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Q16821

- PPR3A_HUMAN

UniProt

Q16821 - PPR3A_HUMAN

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Protein
Protein phosphatase 1 regulatory subunit 3A
Gene
PPP1R3A, PP1G
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

GO - Biological processi

  1. glycogen metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Carbohydrate metabolism, Glycogen metabolism

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:9291. PPP1R3A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1078 – 109821Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti931 – 9311A → E in NIDDM. 1 Publication
Corresponds to variant rs35449651 [ dbSNP | Ensembl ].
VAR_019699

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

MIMi125853. phenotype.
PharmGKBiPA33651.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11221122Protein phosphatase 1 regulatory subunit 3A
PRO_0000071500Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei38 – 381Phosphoserine; by GSK3 By similarity
Modified residuei42 – 421Phosphoserine; by GSK3 By similarity
Modified residuei46 – 461Phosphoserine; by PKA and ISPK By similarity
Modified residuei65 – 651Phosphoserine; by PKA By similarity

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

PaxDbiQ16821.
PRIDEiQ16821.

PTM databases

PhosphoSiteiQ16821.

Expressioni

Tissue specificityi

Skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiQ16821.
CleanExiHS_PPP1R3A.
GenevestigatoriQ16821.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi111499. 2 interactions.
IntActiQ16821. 1 interaction.
STRINGi9606.ENSP00000284601.

Structurei

3D structure databases

ProteinModelPortaliQ16821.
SMRiQ16821. Positions 110-230.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini122 – 230109CBM21
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi62 – 654PP1-binding motif

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG288354.
HOVERGENiHBG053657.
InParanoidiQ16821.
KOiK07189.
OMAiAFDPHEG.
OrthoDBiEOG769ZKR.
PhylomeDBiQ16821.
TreeFamiTF105537.

Family and domain databases

InterProiIPR005036. CBM_21.
[Graphical view]
PfamiPF03370. CBM_21. 1 hit.
[Graphical view]
PROSITEiPS51159. CBM21. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MEPSEVPSQI SKDNFLEVPN LSDSLCEDEE VTFQPGFSPQ PSRRGSDSSE     50
DIYLDTPSSG TRRVSFADSF GFNLVSVKEF DCWELPSAST TFDLGTDIFH 100
TEEYVLAPLF DLPSSKEDLM QQLQIQKAIL ESTESLLGST SIKGIIRVLN 150
VSFEKLVYVR MSLDDWQTHY DILAEYVPNS CDGETDQFSF KIVLVPPYQK 200
DGSKVEFCIR YETSVGTFWS NNNGTNYTFI CQKKEQEPEP VKPWKEVPNR 250
QIKGCLKVKS SKEESSVTSE ENNFENPKNT DTYIPTIICS HEDKEDLEAS 300
NRNVKDVNRE HDEHNEKELE LMINQHLIRT RSTASRDERN TFSTDPVNFP 350
NKAEGLEKKQ IHGEICTDLF QRSLSPSSSA ESSVKGDFYC NEKYSSGDDC 400
THQPSEETTS NMGEIKPSLG DTSSDELVQL HTGSKEVLDD NANPAHGNGT 450
VQIPCPSSDQ LMAGNLNKKH EGGAKNIEVK DLGCLRRDFH SDTSACLKES 500
TEEGSSKEDY YGNGKDDEEQ RIYLGVNEKQ RKNFQTILHD QERKMGNPKI 550
SVAGIGASNR DLATLLSEHT AIPTRAITAD VSHSPRTNLS WEEAVLTPEH 600
HHLTSEGSAL GGITGQVCSS RTGNVLRNDY LFQVEEKSGG INSEDQDNSP 650
QHKQSWNVLE SQGKSRENKT NITEHIKGQT DCEDVWGKRD NTRSLKATTE 700
ELFTCQETVC CELSSLADHG ITEKAEAGTA YIIKTTSEST PESMSAREKA 750
IIAKLPQETA RSDRPIEVKE TAFDPHEGRN DDSHYTLCQR DTVGVIYDND 800
FEKESRLGIC NVRVDEMEKE ETMSMYNPRK THDREKCGTG NITSVEESSW 850
VITEYQKATS KLDLQLGMLP TDKTVFSENR DLRQVQELSK KTDSDAIVHS 900
AFNSDTNRAP QNSSPFSKHH TEISVSTNEQ AIAVENAVTT MASQPISTKS 950
ENICNSTREI QGIEKHPYPE SKPEEVSRSS GIVTSGSRKE RCIGQIFQTE 1000
EYSVEKSLGP MILINKPLEN MEEARHENEG LVSSGQSLYT SGEKESDSSA 1050
STSLPVEESQ AQGNESLFSK YTNSKIPYFL LFLIFLITVY HYDLMIGLTF 1100
YVLSLSWLSW EEGRQKESVK KK 1122
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 AAS07492.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451G → S.
Corresponds to variant rs8192687 [ dbSNP | Ensembl ].
VAR_027929
Natural varianti231 – 2311C → Y.
Corresponds to variant rs7801819 [ dbSNP | Ensembl ].
VAR_027930
Natural varianti451 – 4511V → M.4 Publications
Corresponds to variant rs2974942 [ dbSNP | Ensembl ].
VAR_027931
Natural varianti476 – 4761N → K.4 Publications
Corresponds to variant rs2974944 [ dbSNP | Ensembl ].
VAR_027932
Natural varianti554 – 5541G → A in a breast cancer sample; somatic mutation. 1 Publication
VAR_036287
Natural varianti627 – 6271R → K.
Corresponds to variant rs35067467 [ dbSNP | Ensembl ].
VAR_057128
Natural varianti748 – 7481E → K.
Corresponds to variant rs4304271 [ dbSNP | Ensembl ].
VAR_027933
Natural varianti882 – 8821L → H.4 Publications
Corresponds to variant rs2974938 [ dbSNP | Ensembl ].
VAR_027934
Natural varianti883 – 8831R → S.1 Publication
Corresponds to variant rs1800000 [ dbSNP | Ensembl ].
VAR_019697
Natural varianti905 – 9051D → Y Common polymorphism; can be associated with insulin resistance. 2 Publications
Corresponds to variant rs1799999 [ dbSNP | Ensembl ].
VAR_019698
Natural varianti931 – 9311A → E in NIDDM. 1 Publication
Corresponds to variant rs35449651 [ dbSNP | Ensembl ].
VAR_019699

