The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthas... See more...

Aliases for PPP1R3A Gene

Aliases for PPP1R3A Gene

  • Protein Phosphatase 1 Regulatory Subunit 3A 2 3 4 5
  • Glycogen-Associated Regulatory Subunit Of Protein Phosphatase-1 2 3
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3A 2 3
  • Protein Phosphatase Type-1 Glycogen Targeting Subunit 3 4
  • Protein Phosphatase 1 Regulatory Subunit GM 2 3
  • PP1G 3 4
  • RG1 3 4
  • GM 2 3
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3A (Glycogen And Sarcoplasmic Reticulum Binding Subunit, Skeletal Muscle) 2
  • Type-1 Protein Phosphatase Skeletal Muscle Glycogen Targeting Subunit 3
  • Glycogen And Sarcoplasmic Reticulum Binding Subunit, Skeletal Muscle 3
  • Protein Phosphatase 1 Glycogen- Associated Regulatory Subunit 3
  • Protein Phosphatase 1 Glycogen-Associated Regulatory Subunit 4
  • Serine /Threonine Specific Protein Phosphatase 3
  • Protein Phosphatase 1, Regulatory Subunit 3A 2
  • PPP1R3A 5
  • PPP1R3 3

External Ids for PPP1R3A Gene

Previous HGNC Symbols for PPP1R3A Gene

  • PPP1R3

Previous GeneCards Identifiers for PPP1R3A Gene

  • GC07M111992
  • GC07M113055
  • GC07M113068
  • GC07M113108
  • GC07M113301
  • GC07M113516
  • GC07M107880

Summaries for PPP1R3A Gene

Entrez Gene Summary for PPP1R3A Gene

  • The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPP1R3A Gene

PPP1R3A (Protein Phosphatase 1 Regulatory Subunit 3A) is a Protein Coding gene. Diseases associated with PPP1R3A include Type 2 Diabetes Mellitus and Diabetes Mellitus. Among its related pathways are Beta-Adrenergic Signaling and Insulin resistance. An important paralog of this gene is PPP1R3F.

UniProtKB/Swiss-Prot Summary for PPP1R3A Gene

  • 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).

Gene Wiki entry for PPP1R3A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R3A Gene

Genomics for PPP1R3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J113918 Promoter/Enhancer 1.2 VISTA EPDnew Ensembl ENCODE 282.8 +159.1 159119 4.8 EZH2 CTCF PPP1R3A piR-31199-337 piR-61807 SMIM30
GH07J114081 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.3 -9.5 -9453 6.9 ZNF654 ZNF600 ZNF580 ATF2 CEBPA ZNF223 ZNF10 ZSCAN16 BRCA1 POLR2A FOXP2 lnc-PPP1R3A-5 PPP1R3A lnc-MDFIC-7 HSALNG0060676
GH07J114047 Enhancer 0.7 FANTOM5 ENCODE 12 +27.8 27757 1 ZNF10 IRF2 STAT3 PRDM10 CEBPB ZNF335 PPP1R3A FOXP2 piR-39279-045 HSALNG0060674 SMIM30
GH07J114051 Enhancer 0.7 FANTOM5 ENCODE 12 +23.7 23699 0.2 SPI1 IKZF1 BMI1 IKZF2 MTA2 DPF2 RELB PPP1R3A FOXP2 piR-39279-045 HSALNG0060674 SMIM30
GH07J113824 Enhancer 0.6 Ensembl 11.2 +250.3 250319 3.2 JUND CEBPB FEZF1 ZNF843 GLIS1 PRDM4 ZFP69B ZNF324 ZNF692 CREB1 PPP1R3A piR-61807 MG828668-112 SMIM30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R3A

Top Transcription factor binding sites by QIAGEN in the PPP1R3A gene promoter:
  • AML1a
  • CUTL1
  • E47
  • Evi-1
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • RelA

Genomic Locations for PPP1R3A Gene

Latest Assembly
chr7:113,876,777-114,075,920
(GRCh38/hg38)
Size:
199,144 bases
Orientation:
Minus strand

