LOCUS       NM_006658               1768 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens protein phosphatase 1 regulatory subunit 17 (PPP1R17),
            transcript variant 1, mRNA.
ACCESSION   NM_006658
VERSION     NM_006658.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1768)
  AUTHORS   Endo,S.
  TITLE     G-substrate: the cerebellum and beyond
  JOURNAL   Prog Mol Biol Transl Sci 106, 381-416 (2012)
   PUBMED   22340725
  REMARK    GeneRIF: 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.
            Review article
REFERENCE   2  (bases 1 to 1768)
  AUTHORS   Ono,S., Ezura,Y., Emi,M., Fujita,Y., Takada,D., Sato,K.,
            Ishigami,T., Umemura,S., Takahashi,K., Kamimura,K., Bujo,H. and
            Saito,Y.
  TITLE     A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates
            with hypercholesterolemia
  JOURNAL   J Hum Genet 48 (9), 447-450 (2003)
   PUBMED   12955585
  REMARK    GeneRIF: Single nucleotide polymorphism in the GSBS gene is
            associated with hypercholesterolemia
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1768)
  AUTHORS   Endo,S., Suzuki,M., Sumi,M., Nairn,A.C., Morita,R., Yamakawa,K.,
            Greengard,P. and Ito,M.
  TITLE     Molecular identification of human G-substrate, a possible
            downstream component of the cGMP-dependent protein kinase cascade
            in cerebellar Purkinje cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (5), 2467-2472 (1999)
   PUBMED   10051666
REFERENCE   4  (bases 1 to 1768)
  AUTHORS   Hall,K.U., Collins,S.P., Gamm,D.M., Massa,E., DePaoli-Roach,A.A.
            and Uhler,M.D.
  TITLE     Phosphorylation-dependent inhibition of protein phosphatase-1 by
            G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent
            protein kinase
  JOURNAL   J Biol Chem 274 (6), 3485-3495 (1999)
   PUBMED   9920894
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB039499.1 and AC006325.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006658.4.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1170737.1,
                                           SRR3476690.762842.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342032.8/ ENSP00000340125.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-540               DB039499.1         31-570
            541-1768            AC006325.3         40102-41329
FEATURES             Location/Qualifiers
     source          1..1768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..1768
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /note="protein phosphatase 1 regulatory subunit 17"
                     /db_xref="GeneID:10842"
                     /db_xref="HGNC:HGNC:16973"
                     /db_xref="MIM:604088"
     exon            1..92
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /inference="alignment:Splign:2.1.0"
     exon            93..210
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..596
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     G-substrate"
                     /codon_start=1
                     /product="protein phosphatase 1 regulatory subunit 17
                     isoform 1"
                     /protein_id="NP_006649.2"
                     /db_xref="CCDS:CCDS5436.1"
                     /db_xref="GeneID:10842"
                     /db_xref="HGNC:HGNC:16973"
                     /db_xref="MIM:604088"
                     /translation="MMSTEQMQPLELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKP
                     RKGKNVQATLNVESDQKKPRRKDTPALHIPPFIPGVFSEHLIKRYDVQERHPKGKMIP
                     VLHNTDLEQKKPRRKDTPALHMSPFAAGVTLLRDERPKAIVEDDEKDGDKIAI"
     exon            211..363
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /inference="alignment:Splign:2.1.0"
     exon            364..516
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /inference="alignment:Splign:2.1.0"
     exon            517..1768
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1749..1754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /note="hexamer: AATAAA"
     polyA_site      1768
                     /gene="PPP1R17"
                     /gene_synonym="C7orf16; GSBS"
                     /note="major polyA site"
ORIGIN      
        1 agccactgcc gcagaggagc caggcccagc ctcggtgagc acacacgccc tccctgtctc
       61 tcgccttcgc ttccctgcat ctgcgctgat tgtgctggag aagaaataca tccacccacc
      121 ctcctttgat gatgtccact gagcaaatgc agccactgga actctcagaa gacagactgg
      181 acaagctaga ccctcgttgc agccacttag atgatctttc agaccagttc attaaggact
      241 gtgatctcaa aaagaagcct agaaagggaa aaaatgtaca ggccaccctg aatgttgagt
      301 cagaccaaaa aaaaccaagg aggaaagata caccggcgct gcacatccca cctttcatac
      361 caggtgtgtt ttcagaacat ttaattaaaa gatacgatgt tcaagagaga catccaaagg
      421 gcaaaatgat ccctgttctt cataacactg acctggaaca gaaaaagcca aggagaaaag
      481 acacacctgc cctgcacatg tccccctttg cagcaggtgt gacattgctc agggacgaga
      541 gacccaaagc aatcgtggaa gatgacgaaa aggatggtga caagatagct atttaaagat
      601 agttcccctg agaccacttg taaataggtt agattggttc cctgtggtga cctagagaaa
      661 aaatagactt gtttctgctc tcatttttgt catcgtctga cttgaagatt cagacacctt
      721 ctccccagga gatgtatgcc atcaaattgc cagtcacctc tttgtctctc tcttctttct
      781 gagtatggtt tctattctgt gttttgaatt tttattttct aatgcagtgg aaaagaaaca
      841 gatcatccta aatgaggagg taacagggaa agcactgggg ttcggtttct gcatcttctg
      901 gatcaattca cggaacagag atcgtggatt acatgggctc cttcttggtt tttgctgctg
      961 ggcaggactt gacttagcat tatccaagca ccagtccaag tggggttccc tgttgccagt
     1021 tagagaggtg agaatgtttg gactctaact caccgattgc tttgcagaca aaggtctttt
     1081 atttctcctg tcctatctta agagtccaaa tgtctctggt gatgttccta agacccttgt
     1141 cccagatact ctaaatgtga atgtatgagc tgggggagtc aacccagccc accatgcctt
     1201 ggctgatgat accagaggca gagagtgctg gtctgtctgg gaagcttagc aatgtatctt
     1261 caaatttatt tttgttttta aaaatatttc ttaaacatgc tgtcccaaca tttgtgagtt
     1321 gtgtcacaag tgagtcatta tcaatggtag ataaaatatc aatgtttgtg atgaatttac
     1381 tgtaaaaaaa ttaaggtcaa tgaaagccat tctgttattt ttagcattct cacttattta
     1441 gactctatta cactttcttg gatgagaggg gagagtgtgg tgttagctag tgagcagagg
     1501 tctgtatatt gtccttgccc cagcctgcaa tctgtggatg cccaggggaa ggcatacagg
     1561 cctcatccac caggcaatag acaggagaga ggtgagaact atttttagaa ggaggaaaag
     1621 tagatacgca aattgtcaca actaagagtg ataatttggt agctctgtat gtatgctggt
     1681 tccaactgtt taatcccttc tgtctttctg ttctcacaaa gatggaaaag atacaagagc
     1741 ttgccggaaa taaagctaca tctatcca
//
