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

Gene ID: 10842, updated on 25-Jan-2020

Summary

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
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

Genomic context

See PPP1R17 in Genome Data Viewer
Location:
7p14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (31687017..31710158)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31726631..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 sorting nexin 2 pseudogene 2 Neighboring gene phosphoribosyl pyrophosphate synthetase 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein serine/threonine phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
central nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001145123.2NP_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, DA061079, DB039499
    Consensus CDS
    CCDS47570.1
    UniProtKB/Swiss-Prot
    O96001
    Related
    ENSP00000386459.3, ENST00000409146.3
  2. NM_006658.5NP_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
    UniProtKB/TrEMBL
    A0A090N8N7
    Related
    ENSP00000340125.3, ENST00000342032.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    31687017..31710158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515094.2XP_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
    UniProtKB/TrEMBL
    A0A090N8N7

RNA

  1. XR_926912.3 RNA Sequence

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