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Q16821

- PPR3A_HUMAN

UniProt

Q16821 - PPR3A_HUMAN

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Protein

Protein phosphatase 1 regulatory subunit 3A

Gene

PPP1R3A

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).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

Membrane By similarity; Single-pass membrane protein By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1078 – 109821HelicalSequence AnalysisAdd
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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
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 3APRO_0000071500Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei38 – 381Phosphoserine; by GSK3By similarity
Modified residuei42 – 421Phosphoserine; by GSK3By similarity
Modified residuei46 – 461Phosphoserine; by PKA and ISPKBy similarity
Modified residuei65 – 651Phosphoserine; by PKABy 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

MaxQBiQ16821.
PaxDbiQ16821.
PRIDEiQ16821.

PTM databases

PhosphoSiteiQ16821.

Expressioni

Tissue specificityi

Skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiQ16821.
CleanExiHS_PPP1R3A.
ExpressionAtlasiQ16821. baseline and differential.
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 100-235.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini122 – 230109CBM21PROSITE-ProRule annotationAdd
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

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG288354.
GeneTreeiENSGT00530000062978.
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

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

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. 1 PublicationVSP_011585Add
BLAST
Alternative sequencei75 – 11221048Missing in isoform 2. 1 PublicationVSP_011586Add
BLAST

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.1. human. [Q16821-1]

Polymorphism databases

DMDMi298286906.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 .
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 100-235.
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

MaxQBi Q16821.
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.
GeneTreei ENSGT00530000062978.
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.
ExpressionAtlasi Q16821. baseline and differential.
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: October 29, 2014
This is version 109 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