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Aliases for PPP1R17 Gene

Aliases for PPP1R17 Gene

  • Protein Phosphatase 1 Regulatory Subunit 17 2 3 3 5
  • G-Substrate 2 3 4
  • C7orf16 3 4
  • GSBS 3 4
  • Protein Phosphatase 1, Regulatory Subunit 17 2
  • Chromosome 7 Open Reading Frame 16 2

External Ids for PPP1R17 Gene

Previous HGNC Symbols for PPP1R17 Gene

  • C7orf16

Summaries for PPP1R17 Gene

Entrez Gene Summary for PPP1R17 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]

GeneCards Summary for PPP1R17 Gene

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17) is a Protein Coding gene. Diseases associated with PPP1R17 include Hypercholesterolemia, Familial. Among its related pathways are Long-term depression. Gene Ontology (GO) annotations related to this gene include protein phosphatase inhibitor activity and phosphatase inhibitor activity.

UniProtKB/Swiss-Prot for PPP1R17 Gene

  • Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes.

Gene Wiki entry for PPP1R17 Gene

Additional gene information for PPP1R17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R17 Gene

Genomics for PPP1R17 Gene

GeneHancer (GH) Regulatory Elements for PPP1R17 Gene

Promoters and enhancers for PPP1R17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J031687 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 666.8 +1.8 1786 1.4 SRF NANOG NR2F1 BACH1 BMI1 MEF2B DPF2 POLR2A IKZF1 ATF7 PPP1R17 GC07M031722 PDE1C
GH07J031688 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 650.7 +0.5 461 0.1 RFX1 POLR2A PPP1R17 GC07M031722 PDE1C
GH07J031652 Enhancer 0.5 ENCODE 11.4 -34.7 -34743 0.2 ZNF217 CTCF CEBPB CEBPG KLF4 PPP1R17 CCDC129 PDE1C
GH07J031710 Enhancer 0.4 ENCODE 11.8 +23.7 23707 0.2 NANOG POU5F1 EZH2 PPP1R17 GC07M031722 PDE1C
GH07J031664 Enhancer 0.4 FANTOM5 Ensembl 11.7 -21.6 -21614 0.6 PPP1R17 CCDC129 PDE1C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R17 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PPP1R17 Gene

Genomic Locations for PPP1R17 Gene
chr7:31,686,715-31,709,911
(GRCh38/hg38)
Size:
23,197 bases
Orientation:
Plus strand
chr7:31,726,329-31,748,069
(GRCh37/hg19)
Size:
21,741 bases
Orientation:
Plus strand

Genomic View for PPP1R17 Gene

Genes around PPP1R17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R17 Gene

Proteins for PPP1R17 Gene

  • Protein details for PPP1R17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96001-PPR17_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 17
    Protein Accession:
    O96001
    Secondary Accessions:
    • B4DE58
    • Q9UDQ0

    Protein attributes for PPP1R17 Gene

    Size:
    155 amino acids
    Molecular mass:
    17866 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PPP1R17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R17 Gene

Post-translational modifications for PPP1R17 Gene

  • Substrate for cGMP-dependent protein kinase. Phosphorylated by PRKG1 isoform alpha. Phosphorylation of Thr-68 and Thr-119 is required for its phosphatase activity (By similarity).
  • Substrate for cGMP-dependent protein kinase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R17 Gene

No data available for DME Specific Peptides for PPP1R17 Gene

Domains & Families for PPP1R17 Gene

Gene Families for PPP1R17 Gene

Protein Domains for PPP1R17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPP1R17 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PPP1R17: view

No data available for UniProtKB/Swiss-Prot for PPP1R17 Gene

Function for PPP1R17 Gene

Molecular function for PPP1R17 Gene

UniProtKB/Swiss-Prot Function:
Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes.