Previous Assembly
chr7:113,516,832-113,559,064
(GRCh37/hg19 by Entrez Gene)
Size:
42,233 bases
Orientation:
Minus strand

chr7:113,516,832-113,715,975
(GRCh37/hg19 by Ensembl)
Size:
199,144 bases
Orientation:
Minus strand

Genomic View for PPP1R3A Gene

Genes around PPP1R3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R3A Gene

Proteins for PPP1R3A Gene

  • Protein details for PPP1R3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16821-PPR3A_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 3A
    Protein Accession:
    Q16821
    Secondary Accessions:
    • A0AVQ2
    • A4D0T6
    • O43476
    • Q75LN8
    • Q7KYM8
    • Q86UI6

    Protein attributes for PPP1R3A Gene

    Size:
    1122 amino acids
    Molecular mass:
    125767 Da
    Quaternary structure:
    • Interacts with PPP1CC catalytic subunit of PP1, and associates with glycogen.
    SequenceCaution:
    • Sequence=AAS07492.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for PPP1R3A Gene

    Alternative splice isoforms for PPP1R3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R3A Gene

Post-translational modifications for PPP1R3A Gene

  • Phosphorylation at Ser-46 by ISPK stimulates the dephosphorylation of glycogen synthase and phosphorylase kinase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R3A Gene

Antibodies for research

  • Biorbyt antibodies for PPP1R3A
  • Boster Bio Antibodies for PPP1R3A
  • Santa Cruz Biotechnology (SCBT) Antibodies for PPP1R3A

No data available for DME Specific Peptides for PPP1R3A Gene

Domains & Families for PPP1R3A Gene

Gene Families for PPP1R3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PPP1R3A Gene

InterPro:
Blocks:
  • Putative phosphatase regulatory subunit

Suggested Antigen Peptide Sequences for PPP1R3A Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase type-1 glycogen targeting subunit (PPR3A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16821

UniProtKB/Swiss-Prot:

PPR3A_HUMAN :
  • The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.
Domain:
  • The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.
genes like me logo Genes that share domains with PPP1R3A: view

Function for PPP1R3A Gene

Molecular function for PPP1R3A Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for PPP1R3A Gene

Gene Ontology (GO) - Molecular Function for PPP1R3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008157 protein phosphatase 1 binding IBA 21873635
GO:2001069 glycogen binding IBA 21873635
genes like me logo Genes that share ontologies with PPP1R3A: view
genes like me logo Genes that share phenotypes with PPP1R3A: view

Human Phenotype Ontology for PPP1R3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPP1R3A Gene

MGI Knock Outs for PPP1R3A:

miRNA for PPP1R3A Gene

miRTarBase miRNAs that target PPP1R3A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PPP1R3A Gene

Localization for PPP1R3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R3A Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R3A gene
Compartment Confidence
nucleus 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PPP1R3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PPP1R3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPP1R3A Gene

Pathways & Interactions for PPP1R3A Gene

PathCards logo

SuperPathways for PPP1R3A Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Beta-Adrenergic Signaling
.37
.37
.37
.36
3 Regulation of lipid metabolism Insulin signaling-generic cascades
.59
4 Insulin resistance
5 mTOR Pathway
genes like me logo Genes that share pathways with PPP1R3A: view

Pathways by source for PPP1R3A Gene

2 BioSystems pathways for PPP1R3A Gene
2 KEGG pathways for PPP1R3A Gene
1 GeneGo (Thomson Reuters) pathway for PPP1R3A Gene
  • Regulation of lipid metabolism Insulin signaling-generic cascades
1 Tocris pathway for PPP1R3A Gene
14 Qiagen pathways for PPP1R3A Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway

SIGNOR curated interactions for PPP1R3A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PPP1R3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IEA --
GO:0005979 regulation of glycogen biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with PPP1R3A: view

Drugs & Compounds for PPP1R3A Gene

(3) Drugs for PPP1R3A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for PPP1R3A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PPP1R3A: view

Transcripts for PPP1R3A Gene

mRNA/cDNA for PPP1R3A Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3A

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R3A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:

Relevant External Links for PPP1R3A Gene

GeneLoc Exon Structure for
PPP1R3A

Expression for PPP1R3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R3A Gene

mRNA differential expression in normal tissues according to GTEx for PPP1R3A Gene

This gene is overexpressed in Muscle - Skeletal (x23.5), Heart - Left Ventricle (x19.0), and Heart - Atrial Appendage (x9.4).

