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Q9UQK1 (PPR3C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. 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·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein phosphatase 1 regulatory subunit 3C
Alternative name(s):
Protein phosphatase 1 regulatory subunit 5
Short name=PP1 subunit R5
Protein targeting to glycogen
Short name=PTG
Gene names
Name:PPP1R3C
Synonyms:PPP1R5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length317 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types. Ref.1 UniProtKB Q7TMB3

Subunit structure

Interacts with PPP1CC catalytic subunit of PP1 and associates with glycogen. Forms complexes with glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity. Also interacts with EPM2A/laforin. Ref.1 Ref.8 Ref.9 UniProtKB Q7TMB3

Domain

The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C-terminal region is required for binding to glycogen phosphorylase, glycogen synthase and phosphorylase kinase By similarity. UniProtKB Q7TMB3

Post-translational modification

Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner. Ref.9

Sequence similarities

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

Sequence caution

The sequence AAD33215.1 differs from that shown. Reason: Erroneous gene model prediction.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

EPM2AO952785EBI-2506727,EBI-2506661

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 317317Protein phosphatase 1 regulatory subunit 3C
PRO_0000285927

Regions

Domain149 – 257109CBM21
Region141 – 263123Interaction with EPM2A Ref.8
Motif84 – 874PP1-binding motif

Natural variations

Natural variant1091A → S.
Corresponds to variant rs7089948 [ dbSNP | Ensembl ].
VAR_059775
Natural variant2491N → S Found in a patient with progressive myoclonic epilepsy type 2 also carrying two mutations in EPM2B. Ref.10
VAR_067339

Experimental info

Mutagenesis851V → A: No effect on interaction with EPM2A; when associated with A-87. Ref.8
Mutagenesis871F → A: No effect on interaction with EPM2A; when associated with A-85. Ref.8
Mutagenesis2471D → A: No interaction with EPM2A; when associated with A-250. Ref.8
Mutagenesis2501D → A: No interaction with EPM2A; when associated with A-247. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Q9UQK1 [UniParc].

Last modified May 1, 2007. Version 2.
Checksum: FBFD6DE015F9AB2D

FASTA31736,445
        10         20         30         40         50         60 
MSCTRMIQVL DPRPLTSSVM PVDVAMRLCL AHSPPVKSFL GPYDEFQRRH FVNKLKPLKS 

        70         80         90        100        110        120 
CLNIKHKAKS QNDWKCSHNQ AKKRVVFADS KGLSLTAIHV FSDLPEEPAW DLQFDLLDLN 

       130        140        150        160        170        180 
DISSALKHHE EKNLILDFPQ PSTDYLSFRS HFQKNFVCLE NCSLQERTVT GTVKVKNVSF 

       190        200        210        220        230        240 
EKKVQIRITF DSWKNYTDVD CVYMKNVYGG TDSDTFSFAI DLPPVIPTEQ KIEFCISYHA 

       250        260        270        280        290        300 
NGQVFWDNND GQNYRIVHVQ WKPDGVQTQM APQDCAFHQT SPKTELESTI FGSPRLASGL 

       310 
FPEWQSWGRM ENLASYR 

« Hide

References

« Hide 'large scale' references
[1]"Amino acid sequence of a novel protein phosphatase 1 binding protein (R5) which is related to the liver- and muscle-specific glycogen binding subunits of protein phosphatase 1."
Doherty M.J., Young P.R., Cohen P.T.W.
FEBS Lett. 399:339-343(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH PPP1CC.
Tissue: Gall bladder.
[2]"Protein targeting to glycogen/PPP1R5: screening of coding and flanking genomic regions for polymorphisms and association analysis with insulin action in Pima Indians."
Permana P.A., Luczy-Bachman G., Bogardus C.
Biochem. Biophys. Res. Commun. 258:184-186(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Retina.
[5]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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].
Tissue: Skeletal muscle.
[8]"Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation."
Fernandez-Sanchez M.E., Criado-Garcia O., Heath K.E., Garcia-Fojeda B., Medrano-Fernandez I., Gomez-Garre P., Sanz P., Serratosa J.M., Rodriguez de Cordoba S.
Hum. Mol. Genet. 12:3161-3171(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH EPM2A, MUTAGENESIS OF VAL-85; PHE-87; ASP-247 AND ASP-250.
[9]"Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)."
Worby C.A., Gentry M.S., Dixon J.E.
J. Biol. Chem. 283:4069-4076(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION, INTERACTION WITH EPM2A.
[10]"A PTG variant contributes to a milder phenotype in Lafora disease."
Guerrero R., Vernia S., Sanz R., Abreu-Rodriguez I., Almaraz C., Garcia-Hoyos M., Michelucci R., Tassinari C.A., Riguzzi P., Nobile C., Sanz P., Serratosa J.M., Gomez-Garre P.
PLoS ONE 6:E21294-E21294(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-249.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y18207 mRNA. Translation: CAA77082.1.
AF110824 Genomic DNA. Translation: AAD33215.1. Sequence problems.
AK313149 mRNA. Translation: BAG35967.1.
BX537399 mRNA. Translation: CAD97641.1.
AL359986 Genomic DNA. Translation: CAH69995.1.
CH471066 Genomic DNA. Translation: EAW50107.1.
BC012625 mRNA. Translation: AAH12625.1.
CCDSCCDS7416.1.
RefSeqNP_005389.1. NM_005398.5.
UniGeneHs.303090.
Hs.744999.

3D structure databases

ProteinModelPortalQ9UQK1.
SMRQ9UQK1. Positions 134-262.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111500. 8 interactions.
IntActQ9UQK1. 3 interactions.
MINTMINT-6783827.
STRING9606.ENSP00000238994.

Protein family/group databases

CAZyCBM21. Carbohydrate-Binding Module Family 21.

PTM databases

PhosphoSiteQ9UQK1.

Polymorphism databases

DMDM146325084.

Proteomic databases

PaxDbQ9UQK1.
PRIDEQ9UQK1.

Protocols and materials databases

DNASU5507.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000238994; ENSP00000238994; ENSG00000119938.
GeneID5507.
KEGGhsa:5507.
UCSCuc001kho.3. human.

Organism-specific databases

CTD5507.
GeneCardsGC10M093378.
HGNCHGNC:9293. PPP1R3C.
HPAHPA027041.
MIM602999. gene.
neXtProtNX_Q9UQK1.
PharmGKBPA33653.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG288354.
HOGENOMHOG000026799.
HOVERGENHBG052744.
InParanoidQ9UQK1.
KOK07189.
OMAIVHVQWK.
OrthoDBEOG7H4DTW.
PhylomeDBQ9UQK1.
TreeFamTF105537.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9UQK1.
BgeeQ9UQK1.
CleanExHS_PPP1R3C.
GenevestigatorQ9UQK1.

Family and domain databases

InterProIPR005036. CBM_21.
IPR017434. Pase-1_Glycogen_target-su_met.
[Graphical view]
PfamPF03370. CBM_21. 1 hit.
[Graphical view]
PIRSFPIRSF038207. PP1_GT_animal. 1 hit.
PROSITEPS51159. CBM21. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPPP1R3C.
GenomeRNAi5507.
NextBio21304.
PROQ9UQK1.
SOURCESearch...

Entry information

Entry namePPR3C_HUMAN
AccessionPrimary (citable) accession number: Q9UQK1
Secondary accession number(s): B2R7X0, O95686
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: July 9, 2014
This is version 85 of the entry and version 2 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 10

Human chromosome 10: entries, gene names and cross-references to MIM