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2024-04-27 07:15:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001134870 2969 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens protein phosphatase 1, regulatory subunit 18
(PPP1R18), transcript variant 2, mRNA.
ACCESSION NM_001134870 XM_003119436
VERSION NM_001134870.1 GI:199559804
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 2969)
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 2969)
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 2969)
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 2969)
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 2969)
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 2969)
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
DA788428.1, BX647622.1 and BC006176.1.
On Nov 16, 2010 this sequence version replaced gi:310125191.
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 (2) differs in the 5' UTR compared
to variant 1. Variants 1 and 2 encode the same protein.
##Evidence-Data-START##
Transcript exon combination :: BX647622.1, AB073600.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-100 DA788428.1 1-100
101-2839 BX647622.1 1-2739
2840-2969 BC006176.1 1294-1423
FEATURES Location/Qualifiers
source 1..2969
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21.3"
gene 1..2969
/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..203
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/inference="alignment:Splign:1.39.8"
exon 204..1842
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/inference="alignment:Splign:1.39.8"
CDS 232..2073
/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_001128342.1"
/db_xref="GI:199559805"
/db_xref="CCDS:CCDS43444.1"
/db_xref="GeneID:170954"
/db_xref="HGNC:29413"
/db_xref="MIM:610990"
/translation="
MATIPDWKLQLLARRRQEEASVRGREKAERERLSQMPAWKRGLLERRRAKLGLSPGEPSPVLGTVEAGPPDPDESAVLLEAIGPVHQNRFIRQERQQQQQQQQRSEELLAERKPGPLEARERRPSPGEMRDQSPKGRESREERLSPRETRERRLGIGGAQELSLRPLEARDWRQSPGEVGDRSSRLSEAWKWRLSPGETPERSLRLAESREQSPRRKEVESRLSPGESAYQKLGLTEAHKWRPDSRESQEQSLVQLEATEWRLRSGEERQDYSEECGRKEEWPVPGVAPKETAELSETLTREAQGNSSAGVEAAEQRPVEDGERGMKPTEGWKWTLNSGKAREWTPRDIEAQTQKPEPPESAEKLLESPGVEAGEGEAEKEEAGAQGRPLRALQNCCSVPSPLPPEDAGTGGLRQQEEEAVELQPPPPAPLSPPPPAPTAPQPPGDPLMSRLFYGVKAGPGVGAPRRSGHTFTVNPRRSVPPATPATPTSPATVDAAVPGAGKKRYPTAEEILVLGGYLRLSRSCLAKGSPERHHKQLKISFSETALETTYQYPSESSVLEELGPEPEVPSAPNPPAAQPDDEEDEEELLLLQPELQGGLRTKALIVDESCRR
"
misc_feature 313..579
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/note="PP1-regulatory protein, Phostensin N-terminal;
Region: Phostensin_N; pfam13916"
/db_xref="CDD:206087"
misc_feature 391..393
/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 628..630
/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 754..756
/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 814..816
/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 826..828
/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 901..903
/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 1333..1335
/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 1564..1890
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/note="Phostensin PP1-binding and SH3-binding region;
Region: Phostensin; pfam13914"
/db_xref="CDD:206085"
variation 1155
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/replace="c"
/replace="t"
/db_xref="dbSNP:2269706"
exon 1843..2053
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/inference="alignment:Splign:1.39.8"
exon 2054..2953
