Gene Gene information from NCBI Gene database.
Entrez ID 22870
Gene name Protein phosphatase 6 regulatory subunit 1
Gene symbol PPP6R1
Synonyms (NCBI Gene)
KIAA1115PP6R1SAP190SAPS1
Chromosome 19
Chromosome location 19q13.42
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
miRNA miRNA information provided by mirtarbase database.
453
miRTarBase ID miRNA Experiments Reference
MIRT036308 hsa-miR-1229-3p CLASH 23622248
MIRT036111 hsa-miR-1296-5p CLASH 23622248
MIRT716679 hsa-miR-4639-3p HITS-CLIP 19536157
MIRT716677 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT716678 hsa-miR-2276-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14743216, 16769727, 18186651, 21187329, 24255178, 28330616, 33961781, 35271311
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610875 29195 ENSG00000105063
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPN7
Protein name Serine/threonine-protein phosphatase 6 regulatory subunit 1 (SAPS domain family member 1)
Protein function Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04499 SAPS 128 378 SIT4 phosphatase-associated protein Family
PF04499 SAPS 372 519 SIT4 phosphatase-associated protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous with higher expression in testis. {ECO:0000269|PubMed:16769727}.
Sequence
MFWKFDLHTSSHLDTLLEREDLSLPELLDEEDVLQECKVVNRKLLDFLLQPPHLQAMVAW
VTQEPPDSGEERLRYKYPSVACEILTSDVPQINDALGADESLLNRLYGFLQSTGSLNPLL
ASFFSKVMGILINRKTDQLVSFLRKKDDFVDLLLQHIGTSAIMDLLLRLLTCVERPQLRQ
DVVNWLNEEKIVQRLIEQIHPSKDENQHSNASQSLCDIIRLSREQMIQVQDSPEPDQLLA
TLEKQETIEQLLSNMFEGEQSQSVIVSGIQVLLTLLEPRRPRSESVTVNSFFSSVDGQLE
LLAQGALESTVSSVGALHALRPRLSCFHQLLLEPPKLEPLQMTWGMLAPPLGNTRLHVVK
LLASALSANDA
ALTHELLALDVPNTMLDLFFHYVFNNFLHAQVEGCVSTMLSLGPPPDSS
PETPIQNPVVKHLLQQCRLVERILTSWEENDRVQCAGGPRKGYMGHLTRVAGALVQNTEK
GPNAEQLRQLLKELPSEQQEQWEAFVSGPLAETNKKNMV
DLVNTHHLHSSSDDEDDRLKE
FNFPEEAVLQQAFMDFQMQRMTSAFIDHFGFNDEEFGEQEESVNAPFDKTANITFSLNAD
DENPNANLLEICYKDRIQQFDDDEEEEDEEEAQGSGESDGEDGAWQGSQLARGARLGQPP
GVRSGGSTDSEDEEEEDEEEEEDEEGIGCAARGGATPLSYPSPGPQPPGPSWTATFDPVP
TDAPTSPRVSGEEELHTGPPAPQGPLSVPQGLPTQSLASPPARDALQLRSQDPTPPSAPQ
EATEGSKVTEPSAPCQALVSIGDLQATFHGIRSAPSSSDSATRDPSTSVPASGAHQPPQT
TEGEKSPEPLGLPQSQSAQALTPPPIPNGSAPEGPASPGSQ
Sequence length 881
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CUTANEOUS LEISHMANIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Glioblastoma Associate 19198648
★☆☆☆☆
Found in Text Mining only