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei60 – 7415GTRRV…FGFNL → ERTRAGACKTMERSS in isoform 2.
VSP_011585Add
BLAST
Alternative sequencei75 – 11221048Missing in isoform 2.
VSP_011586Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human. [Q16821-1]

Polymorphism databases

DMDMi298286906.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5759.1. [Q16821-1 ]
PIRi I38127.
RefSeqi NP_002702.2. NM_002711.3. [Q16821-1 ]
UniGenei Hs.458309.

3D structure databases

ProteinModelPortali Q16821.
SMRi Q16821. Positions 110-230.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111499. 2 interactions.
IntActi Q16821. 1 interaction.
STRINGi 9606.ENSP00000284601.

Protein family/group databases

CAZyi CBM21. Carbohydrate-Binding Module Family 21.

PTM databases

PhosphoSitei Q16821.

Polymorphism databases

DMDMi 298286906.

Proteomic databases

PaxDbi Q16821.
PRIDEi Q16821.

Protocols and materials databases

DNASUi 5506.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284601 ; ENSP00000284601 ; ENSG00000154415 . [Q16821-1 ]
ENST00000284602 ; ENSP00000284602 ; ENSG00000154415 . [Q16821-2 ]
GeneIDi 5506.
KEGGi hsa:5506.
UCSCi uc010ljy.1. human. [Q16821-1 ]

Organism-specific databases

CTDi 5506.
GeneCardsi GC07M113516.
H-InvDB HIX0033522.
HGNCi HGNC:9291. PPP1R3A.
MIMi 125853. phenotype.
600917. gene.
neXtProti NX_Q16821.
PharmGKBi PA33651.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG288354.
HOVERGENi HBG053657.
InParanoidi Q16821.
KOi K07189.
OMAi AFDPHEG.
OrthoDBi EOG769ZKR.
PhylomeDBi Q16821.
TreeFami TF105537.

Miscellaneous databases

GeneWikii PPP1R3A.
GenomeRNAii 5506.
NextBioi 21300.
PROi Q16821.
SOURCEi Search...

Gene expression databases

Bgeei Q16821.
CleanExi HS_PPP1R3A.
Genevestigatori Q16821.

Family and domain databases

InterProi IPR005036. CBM_21.
[Graphical view ]
Pfami PF03370. CBM_21. 1 hit.
[Graphical view ]
PROSITEi PS51159. CBM21. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-554.

Entry informationi

Entry nameiPPR3A_HUMAN
AccessioniPrimary (citable) accession number: Q16821
Secondary accession number(s): A0AVQ2
, A4D0T6, O43476, Q75LN8, Q7KYM8, Q86UI6
Entry historyi
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 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

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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