U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PPP6R1 protein phosphatase 6 regulatory subunit 1 [ Homo sapiens (human) ]

Gene ID: 22870, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
PPP6R1provided by HGNC
Official Full Name
protein phosphatase 6 regulatory subunit 1provided by HGNC
Primary source
HGNC:HGNC:29195
See related
Ensembl:ENSG00000105063 MIM:610875; AllianceGenome:HGNC:29195
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP6R1; SAPS1; SAP190; KIAA1115
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]
Expression
Broad expression in testis (RPKM 56.4), lymph node (RPKM 37.5) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
19q13.42
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55228218..55259017, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58322178..58352962, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55741147..55770385, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55701037-55701536 Neighboring gene protein tyrosine phosphatase receptor type H Neighboring gene uncharacterized LOC124904771 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55729317-55729503 Neighboring gene transmembrane protein 86B Neighboring gene microRNA 6804 Neighboring gene microRNA 6802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15084 Neighboring gene microRNA 6803 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55768465-55768658 Neighboring gene Sharpr-MPRA regulatory region 13763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55781781-55782280 Neighboring gene HSPA (Hsp70) binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55789069-55789569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11021 Neighboring gene BR serine/threonine kinase 1 Neighboring gene Sharpr-MPRA regulatory region 11129 Neighboring gene transmembrane protein 150B

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase. Hosing AS, et al. J Biol Chem, 2012 Mar 16. PMID 22298787, Free PMC Article
  2. Protein phosphatase 6 interacts with the DNA-dependent protein kinase catalytic subunit and dephosphorylates gamma-H2AX. Douglas P, et al. Mol Cell Biol, 2010 Mar. PMID 20065038, Free PMC Article
  3. Role of the Rho GTPase-activating protein RICS in neurite outgrowth. Nasu-Nishimura Y, et al. Genes Cells, 2006 Jun. PMID 16716191
  4. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. Stefansson B, et al. Biochemistry, 2008 Feb 5. PMID 18186651
  5. Protein phosphatase 6 regulates mitotic spindle formation by controlling the T-loop phosphorylation state of Aurora A bound to its activator TPX2. Zeng K, et al. J Cell Biol, 2010 Dec 27. PMID 21187329, Free PMC Article

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase.
    Title: PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC138185, MGC142003

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase binding IEA
Inferred from Electronic Annotation
more info
  
enables protein phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of phosphoprotein phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
serine/threonine-protein phosphatase 6 regulatory subunit 1
Names
SAPS domain family, member 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014931.4 → NP_055746.3  serine/threonine-protein phosphatase 6 regulatory subunit 1

    See identical proteins and their annotated locations for NP_055746.3

    Status: VALIDATED

    Source sequence(s)
    AC010327, AC116342, AL544921, BC002799, BG772019
    Consensus CDS
    CCDS46186.1
    UniProtKB/Swiss-Prot
    Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7
    Related
    ENSP00000414202.1, ENST00000412770.7
    Conserved Domains (2) summary
    PHA03195
    Location:742 → 875
    PHA03195; tegument protein VP11/12; Provisional
    pfam04499
    Location:128 → 519
    SAPS; SIT4 phosphatase-associated protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    55228218..55259017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438423.1 → XP_047294379.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  2. XM_047438429.1 → XP_047294385.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  3. XM_047438426.1 → XP_047294382.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  4. XM_047438425.1 → XP_047294381.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  5. XM_047438432.1 → XP_047294388.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  6. XM_047438431.1 → XP_047294387.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  7. XM_047438427.1 → XP_047294383.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  8. XM_047438424.1 → XP_047294380.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  9. XM_047438428.1 → XP_047294384.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  10. XM_047438422.1 → XP_047294378.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  11. XM_047438430.1 → XP_047294386.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  12. XM_047438420.1 → XP_047294376.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X1

  13. XM_047438421.1 → XP_047294377.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X2

    UniProtKB/Swiss-Prot
    Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    58322178..58352962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320227.1 → XP_054176202.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  2. XM_054320230.1 → XP_054176205.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  3. XM_054320229.1 → XP_054176204.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  4. XM_054320228.1 → XP_054176203.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  5. XM_054320226.1 → XP_054176201.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

  6. XM_054320224.1 → XP_054176199.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X1

  7. XM_054320225.1 → XP_054176200.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X2

    UniProtKB/Swiss-Prot
    Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UPN7.5 GenPept UniProtKB/Swiss-Prot:Q9UPN7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous