Human Gene PPP1R3A (ENST00000284601.4_7) from GENCODE V47lift37
  Description: protein phosphatase 1 regulatory subunit 3A (from RefSeq NM_002711.4)
Gencode Transcript: ENST00000284601.4_7
Gencode Gene: ENSG00000154415.8_10
Transcript (Including UTRs)
   Position: hg19 chr7:113,516,832-113,559,064 Size: 42,233 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr7:113,517,778-113,559,051 Size: 41,274 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:113,516,832-113,559,064)mRNA (may differ from genome)Protein (1122 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PPR3A_HUMAN
DESCRIPTION: RecName: Full=Protein phosphatase 1 regulatory subunit 3A; AltName: Full=Protein phosphatase 1 glycogen-associated regulatory subunit; AltName: Full=Protein phosphatase type-1 glycogen targeting subunit; Short=RG1;
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: 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.
DOMAIN: The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.
PTM: Phosphorylation at Ser-46 by ISPK stimulates the dephosphorylation of glycogen synthase and phosphorylase kinase (By similarity).
DISEASE: Defects in PPP1R3A are a cause of susceptibility to noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as diabetes mellitus type II. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance.
SIMILARITY: Contains 1 CBM21 (carbohydrate binding type-21) domain.
SEQUENCE CAUTION: Sequence=AAS07492.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPP1R3A
Diseases sorted by gene-association score: diabetes mellitus, noninsulin-dependent* (610), lipodystrophy, familial partial, type 3* (283), rippling muscle disease (13), embryonal testis carcinoma (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.62 RPKM in Muscle - Skeletal
Total median expression: 36.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -197.40946-0.209 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005036 - CBM_21

Pfam Domains:
PF03370 - Carbohydrate/starch-binding module (family 21)
PF16760 - Starch/carbohydrate-binding module (family 53)

ModBase Predicted Comparative 3D Structure on Q16821
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  X78578 - H.sapiens PPP1R3 mRNA for protein phosphatase 1, glycogen-binding regulatory subunit.
BC017405 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3A, mRNA (cDNA clone IMAGE:4292767), with apparent retained intron.
JD496083 - Sequence 477107 from Patent EP1572962.
JD041910 - Sequence 22934 from Patent EP1572962.
JD058132 - Sequence 39156 from Patent EP1572962.
JD342991 - Sequence 324015 from Patent EP1572962.
JD385196 - Sequence 366220 from Patent EP1572962.
BC126451 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3A, mRNA (cDNA clone MGC:161729 IMAGE:8992167), complete cds.
BC126453 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3A, mRNA (cDNA clone MGC:161731 IMAGE:8992169), complete cds.
HQ258594 - Synthetic construct Homo sapiens clone IMAGE:100073132 protein phosphatase 1, regulatory (inhibitor) subunit 3A (PPP1R3A) gene, encodes complete protein.
BC111452 - Synthetic construct Homo sapiens clone IMAGE:40080651, MGC:133439 PPP1R3A protein (PPP1R3A) mRNA, encodes complete protein.
AF024579 - Homo sapiens protein phosphatase type-1 glycogen targeting subunit (PPP1R3) mRNA, complete cds.
BC056666 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle), mRNA (cDNA clone IMAGE:4338199).
BC070313 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle), mRNA (cDNA clone IMAGE:4289473).

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVQ2, A4D0T6, ENST00000284601.1, ENST00000284601.2, ENST00000284601.3, NM_002711, O43476, PP1G, PPR3A_HUMAN, Q16821, Q75LN8, Q7KYM8, Q86UI6, uc317kfl.1, uc317kfl.2
UCSC ID: ENST00000284601.4_7
RefSeq Accession: NM_002711.4
Protein: Q16821 (aka PPR3A_HUMAN or PP3A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.