2024-03-28 22:58:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_133471 4615 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 1, mRNA. ACCESSION NM_133471 XM_929867 XM_936086 XM_936160 XM_936203 XM_941654 VERSION NM_133471.3 GI:213417747 KEYWORDS RefSeq. 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 4615) AUTHORS Lin,Y.S., Huang,K.Y., Wang,T.F., Huang,H.L., Yu,H.C., Yen,J.Y., Hung,S.H., Liu,S.Q., Lai,N.S. and Huang,H.B. TITLE Immunolocalization of phostensin in lymphatic cells and tissues JOURNAL J. Histochem. Cytochem. 59 (8), 741-749 (2011) PUBMED 21804078 REMARK GeneRIF: phostensin is a ubiquitous protein in leukocytes, and it may play an important role in modulating the cellular functions of leukocytes. REFERENCE 2 (bases 1 to 4615) AUTHORS Lai,N.S., Wang,T.F., Wang,S.L., Chen,C.Y., Yen,J.Y., Huang,H.L., Li,C., Huang,K.Y., Liu,S.Q., Lin,T.H. and Huang,H.B. TITLE Phostensin caps to the pointed end of actin filaments and modulates actin dynamics JOURNAL Biochem. Biophys. Res. Commun. 387 (4), 676-681 (2009) PUBMED 19622346 REMARK GeneRIF: phostensin is an actin filament pointed end-capping protein that is capable of modulating actin dynamics. REFERENCE 3 (bases 1 to 4615) AUTHORS Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A., Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A., Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G., Harley,J.B., Gaffney,P.M. and Criswell,L.A. TITLE High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions JOURNAL PLoS Genet. 5 (10), E1000696 (2009) PUBMED 19851445 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 4615) AUTHORS Kao,S.C., Chen,C.Y., Wang,S.L., Yang,J.J., Hung,W.C., Chen,Y.C., Lai,N.S., Liu,H.T., Huang,H.L., Chen,H.C., Lin,T.H. and Huang,H.B. TITLE Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit JOURNAL Biochem. Biophys. Res. Commun. 356 (3), 594-598 (2007) PUBMED 17374523 REMARK GeneRIF: our data shows that phostensin targets PP1 to F-actin cytoskeleton. REFERENCE 5 (bases 1 to 4615) AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E., Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P. TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004) PUBMED 15302935 REFERENCE 6 (bases 1 to 4615) AUTHORS Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y., Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y., Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N. and Nakagawara,A. TITLE Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas JOURNAL Oncogene 23 (35), 5901-5911 (2004) PUBMED 15221005 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK124880.1, DB278980.1, AB075829.1 and BC006176.1. On Nov 19, 2008 this sequence version replaced gi:199559786. Summary: Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]. Transcript Variant: This variant (1) represents a longer transcript. Variants 1 and 2 encode the same protein. ##Evidence-Data-START## Transcript exon combination :: AK124880.1, AB075829.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-298 AK124880.1 1-298 299-563 DB278980.1 252-516 564-1141 AK124880.1 564-1141 1142-4597 AB075829.1 560-4015 4598-4615 BC006176.1 1406-1423 FEATURES Location/Qualifiers source 1..4615 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..4615 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /note="protein phosphatase 1, regulatory subunit 18" /db_xref="GeneID:170954" /db_xref="HGNC:29413" /db_xref="MIM:610990" exon 1..3488 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /inference="alignment:Splign:1.39.8" misc_feature 1728..1730 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /note="upstream in-frame stop codon" CDS 1878..3719 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /note="protein phosphatase 1 regulatory subunit 18; protein phosphatase 1 F-actin cytoskeleton targeting subunit" /codon_start=1 /product="phostensin" /protein_id="NP_597728.1" /db_xref="GI:145386517" /db_xref="CCDS:CCDS43444.1" /db_xref="GeneID:170954" /db_xref="HGNC:29413" /db_xref="MIM:610990" /translation="