Protein differential expression in normal tissues from HIPED for PPP1R3A Gene

This gene is overexpressed in Platelet (29.9), Pancreatic juice (25.4), and Heart (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPP1R3A Gene



Protein tissue co-expression partners for PPP1R3A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R3A

SOURCE GeneReport for Unigene cluster for PPP1R3A Gene:

Hs.458309

mRNA Expression by UniProt/SwissProt for PPP1R3A Gene:

Q16821-PPR3A_HUMAN
Tissue specificity: Skeletal muscle and heart.

Evidence on tissue expression from TISSUES for PPP1R3A Gene

  • Muscle(4.6)
  • Heart(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • salivary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PPP1R3A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PPP1R3A Gene

Orthologs for PPP1R3A Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP1R3A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R3A 29 30
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R3A 29 30
  • 87.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP1R3A 29 30
  • 86.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r3a 29
  • 77.74 (n)
Mouse
(Mus musculus)
Mammalia Ppp1r3a 29 16 30
  • 77.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPP1R3A 30
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R3A 30
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPP1R3A 29 30
  • 58.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R3A 30
  • 37 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ppp1r3ab 30
  • 23 (a)
OneToMany
ppp1r3aa 30
  • 19 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Gbs-76A 30
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CC8.2 30
  • 24 (a)
OneToMany
Species where no ortholog for PPP1R3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PPP1R3A Gene

ENSEMBL:
Gene Tree for PPP1R3A (if available)
TreeFam:
Gene Tree for PPP1R3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R3A: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R3A

Paralogs for PPP1R3A Gene

Paralogs for PPP1R3A Gene

genes like me logo Genes that share paralogs with PPP1R3A: view

Variants for PPP1R3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R3A Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
917436 Uncertain Significance: Monogenic diabetes 113,878,120(-) C/T
NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys)
MISSENSE
917447 Uncertain Significance: Monogenic diabetes 113,877,832(-) A/C
NM_002711.4(PPP1R3A):c.3260T>G (p.Ile1087Arg)
MISSENSE
917448 Likely Benign: Monogenic diabetes 113,878,207(-) C/T
NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp)
MISSENSE
917449 Uncertain Significance: Monogenic diabetes 113,878,270(-) A/G
NM_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr)
MISSENSE
917450 Uncertain Significance: Monogenic diabetes 113,878,271(-) T/C
NM_002711.4(PPP1R3A):c.2821A>G (p.Met941Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R3A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPP1R3A Gene

Variant ID Type Subtype PubMed ID
nsv7405 OTHER inversion 18451855
nsv824277 CNV loss 20364138
nsv831100 CNV gain 17160897

Variation tolerance for PPP1R3A Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.94; 93.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R3A Gene

Human Gene Mutation Database (HGMD)
PPP1R3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R3A
Leiden Open Variation Database (LOVD)
PPP1R3A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R3A Gene

Disorders for PPP1R3A Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP1R3A Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PPR3A_HUMAN
  • 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. {ECO:0000269 PubMed:7926294}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for PPP1R3A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPP1R3A: view

No data available for Genatlas for PPP1R3A Gene

Publications for PPP1R3A Gene

  1. 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. (PMID: 7581368) Hansen L … Pedersen O (Human molecular genetics 1995) 3 4 40 72
  2. Sequence of the human glycogen-associated regulatory subunit of type 1 protein phosphatase and analysis of its coding region and mRNA level in muscle from patients with NIDDM. (PMID: 7926294) Chen YH … Pedersen O (Diabetes 1994) 2 3 4 22
  3. Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population. (PMID: 16276364) Pollex RL … Hegele RA (International journal of obesity (2005) 2006) 3 22 40
  4. PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis. (PMID: 15870946) Hayashida Y … Yamaguchi A (Oncology reports 2005) 3 22 40
  5. Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome. (PMID: 15181086) Alcoser SY … Ehrmann DA (The Journal of clinical endocrinology and metabolism 2004) 3 22 40

Products for PPP1R3A Gene

  • Biorbyt antibodies for PPP1R3A

Sources for PPP1R3A Gene