Gene Gene information from NCBI Gene database.
Entrez ID 5502
Gene name Protein phosphatase 1 regulatory inhibitor subunit 1A
Gene symbol PPP1R1A
Synonyms (NCBI Gene)
I1IPP1
Chromosome 12
Chromosome location 12q13.2
miRNA miRNA information provided by mirtarbase database.
143
miRTarBase ID miRNA Experiments Reference
MIRT018310 hsa-miR-335-5p Microarray 18185580
MIRT038385 hsa-miR-296-3p CLASH 23622248
MIRT519160 hsa-miR-4678 HITS-CLIP 21572407
MIRT519159 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT519158 hsa-miR-4469 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0004865 Function Protein serine/threonine phosphatase inhibitor activity TAS 8611507
GO:0005515 Function Protein binding IPI 11564868, 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005977 Process Glycogen metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613246 9286 ENSG00000135447
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13522
Protein name Protein phosphatase 1 regulatory subunit 1A (Protein phosphatase inhibitor 1) (I-1) (IPP-1)
Protein function Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05395 DARPP-32 3 166 Protein phosphatase inhibitor 1/DARPP-32 Family
Sequence
Sequence length 171
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Low-frequency hearing loss Conflicting classifications of pathogenicity rs202211027 RCV002246210
Low-frequency sensorineural hearing impairment Conflicting classifications of pathogenicity rs202211027 RCV002246210
Rosette-forming glioneuronal tumor Uncertain significance rs1064792893 RCV000487426
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 32883362
Colorectal Neoplasms Associate 37596405
Diabetes Mellitus Type 2 Associate 29185012, 32705173
Heart Failure Associate 18192322, 18698139