Cohen P.T.W., Pederson O.
Diabetes 43:1234-1241(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-1122 (ISOFORM 1), VARIANTS MET-451; LYS-476 AND HIS-882, VARIANT NIDDM GLU-931.
Tissue: Skeletal muscle.
[6]"A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin."
Hansen L., Hansen T., Vestergaard H., Bjorbaek C., Echwald S.M., Clausen J.O., Chen Y.H., Chen M.X., Cohen P.T.W., Pedersen O.
Hum. Mol. Genet. 4:1313-1320(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT TYR-905.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-554.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5759.1. [Q16821-1]
PIRI38127.
RefSeqNP_002702.2. NM_002711.3. [Q16821-1]
UniGeneHs.458309.

3D structure databases

ProteinModelPortalQ16821.
SMRQ16821. Positions 110-230.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111499. 2 interactions.
IntActQ16821. 1 interaction.
STRING9606.ENSP00000284601.

Protein family/group databases

CAZyCBM21. Carbohydrate-Binding Module Family 21.

PTM databases

PhosphoSiteQ16821.

Polymorphism databases

DMDM298286906.

Proteomic databases

PaxDbQ16821.
PRIDEQ16821.

Protocols and materials databases

DNASU5506.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284601; ENSP00000284601; ENSG00000154415. [Q16821-1]
ENST00000284602; ENSP00000284602; ENSG00000154415. [Q16821-2]
GeneID5506.
KEGGhsa:5506.
UCSCuc010ljy.1. human. [Q16821-1]

Organism-specific databases

CTD5506.
GeneCardsGC07M113516.
H-InvDBHIX0033522.
HGNCHGNC:9291. PPP1R3A.
MIM125853. phenotype.
600917. gene.
neXtProtNX_Q16821.
PharmGKBPA33651.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG288354.
HOVERGENHBG053657.
InParanoidQ16821.
KOK07189.
OMAAFDPHEG.
OrthoDBEOG769ZKR.
PhylomeDBQ16821.
TreeFamTF105537.

Gene expression databases

BgeeQ16821.
CleanExHS_PPP1R3A.
GenevestigatorQ16821.

Family and domain databases

InterProIPR005036. CBM_21.
[Graphical view]
PfamPF03370. CBM_21. 1 hit.
[Graphical view]
PROSITEPS51159. CBM21. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPPP1R3A.
GenomeRNAi5506.
NextBio21300.
PROQ16821.
SOURCESearch...

Entry information

Entry namePPR3A_HUMAN
AccessionPrimary (citable) accession number: Q16821
Secondary accession number(s): A0AVQ2 expand/collapse secondary AC list , A4D0T6, O43476, Q75LN8, Q7KYM8, Q86UI6
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: June 15, 2010
Last modified: July 9, 2014
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM