Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5506
Gene name	Protein phosphatase 1 regulatory subunit 3A
Gene symbol	PPP1R3A
Synonyms (NCBI Gene)	GMPP1GPPP1R3
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

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

Show/Hide all (40)

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

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GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
600917	9291	ENSG00000154415

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

Interactions

View interactions

	KEGG
	Insulin signaling pathway Insulin resistance

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DIABETES MELLITUS, TYPE II, DIGENIC	Uncertain significance	rs527638422	RCV002280817
GLYCEMIA VARIATION	association	rs386716957	RCV000009246
INSULIN RESISTANCE, SEVERE, DIGENIC	Uncertain significance	rs527638422	RCV002280818
Insulin resistance, susceptibility to	Conflicting classifications of pathogenicity	rs1799999	RCV000009243
Monogenic diabetes	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs77456357, rs149701175, rs115322623, rs151310594, rs61756423, rs35067467, rs35398707, rs1057524893, rs527638422, rs35572169, rs1800000, rs767098711, rs138812345, rs141223649, rs8192687 View all (9 more)	RCV000445497 RCV000445539 RCV000445422 RCV000445490 RCV000445369 RCV000445436 RCV000445486 RCV000445362 RCV001174456 RCV000664162 RCV000664108 RCV000664110 RCV000664111 RCV000664112 RCV000664113 RCV000664115 RCV001174452 RCV001174429 RCV001174453 RCV001174454 RCV001174455 RCV001174457 RCV001174458 RCV001174484 RCV001174485
PPP1R3A-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs2974938, rs2974942, rs2974944, rs1799999, rs150106418, rs115322623, rs35067467, rs76910192, rs62001864	RCV003980794 RCV003980805 RCV003984084 RCV003974813 RCV003973892 RCV003960013 RCV003912786 RCV003918759 RCV003918760
Type 2 diabetes mellitus	Benign; Conflicting classifications of pathogenicity	rs2974938, rs2974942, rs2974944, rs1799999	RCV001789437 RCV001789443 RCV001789562 RCV001195983

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	12185156
Diabetes Mellitus	Associate	12831406
Diabetes Mellitus Type 2	Associate	12185156, 12831406, 23133645
Diabetic Nephropathies	Associate	37033211
Drug Related Side Effects and Adverse Reactions	Inhibit	22728707
Insulin Resistance	Associate	12185156
Nasal Polyps	Associate	22728707
Neoplasms	Inhibit	29747774
Squamous Cell Carcinoma of Head and Neck	Associate	31109699
Thyroid Cancer Papillary	Associate	29747774
Thyroid Neoplasms	Inhibit	29747774
Uterine Cervical Dysplasia	Inhibit	19095951

PPP1R3A (protein phosphatase 1 regulatory subunit 3A)