PPP1R17
Protein phosphatase 1 regulatory subunit 17
Also known as: C7orf16, GSBS, PPR17_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O96001
- Gene
- PPP1R17
- Ensembl
- ENSG00000106341
- Chromosome
- 7
- Canonical length
- 155 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Canonical amino-acid sequenceUniProt
155 residues, UniProt reviewed canonical sequence.
>O96001|PPP1R17
1 MMSTEQMQPL ELSEDRLDKL DPRCSHLDDL SDQFIKDCDL KKKPRKGKNV QATLNVESDQ
61 KKPRRKDTPA LHIPPFIPGV FSEHLIKRYD VQERHPKGKM IPVLHNTDLE QKKPRRKDTP
121 ALHMSPFAAG VTLLRDERPK AIVEDDEKDG DKIAILocalizationUniProt · AlphaFold · HPA
Whether an antibody against PPP1R17 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 22 nTPM
- hypothalamus: 11 nTPM
- adrenal gland: 4.3 nTPM
- pituitary gland: 3.1 nTPM
- midbrain: 2 nTPM
- cerebral cortex: 1.9 nTPM
Single-cell type
- late spermatids: 179 nCPM
- early spermatids: 64 nCPM
- cardiomyocytes: 49 nCPM
- adrenal medulla cells: 21 nCPM
- corticotrophs: 19 nCPM
- other brain neurons: 11 nCPM
Immune cell
- non-classical monocyte: 52 nTPM
- intermediate monocyte: 12 nTPM
- myeloid DC: 2.4 nTPM
- total PBMC: 0.8 nTPM
- naive B-cell: 0.3 nTPM
- classical monocyte: 0.1 nTPM
Brain region
- cerebellum: 41 nTPM
- thalamus: 35 nTPM
- midbrain: 21 nTPM
- amygdala: 19 nTPM
- hypothalamus: 18 nTPM
- cerebral cortex: 6.4 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.56
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.02
- DepMap mean gene effect
- 0.18
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- central nervous system development
- intracellular signal transduction
- regulation of phosphatase activity
Molecular functions
Protein domainsUniProt · Pfam · InterPro
- Protein phosphatase 1 regulatory subunit 17
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PPP1R17 as an antibody target. Whether an autoantibody or antibody against PPP1R17 could matter depends on whether native PPP1R17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PPP1R17 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PPP1R17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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