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/inference="alignment:Splign:1.39.8"
STS 2359..2463
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/standard_name="D6S1376"
/db_xref="UniSTS:153697"
variation 2595
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/replace="c"
/replace="t"
/db_xref="dbSNP:2269707"
STS 2743..2948
/gene="PPP1R18"
/gene_synonym="HKMT1098; KIAA1949"
/standard_name="RH81008"
/db_xref="UniSTS:88485"
ORIGIN
cttagacaaagcggtcgccgcccccgcccggccccctggtctctgtctccgtccctcctcctttgctgcctctttccctcctcctctccctccctcctcccctccctccagtctccggatctccctcggtccctctctcctcctcttcctctctctggacgcccggctcctccgcaccccctcccccgggggtcccgcggccttgctccctaccctcacctcaagacgaccatggccaccatcccagactggaagctacagctgctagcccggcgccggcaggaggaggcgtccgttcgaggccgagagaaagcagaacgggagcgcctgtcccagatgccagcctggaaacgagggctcctggagcgccgccgggccaagcttgggctgtcccctggggagcctagccctgtgctagggactgtagaggctggacctccagacccggatgagtctgcggtccttctggaggccatcgggccagtgcaccagaaccgattcatccggcaggagcggcagcagcagcagcagcaacaacaacggagtgaagagctgctagcagagagaaagcctgggcctctggaggcccgggagcggagacccagccctggggagatgcgggatcagagccccaagggaagagagtcaagagaagagagactaagtccgagggagaccagagagaggaggctggggatagggggagcccaagagttgagcctgaggcctctggaggctcgggactggaggcaaagcccaggagaggtgggagacaggagctcccgactgtcagaggcatggaaatggaggctgagtcctggagaaactccagagcggagtctgagactagcagagtctcgagagcaaagccccaggagaaaagaggtggaaagtagactgagcccaggggaatctgcctaccagaagttgggcctgacagaggcccataaatggagacctgactccagagagtctcaggaacagagtttggtacaactggaggcaacagagtggaggctgaggtcaggagaagaaagacaagactactcggaagaatgtgggagaaaagaagagtggccagttccaggggtagctccaaaagagactgcagagctgtccgagaccctgacaagggaggcccaaggcaacagttccgcaggagtggaggcagcagagcagaggcctgtggaagatggcgagaggggcatgaagccaacagaagggtggaaatggaccctgaactccgggaaggctcgagaatggacacccagggacatagaggctcaaactcagaaaccagaacctccagagtcagcagagaagcttctggaatctcccggtgtggaggctggagaaggggaggctgagaaggaggaggcgggggctcagggcaggcctctgagagccctgcagaactgctgctctgtgccctcccccctcccaccagaggacgctgggactggaggcctgagacagcaggaagaggaagcagtggagctccagcccccaccaccagcccctctgtctcccccacccccagccccaactgccccccaacctcctggggatcccctcatgagccgcctgttctatggggtgaaggcagggccaggggtgggggccccccgccgcagtggacacaccttcaccgtcaacccccggcggtctgtgccccctgcgaccccagccaccccaacctctccagccacagttgatgctgcagtcccgggggctgggaagaagcggtacccaactgccgaggagatcttggttctggggggctacctccgtctcagccgcagctgccttgccaaggggtcccccgaaagacaccacaaacagcttaagatctccttcagcgagacagccctggagaccacgtaccaatacccctccgagagttcggtactggaggagctgggcccggagcctgaggtccccagtgcccccaaccctccagcagcccaacccgacgacgaagaggatgaggaagagctgctgctgctgcagccagagctccagggcgggctgcgcaccaaggccctgattgtggatgagtcctgccggcggtgaccatcttccaacatagggatatacctccctccttcttataactgaagatcctggagcccggaagattcagggcagacagaccctgataatgagcctggcagggaagggcaaccaacatcttgtaacttgctttccccaccctgtttctgggggcagagccaattgcccaatttctaccctaatccaaagtccctggtgtgggtggggttaaacgtgctggtgcatcctaggtcatccaagagtgagcgccaagtcctgagaaggggcacagaactccctggagggtggagatggagcacctgccccccatggcagggtacactctccccacagccttcctccccaccatcccgtggggactctcgggatttaagcactcgtctctctgggaggcccagaccccactccatttataggcacatctccttcatttcctaggtcactgcccctttgtttacagctcctgcctcctcccttgaccacagcctggtttacaaattccatcagctcccagccccacctgccaaagtcccaggtttacaagccacgcttacttgctgtgtctgcgtggaattctctcctctgtcccctccagtctcctcattggagtgacctgaaggtgtggcttcctccactttttctcagtattactttgccttagttttccccaagagggaaggctggaactcttaactctgtaccccttgatagttatttaattctgtttctcctagtggttcacaattgaactgaattgagatggtgtcgggtggctaaggagacacctcacctctccttccccattgtgccgcctttatcaattgcctgttttgttttgtttgttttttaactttccataataaaatggagttctcttcaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
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