Gene Ontology (GO) - Molecular Function for PPP1R17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004865 protein serine/threonine phosphatase inhibitor activity IEA --
GO:0019212 phosphatase inhibitor activity IEA --
genes like me logo Genes that share ontologies with PPP1R17: view
genes like me logo Genes that share phenotypes with PPP1R17: view

Animal Models for PPP1R17 Gene

MGI Knock Outs for PPP1R17:

Animal Model Products

CRISPR Products

miRNA for PPP1R17 Gene

miRTarBase miRNAs that target PPP1R17

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R17

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R17 Gene

Localization for PPP1R17 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R17 gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP1R17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with PPP1R17: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP1R17 Gene

Pathways & Interactions for PPP1R17 Gene

SuperPathways for PPP1R17 Gene

SuperPathway Contained pathways
1 Long-term depression
genes like me logo Genes that share pathways with PPP1R17: view

Pathways by source for PPP1R17 Gene

1 KEGG pathway for PPP1R17 Gene

Gene Ontology (GO) - Biological Process for PPP1R17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development NAS 10051666
GO:0010921 regulation of phosphatase activity ISS --
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
GO:0035556 intracellular signal transduction NAS 10051666
GO:0043086 negative regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PPP1R17: view

No data available for SIGNOR curated interactions for PPP1R17 Gene

Drugs & Compounds for PPP1R17 Gene

No Compound Related Data Available

Transcripts for PPP1R17 Gene

mRNA/cDNA for PPP1R17 Gene

Unigene Clusters for PPP1R17 Gene

Protein phosphatase 1, regulatory subunit 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R17

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R17 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1: -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for PPP1R17 Gene

GeneLoc Exon Structure for
PPP1R17
ECgene alternative splicing isoforms for
PPP1R17

Expression for PPP1R17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP1R17 Gene

This gene is overexpressed in Brain - Cerebellum (x19.6), Brain - Hypothalamus (x11.8), and Brain - Cerebellar Hemisphere (x6.3).

Protein differential expression in normal tissues from HIPED for PPP1R17 Gene

This gene is overexpressed in Fetal Brain (60.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPP1R17 Gene



Protein tissue co-expression partners for PPP1R17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP1R17 Gene:

PPP1R17

SOURCE GeneReport for Unigene cluster for PPP1R17 Gene:

Hs.227011

mRNA Expression by UniProt/SwissProt for PPP1R17 Gene:

O96001-PPR17_HUMAN
Tissue specificity: Highly expressed in cerebellum.

Evidence on tissue expression from TISSUES for PPP1R17 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with PPP1R17: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R17 Gene

Orthologs for PPP1R17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R17 34 33
  • 99.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPP1R17 34 33
  • 91.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R17 34 33
  • 90.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp1r17 33
  • 83.87 (n)
mouse
(Mus musculus)
Mammalia Ppp1r17 16 34 33
  • 83.23 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP1R17 34
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R17 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP1R17 34 33
  • 69.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R17 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r17 33
  • 59.04 (n)
Species where no ortholog for PPP1R17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PPP1R17 Gene

ENSEMBL:
Gene Tree for PPP1R17 (if available)
TreeFam:
Gene Tree for PPP1R17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R17: view image

Paralogs for PPP1R17 Gene

No data available for Paralogs for PPP1R17 Gene

Variants for PPP1R17 Gene

Sequence variations from dbSNP and Humsavar for PPP1R17 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs36047130 benign, not specified 31,692,470(+) T/A/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000062354 -- 31,710,044(+) G/A downstream_transcript_variant
rs1000064606 -- 31,687,830(+) G/C intron_variant
rs1000096450 -- 31,695,559(+) C/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs1000253925 -- 31,704,128(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPP1R17 Gene

Variant ID Type Subtype PubMed ID
esv2752155 CNV gain 17911159
esv3612723 CNV gain 21293372
esv3612724 CNV gain 21293372
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297

Variation tolerance for PPP1R17 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.87; 83.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R17 Gene

Disorders for PPP1R17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP1R17 Gene - From: OMIM, ClinVar, and GTR

Disorder Aliases PubMed IDs
hypercholesterolemia, familial
  • fhc; fh
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R17

genes like me logo Genes that share disorders with PPP1R17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R17 Gene

Publications for PPP1R17 Gene

  1. Phosphorylation-dependent inhibition of protein phosphatase-1 by G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent protein kinase. (PMID: 9920894) Hall KU … Uhler MD (The Journal of biological chemistry 1999) 2 3 4 58
  2. Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. (PMID: 10051666) Endo S … Ito M (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  5. G-substrate: the cerebellum and beyond. (PMID: 22340725) Endo S (Progress in molecular biology and translational science 2012) 3 58

Products for PPP1R17 Gene

Sources for PPP1R17 Gene

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