PPP1R3A (protein phosphatase 1 regulatory subunit 3A)

Gene

• Entrez ID: 5506
• Gene name: Protein phosphatase 1 regulatory subunit 3A
• Gene symbol: PPP1R3A
• Synonyms (NCBI Gene): GM, PP1G, PPP1R3
• Chromosome: 7
• Chromosome location: 7q31.1
• Summary: 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 g

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799999	C>A	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019325	hsa-miR-148b-3p	Microarray	17612493
MIRT1256495	hsa-miR-137	CLIP-seq
MIRT1256496	hsa-miR-25	CLIP-seq
MIRT1256497	hsa-miR-32	CLIP-seq
MIRT1256498	hsa-miR-363	CLIP-seq
MIRT1256499	hsa-miR-3646	CLIP-seq
MIRT1256500	hsa-miR-367	CLIP-seq
MIRT1256501	hsa-miR-4696	CLIP-seq
MIRT1256502	hsa-miR-539	CLIP-seq
MIRT1256503	hsa-miR-92a	CLIP-seq
MIRT1256504	hsa-miR-92b	CLIP-seq
MIRT2075519	hsa-miR-204	CLIP-seq
MIRT2075520	hsa-miR-205	CLIP-seq
MIRT2075521	hsa-miR-211	CLIP-seq
MIRT2075522	hsa-miR-335	CLIP-seq
MIRT1256499	hsa-miR-3646	CLIP-seq
MIRT2302199	hsa-miR-203	CLIP-seq
MIRT2302200	hsa-miR-4517	CLIP-seq
MIRT2302201	hsa-miR-488	CLIP-seq
MIRT2302202	hsa-miR-548c-3p	CLIP-seq
MIRT2075520	hsa-miR-205	CLIP-seq
MIRT2075522	hsa-miR-335	CLIP-seq
MIRT1256499	hsa-miR-3646	CLIP-seq
MIRT2598878	hsa-miR-548a-3p	CLIP-seq
MIRT2598879	hsa-miR-548ae	CLIP-seq
MIRT2598880	hsa-miR-548aj	CLIP-seq
MIRT2598881	hsa-miR-548am	CLIP-seq
MIRT2598882	hsa-miR-548e	CLIP-seq
MIRT2598883	hsa-miR-548f	CLIP-seq
MIRT2598884	hsa-miR-548x	CLIP-seq
MIRT2075520	hsa-miR-205	CLIP-seq
MIRT2075522	hsa-miR-335	CLIP-seq
MIRT1256499	hsa-miR-3646	CLIP-seq
MIRT2598878	hsa-miR-548a-3p	CLIP-seq
MIRT2598879	hsa-miR-548ae	CLIP-seq
MIRT2598880	hsa-miR-548aj	CLIP-seq
MIRT2598881	hsa-miR-548am	CLIP-seq
MIRT2598882	hsa-miR-548e	CLIP-seq
MIRT2598883	hsa-miR-548f	CLIP-seq
MIRT2598884	hsa-miR-548x	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000164	Component	Protein phosphatase type 1 complex	IBA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005979	Process	Regulation of glycogen biosynthetic process	IBA
GO:0008157	Function	Protein phosphatase 1 binding	IBA
GO:0016020	Component	Membrane	IEA
GO:2001069	Function	Glycogen binding	IBA

Other IDs

• MIM: 600917
• HGNC: 9291
• e!Ensembl: ENSG00000154415

Protein

• UniProt ID: Q16821
• Protein name: Protein phosphatase 1 regulatory subunit 3A (Protein phosphatase 1 glycogen-associated regulatory subunit) (Protein phosphatase type-1 glycogen targeting subunit) (RG1)
• Protein 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
• PDB: 5ZQV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03370	CBM_21	122 → 230	Carbohydrate/starch-binding module (family 21)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Skeletal muscle and heart. {ECO:0000269|PubMed:9726244}.
• Sequence:

  MEPSEVPSQISKDNFLEVPNLSDSLCEDEEVTFQPGFSPQPSRRGSDSSEDIYLDTPSSG
  TRRVSFADSFGFNLVSVKEFDCWELPSASTTFDLGTDIFHTEEYVLAPLFDLPSSKEDLM
  QQLQIQKAILESTESLLGSTSIKGIIRVLNVSFEKLVYVRMSLDDWQTHYDILAEYVPNS
  CDGETDQFSFKIVLVPPYQKDGSKVEFCIRYETSVGTFWSNNNGTNYTFICQKKEQEPEP
  VKPWKEVPNRQIKGCLKVKSSKEESSVTSEENNFENPKNTDTYIPTIICSHEDKEDLEAS
  NRNVKDVNREHDEHNEKELELMINQHLIRTRSTASRDERNTFSTDPVNFPNKAEGLEKKQ
  IHGEICTDLFQRSLSPSSSAESSVKGDFYCNEKYSSGDDCTHQPSEETTSNMGEIKPSLG
  DTSSDELVQLHTGSKEVLDDNANPAHGNGTVQIPCPSSDQLMAGNLNKKHEGGAKNIEVK
  DLGCLRRDFHSDTSACLKESTEEGSSKEDYYGNGKDDEEQRIYLGVNEKQRKNFQTILHD
  QERKMGNPKISVAGIGASNRDLATLLSEHTAIPTRAITADVSHSPRTNLSWEEAVLTPEH
  HHLTSEGSALGGITGQVCSSRTGNVLRNDYLFQVEEKSGGINSEDQDNSPQHKQSWNVLE
  SQGKSRENKTNITEHIKGQTDCEDVWGKRDNTRSLKATTEELFTCQETVCCELSSLADHG
  ITEKAEAGTAYIIKTTSESTPESMSAREKAIIAKLPQETARSDRPIEVKETAFDPHEGRN
  DDSHYTLCQRDTVGVIYDNDFEKESRLGICNVRVDEMEKEETMSMYNPRKTHDREKCGTG
  NITSVEESSWVITEYQKATSKLDLQLGMLPTDKTVFSENRDLRQVQELSKKTDSDAIVHS
  AFNSDTNRAPQNSSPFSKHHTEISVSTNEQAIAVENAVTTMASQPISTKSENICNSTREI
  QGIEKHPYPESKPEEVSRSSGIVTSGSRKERCIGQIFQTEEYSVEKSLGPMILINKPLEN
  MEEARHENEGLVSSGQSLYTSGEKESDSSASTSLPVEESQAQGNESLFSKYTNSKIPYFL
  LFLIFLITVYHYDLMIGLTFYVLSLSWLSWEEGRQKESVKKK

• Sequence length: 1122

Pathways

KEGG:

Insulin signaling pathway
Insulin resistance

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE II, DIGENIC	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCEMIA VARIATION	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE, SEVERE, DIGENIC	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin resistance, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPP1R3A-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 2 diabetes mellitus	Benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	12185156	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	12185156		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31185731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	10698503		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15870946		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15870946		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31235787		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12831406		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12831406		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	12831406	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	12185156, 12831406, 23133645	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10389856, 10479482, 10868947, 11793847, 12185156, 12831406, 15181086, 26251103, 29948331, 7581368, 7926294, 9653600, 9726244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	7926294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37033211	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31235787		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	10995882		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	12185156	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	22106036		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31109699		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10995882		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16166318		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10698503, 14767517		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	10995882		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	22728707	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10698503, 10995882, 16166318		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15181086		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31109699	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29747774	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29747774	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	19095951	Inhibit	★☆☆☆☆ Found in Text Mining only