Gene: PPP6R1

Alternate names for this Gene: KIAA1115|PP6R1|SAP190|SAPS1

Gene Summary: Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.171589.1, AB029038.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000412770.7/ ENSP00000414202.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: protein phosphatase 6 regulatory subunit 1

Type of Gene: protein-coding

rs73068668 in PPP6R1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.