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PPP1R17 protein phosphatase 1 regulatory subunit 17 [ Homo sapiens (human) ]

Gene ID: 10842, updated on 21-Mar-2023

Summary

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Official Symbol
PPP1R17provided by HGNC
Official Full Name
protein phosphatase 1 regulatory subunit 17provided by HGNC
Primary source
HGNC:HGNC:16973
See related
Ensembl:ENSG00000106341 MIM:604088; AllianceGenome:HGNC:16973
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSBS; C7orf16
Summary
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]
Expression
Biased expression in adrenal (RPKM 1.4), brain (RPKM 0.7) and 3 other tissues See more
Orthologs
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Genomic context

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See PPP1R17 in Genome Data Viewer
Location:
7p14.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31687215..31708455)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31825496..31846753)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31726829..31748069)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375224 Neighboring gene ITPR interacting domain containing 1 Neighboring gene phosphodiesterase 1C Neighboring gene Sharpr-MPRA regulatory region 14950 Neighboring gene sorting nexin 2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. G-substrate: the cerebellum and beyond. Endo S. Prog Mol Biol Transl Sci, 2012. PMID 22340725
  2. A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia. Ono S, et al. J Hum Genet, 2003. PMID 12955585
  3. Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. Endo S, et al. Proc Natl Acad Sci U S A, 1999 Mar 2. PMID 10051666, Free PMC Article
  4. Phosphorylation-dependent inhibition of protein phosphatase-1 by G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent protein kinase. Hall KU, et al. J Biol Chem, 1999 Feb 5. PMID 9920894
  5. Familial Hypercholesterolemia. Adam MP, et al. , 1993. PMID 24404629

See all (15) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. G-substrate plays a role in the NO-sGC-cGMP-PKG pathway, cerebellum-dependent long-term memory, & neuroprotection of the ventral tegmentum and retina. Review.
    Title: G-substrate: the cerebellum and beyond.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
  4. Single nucleotide polymorphism in the GSBS gene is associated with hypercholesterolemia
    Title: A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypercholesterolemia, familial, 1
MedGen: C0745103 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein serine/threonine phosphatase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in central nervous system development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intracellular signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
protein phosphatase 1 regulatory subunit 17
Names
G-substrate

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_023417.1 RefSeqGene

    Range
    5199..26439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145123.3 → NP_001138595.1  protein phosphatase 1 regulatory subunit 17 isoform 2

    See identical proteins and their annotated locations for NP_001138595.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter but has the identical N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC006325, AK293478, DB039499
    Consensus CDS
    CCDS47570.1
    UniProtKB/Swiss-Prot
    O96001
    Related
    ENSP00000386459.3, ENST00000409146.3

  2. NM_006658.5 → NP_006649.2  protein phosphatase 1 regulatory subunit 17 isoform 1

    See identical proteins and their annotated locations for NP_006649.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006325, DB039499
    Consensus CDS
    CCDS5436.1
    UniProtKB/Swiss-Prot
    O96001, Q9UDQ0
    UniProtKB/TrEMBL
    A0A090N8N7
    Related
    ENSP00000340125.3, ENST00000342032.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    31687215..31708455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515094.3 → XP_011513396.1  protein phosphatase 1 regulatory subunit 17 isoform X1

    See identical proteins and their annotated locations for XP_011513396.1

    UniProtKB/Swiss-Prot
    O96001, Q9UDQ0
    UniProtKB/TrEMBL
    A0A090N8N7

RNA

  1. XR_926912.4 RNA Sequence

  2. XR_007059983.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    31825496..31846753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357140.1 → XP_054213115.1  protein phosphatase 1 regulatory subunit 17 isoform X1

RNA

  1. XR_008487524.1 RNA Sequence

  2. XR_008487525.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O96001.2 GenPept UniProtKB/Swiss-Prot:O96001

Gene LinkOut

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