PPR17_HUMAN
ID PPR17_HUMAN Reviewed; 155 AA.
AC O96001; B4DE58; Q9UDQ0;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Protein phosphatase 1 regulatory subunit 17;
DE AltName: Full=G-substrate;
GN Name=PPP1R17; Synonyms=C7orf16, GSBS;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT VAL-12.
RX PubMed=9920894; DOI=10.1074/jbc.274.6.3485;
RA Hall K.U., Collins S.P., Gamm D.M., Massa E., Depaoli-Roach A.A.,
RA Uhler M.D.;
RT "Phosphorylation-dependent inhibition of protein phosphatase-1 by G-
RT substrate: a Purkinje cell substrate of the cyclic GMP-dependent protein
RT kinase.";
RL J. Biol. Chem. 274:3485-3495(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PHOSPHORYLATION AT THR-68 AND
RP THR-119, AND VARIANT VAL-12.
RC TISSUE=Brain;
RX PubMed=10051666; DOI=10.1073/pnas.96.5.2467;
RA Endo S., Suzuki M., Sumi M., Nairn A.C., Morita R., Yamakawa K.,
RA Greengard P., Ito M.;
RT "Molecular identification of human G-substrate, a possible downstream
RT component of the cGMP-dependent protein kinase cascade in cerebellar
RT Purkinje cells.";
RL Proc. Natl. Acad. Sci. U.S.A. 96:2467-2472(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT VAL-12.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Inhibits phosphatase activities of protein phosphatase 1
CC (PP1) and protein phosphatase 2A (PP2A) complexes. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O96001-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O96001-2; Sequence=VSP_042736;
CC -!- TISSUE SPECIFICITY: Highly expressed in cerebellum.
CC -!- PTM: Substrate for cGMP-dependent protein kinase. Phosphorylated by
CC PRKG1 isoform alpha. Phosphorylation of Thr-68 and Thr-119 is required
CC for its phosphatase activity (By similarity). {ECO:0000250}.
CC -!- PTM: Substrate for cGMP-dependent protein kinase.
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DR EMBL; AF071789; AAD12588.1; -; mRNA.
DR EMBL; AF097730; AAD13030.1; -; mRNA.
DR EMBL; AK293478; BAG56969.1; -; mRNA.
DR EMBL; AC006325; AAF03537.1; -; Genomic_DNA.
DR EMBL; BC028094; AAH28094.1; -; mRNA.
DR CCDS; CCDS47570.1; -. [O96001-2]
DR CCDS; CCDS5436.1; -. [O96001-1]
DR RefSeq; NP_001138595.1; NM_001145123.2. [O96001-2]
DR RefSeq; NP_006649.2; NM_006658.4. [O96001-1]
DR RefSeq; XP_011513396.1; XM_011515094.1. [O96001-1]
DR AlphaFoldDB; O96001; -.
DR BioGRID; 116054; 3.
DR STRING; 9606.ENSP00000340125; -.
DR iPTMnet; O96001; -.
DR PhosphoSitePlus; O96001; -.
DR BioMuta; PPP1R17; -.
DR MassIVE; O96001; -.
DR PaxDb; O96001; -.
DR PeptideAtlas; O96001; -.
DR PRIDE; O96001; -.
DR ProteomicsDB; 51180; -. [O96001-1]
DR Antibodypedia; 26306; 148 antibodies from 15 providers.
DR DNASU; 10842; -.
DR Ensembl; ENST00000342032.8; ENSP00000340125.3; ENSG00000106341.11. [O96001-1]
DR Ensembl; ENST00000409146.3; ENSP00000386459.3; ENSG00000106341.11. [O96001-2]
DR GeneID; 10842; -.
DR KEGG; hsa:10842; -.
DR MANE-Select; ENST00000342032.8; ENSP00000340125.3; NM_006658.5; NP_006649.2.
DR UCSC; uc003tcl.4; human. [O96001-1]
DR CTD; 10842; -.
DR DisGeNET; 10842; -.
DR GeneCards; PPP1R17; -.
DR HGNC; HGNC:16973; PPP1R17.
DR HPA; ENSG00000106341; Tissue enriched (brain).
DR MalaCards; PPP1R17; -.
DR MIM; 604088; gene.
DR neXtProt; NX_O96001; -.
DR OpenTargets; ENSG00000106341; -.
DR PharmGKB; PA134908901; -.
DR VEuPathDB; HostDB:ENSG00000106341; -.
DR eggNOG; ENOG502S50G; Eukaryota.
DR GeneTree; ENSGT00390000005586; -.
DR HOGENOM; CLU_113768_0_0_1; -.
DR InParanoid; O96001; -.
DR OMA; ISMMSTE; -.
DR OrthoDB; 904682at2759; -.
DR PhylomeDB; O96001; -.
DR TreeFam; TF335928; -.
DR PathwayCommons; O96001; -.
DR SignaLink; O96001; -.
DR SIGNOR; O96001; -.
DR BioGRID-ORCS; 10842; 10 hits in 1069 CRISPR screens.
DR GeneWiki; C7orf16; -.
DR GenomeRNAi; 10842; -.
DR Pharos; O96001; Tbio.
DR PRO; PR:O96001; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; O96001; protein.
DR Bgee; ENSG00000106341; Expressed in ganglionic eminence and 87 other tissues.
DR ExpressionAtlas; O96001; baseline and differential.
DR Genevisible; O96001; HS.
DR GO; GO:0004865; F:protein serine/threonine phosphatase inhibitor activity; IBA:GO_Central.
DR GO; GO:0007417; P:central nervous system development; NAS:UniProtKB.
DR GO; GO:0035556; P:intracellular signal transduction; NAS:UniProtKB.
DR GO; GO:0010921; P:regulation of phosphatase activity; ISS:UniProtKB.
DR InterPro; IPR033242; PPP1R17.
DR PANTHER; PTHR15387; PTHR15387; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Protein phosphatase inhibitor;
KW Reference proteome.
FT CHAIN 1..155
FT /note="Protein phosphatase 1 regulatory subunit 17"
FT /id="PRO_0000083869"
FT REGION 41..73
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 68
FT /note="Phosphothreonine; by PKG/PRKG1"
FT /evidence="ECO:0000305|PubMed:10051666"
FT MOD_RES 119
FT /note="Phosphothreonine; by PKG/PRKG1"
FT /evidence="ECO:0000305|PubMed:10051666"
FT VAR_SEQ 28..78
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042736"
FT VARIANT 10
FT /note="L -> R (in dbSNP:rs36047130)"
FT /id="VAR_051025"
FT VARIANT 12
FT /note="L -> V (in dbSNP:rs3735422)"
FT /evidence="ECO:0000269|PubMed:10051666,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9920894"
FT /id="VAR_027838"
SQ SEQUENCE 155 AA; 17866 MW; 20D86A3B7F41AB0F CRC64;
MMSTEQMQPL ELSEDRLDKL DPRCSHLDDL SDQFIKDCDL KKKPRKGKNV QATLNVESDQ
KKPRRKDTPA LHIPPFIPGV FSEHLIKRYD VQERHPKGKM IPVLHNTDLE QKKPRRKDTP
ALHMSPFAAG VTLLRDERPK AIVEDDEKDG DKIAI