MATIPDWKLQLLARRRQEEASVRGREKAERERLSQMPAWKRGLLERRRAKLGLSPGEPSPVLGTVEAGPPDPDESAVLLEAIGPVHQNRFIRQERQQQQQQQQRSEELLAERKPGPLEARERRPSPGEMRDQSPKGRESREERLSPRETRERRLGIGGAQELSLRPLEARDWRQSPGEVGDRSSRLSEAWKWRLSPGETPERSLRLAESREQSPRRKEVESRLSPGESAYQKLGLTEAHKWRPDSRESQEQSLVQLEATEWRLRSGEERQDYSEECGRKEEWPVPGVAPKETAELSETLTREAQGNSSAGVEAAEQRPVEDGERGMKPTEGWKWTLNSGKAREWTPRDIEAQTQKPEPPESAEKLLESPGVEAGEGEAEKEEAGAQGRPLRALQNCCSVPSPLPPEDAGTGGLRQQEEEAVELQPPPPAPLSPPPPAPTAPQPPGDPLMSRLFYGVKAGPGVGAPRRSGHTFTVNPRRSVPPATPATPTSPATVDAAVPGAGKKRYPTAEEILVLGGYLRLSRSCLAKGSPERHHKQLKISFSETALETTYQYPSESSVLEELGPEPEVPSAPNPPAAQPDDEEDEEELLLLQPELQGGLRTKALIVDESCRR
" misc_feature 1959..2225 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /note="PP1-regulatory protein, Phostensin N-terminal; Region: Phostensin_N; pfam13916" /db_xref="CDD:206087" misc_feature 2037..2039 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 2250..2252 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2274..2276 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 2274..2276 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2310..2312 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2400..2402 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 2460..2462 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 2472..2474 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 2547..2549 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 2670..2672 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2979..2981 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q6NYC8.1); phosphorylation site" misc_feature 3210..3536 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /note="Phostensin PP1-binding and SH3-binding region; Region: Phostensin; pfam13914" /db_xref="CDD:206085" variation 2801 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /replace="c" /replace="t" /db_xref="dbSNP:2269706" exon 3489..3699 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /inference="alignment:Splign:1.39.8" exon 3700..4599 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /inference="alignment:Splign:1.39.8" STS 4005..4109 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /standard_name="D6S1376" /db_xref="UniSTS:153697" variation 4241 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /replace="c" /replace="t" /db_xref="dbSNP:2269707" STS 4389..4594 /gene="PPP1R18" /gene_synonym="HKMT1098; KIAA1949" /standard_name="RH81008" /db_xref="UniSTS:88485" ORIGIN
actttgccagagcggccgggtccccattcccattccttcaaatcccctttttcccggcagccgacctgtagacccaagggagacaggttgaagctagaaagagtcggggcagcagctctggtaggggagggagcatccaaaacctctggcttctgagcgcctctcctgccgcccatccacaaagccccccacagcctggcggctgccctcgaccccgcaaaacaaaggacttcagaggctggacctacagacccagatgagaaggcaaaagcgtagggaggagcggcaggagatgggaagggcgggccccgctcggagcagctgccgcttcctcccaaagtcccacgaggggcctgagtcacgggccaccgccctgggtcggcgagctgggggaagggatctggacacctggcgtgtccgggcgggaagctggtgagggcccctggggacagagcggaggaccagtggttggggcgagaagagggcagtcccgcagcgagtcccacgcggggtgggagggatctaggccccgccctctcctcggctccgccctgcgcccccttccctctcctcattgtccttagacaaagcggtcgccgcccccgcccggccccctggtctctgtctccgtccctcctcctttgctgcctctttccctcctcctctccctccctcctcccctccctccagtctccggatctccctcggtccctctctcctcctcttcctctctctggacgcccggctcctccgcaccccctcccccgggggtcccgcggcctgtgagttgactgaggggctcagacttggggagtgggtgtctcctcgcccctgtccttgctcccgtccctggcccggaccttggctgtctcctctttgtgccgagattgtcagtctgtgcggctacagcggggtggagacggccggctctgtcacggcttcatgagagcggggacggggcgcaggacttgcaggcgccggggagaagagacatggagccggcccttggcactctggggtcgcgtggggcagtcggtgggggaggcaggcggtggtgacaggacagggtgggggtggacgccagggttctgggaacgcgctggcagccctgacgcccgggttccgaaagtctcgggggtggctatttcccccgacccgcctcgggggcggagtgcggggcagaggggtgggggctggggagaggcgtggcccgagcggtgctggaagcggagccgggacctttggggcccgcgctgagacgcgcccggctgctgccgccgccctcctttcccctcttccctggtttcccttctcctctagacctgttcgctctccgcccctccttgcctccccaacaccccctcaggtcccgttgcctcctggtcctttcagggattcctggtccttccttcccacactagcctccctggggtatcgctgaggcagcctggcctgcacccaggttcccctcacccctgccacatttctctcttctccctcacgccaactttccttttcgcccttctctctctttctcacatcctagagacggtctttaatacgcattaaccctgtgctgccacatctggctcctgccctcattgcctccaatccggactcttcctctcacatcacccccaccacccccaacttgggctcacaacttctcttcactttttccatttccccagttctctgccttccgtctttccctctgtcctcatccttagcccctctgccctgctttgtgtcccacctctccccctccacttcctctcctcccaccctcagtctcacccccgggctgtctcactctctggagcctctccttcctgttctctgtccccagtgctccctaccctcacctcaagacgaccatggccaccatcccagactggaagctacagctgctagcccggcgccggcaggaggaggcgtccgttcgaggccgagagaaagcagaacgggagcgcctgtcccagatgccagcctggaaacgagggctcctggagcgccgccgggccaagcttgggctgtcccctggggagcctagccctgtgctagggactgtagaggctggacctccagacccggatgagtctgcggtccttctggaggccatcgggccagtgcaccagaaccgattcatccggcaggagcggcagcagcagcagcagcaacaacaacggagtgaagagctgctagcagagagaaagcctgggcctctggaggcccgggagcggagacccagccctggggagatgcgggatcagagccccaagggaagagagtcaagagaagagagactaagtccgagggagaccagagagaggaggctggggatagggggagcccaagagttgagcctgaggcctctggaggctcgggactggaggcaaagcccaggagaggtgggagacaggagctcccgactgtcagaggcatggaaatggaggctgagtcctggagaaactccagagcggagtctgagactagcagagtctcgagagcaaagccccaggagaaaagaggtggaaagtagactgagcccaggggaatctgcctaccagaagttgggcctgacagaggcccataaatggagacctgactccagagagtctcaggaacagagtttggtacaactggaggcaacagagtggaggctgaggtcaggagaagaaagacaagactactcggaagaatgtgggagaaaagaagagtggccagttccaggggtagctccaaaagagactgcagagctgtccgagaccctgacaagggaggcccaaggcaacagttccgcaggagtggaggcagcagagcagaggcctgtggaagatggcgagaggggcatgaagccaacagaagggtggaaatggaccctgaactccgggaaggctcgagaatggacacccagggacatagaggctcaaactcagaaaccagaacctccagagtcagcagagaagcttctggaatctcccggtgtggaggctggagaaggggaggctgagaaggaggaggcgggggctcagggcaggcctctgagagccctgcagaactgctgctctgtgccctcccccctcccaccagaggacgctgggactggaggcctgagacagcaggaagaggaagcagtggagctccagcccccaccaccagcccctctgtctcccccacccccagccccaactgccccccaacctcctggggatcccctcatgagccgcctgttctatggggtgaaggcagggccaggggtgggggccccccgccgcagtggacacaccttcaccgtcaacccccggcggtctgtgccccctgcgaccccagccaccccaacctctccagccacagttgatgctgcagtcccgggggctgggaagaagcggtacccaactgccgaggagatcttggttctggggggctacctccgtctcagccgcagctgccttgccaaggggtcccccgaaagacaccacaaacagcttaagatctccttcagcgagacagccctggagaccacgtaccaatacccctccgagagttcggtactggaggagctgggcccggagcctgaggtccccagtgcccccaaccctccagcagcccaacccgacgacgaagaggatgaggaagagctgctgctgctgcagccagagctccagggcgggctgcgcaccaaggccctgattgtggatgagtcctgccggcggtgaccatcttccaacatagggatatacctccctccttcttataactgaagatcctggagcccggaagattcagggcagacagaccctgataatgagcctggcagggaagggcaaccaacatcttgtaacttgctttccccaccctgtttctgggggcagagccaattgcccaatttctaccctaatccaaagtccctggtgtgggtggggttaaacgtgctggtgcatcctaggtcatccaagagtgagcgccaagtcctgagaaggggcacagaactccctggagggtggagatggagcacctgccccccatggcagggtacactctccccacagccttcctccccaccatcccgtggggactctcgggatttaagcactcgtctctctgggaggcccagaccccactccatttataggcacatctccttcatttcctaggtcactgcccctttgtttacagctcctgcctcctcccttgaccacagcctggtttacaaattccatcagctcccagccccacctgccaaagtcccaggtttacaagccacgcttacttgctgtgtctgcgtggaattctctcctctgtcccctccagtctcctcattggagtgacctgaaggtgtggcttcctccactttttctcagtattactttgccttagttttccccaagagggaaggctggaactcttaactctgtaccccttgatagttatttaattctgtttctcctagtggttcacaattgaactgaattgagatggtgtcgggtggctaaggagacacctcacctctccttccccattgtgccgcctttatcaattgcctgttttgttttgtttgttttttaactttccataataaaatggagttctcttcaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:170954 -> Molecular function: GO:0003779 [actin binding] evidence: IEA GeneID:170954 -> Molecular function: GO:0019902 [phosphatase binding] evidence: IEA GeneID:170954 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA GeneID:170954 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA
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