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

    Gene ID: 10842, updated on 10-Dec-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31687215..31708455)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31825496..31846753)
    RS_2024_09 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 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31505615-31506326 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31506327-31507037 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31517206-31518405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25823 Neighboring gene ITPR interacting domain containing 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31690801-31691359 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31749869-31750495 Neighboring gene phosphodiesterase 1C Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31807284-31808218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25824 Neighboring gene NANOG hESC enhancer GRCh37_chr7:31865149-31865650 Neighboring gene Sharpr-MPRA regulatory region 14950 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31977838-31979037 Neighboring gene sorting nexin 2 pseudogene 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:32202217-32203416 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:32244753-32245952 Neighboring gene MPRA-validated peak6468 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32467257-32468070 Neighboring gene NANOG hESC enhancer GRCh37_chr7:32486745-32487256 Neighboring gene phosphoribosyl pyrophosphate synthetase 2 pseudogene

    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

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    		  
    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 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
      B4DE58, O96001, Q9UDQ0
      UniProtKB/TrEMBL
      A0A090N8N7, B2R7H9
      Related
      ENSP00000340125.3, ENST00000342032.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      B4DE58, O96001, Q9UDQ0
      UniProtKB/TrEMBL
      A0A090N8N7, B2R7H9

    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

      UniProtKB/Swiss-Prot
      B4DE58, O96001, Q9UDQ0
      UniProtKB/TrEMBL
      A0A090N8N7, B2R7H9

    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

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