2024-03-29 07:23:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001015056 2211 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens rhotekin (RTKN), transcript variant 3, mRNA. ACCESSION NM_001015056 VERSION NM_001015056.1 GI:62739180 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 2211) AUTHORS Pusapati,G.V., Eiseler,T., Rykx,A., Vandoninck,S., Derua,R., Waelkens,E., Van Lint,J., von Wichert,G. and Seufferlein,T. TITLE Protein kinase D regulates RhoA activity via rhotekin phosphorylation JOURNAL J. Biol. Chem. 287 (12), 9473-9483 (2012) PUBMED 22228765 REMARK GeneRIF: Protein kinase D regulates RhoA activity via phosphorylation rhotekin at Ser-435. REFERENCE 2 (bases 1 to 2211) AUTHORS Wang,S., Bian,C., Yang,Z., Bo,Y., Li,J., Zeng,L., Zhou,H. and Zhao,R.C. TITLE miR-145 inhibits breast cancer cell growth through RTKN JOURNAL Int. J. Oncol. 34 (5), 1461-1466 (2009) PUBMED 19360360 REMARK GeneRIF: Loss of miR-145 may provide a selective growth advantage for MCF-7 by targeting RTKN. REFERENCE 3 (bases 1 to 2211) AUTHORS Nagata,K., Ito,H., Iwamoto,I., Morishita,R. and Asano,T. TITLE Interaction of a multi-domain adaptor protein, vinexin, with a Rho-effector, Rhotekin JOURNAL Med Mol Morphol 42 (1), 9-15 (2009) PUBMED 19294487 REMARK GeneRIF: Rhotekin forms a complex with vinexin and may play a role at focal adhesions. REFERENCE 4 (bases 1 to 2211) AUTHORS Wu,X., Kodama,A. and Fuchs,E. TITLE ACF7 regulates cytoskeletal-focal adhesion dynamics and migration and has ATPase activity JOURNAL Cell 135 (1), 137-148 (2008) PUBMED 18854161 REFERENCE 5 (bases 1 to 2211) AUTHORS Sudo,K., Ito,H., Iwamoto,I., Morishita,R., Asano,T. and Nagata,K. TITLE SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling JOURNAL Hum. Mutat. 28 (10), 1005-1013 (2007) PUBMED 17546647 REMARK GeneRIF: SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling REFERENCE 6 (bases 1 to 2211) AUTHORS Katoh,H. and Negishi,M. TITLE RhoG activates Rac1 by direct interaction with the Dock180-binding protein Elmo JOURNAL Nature 424 (6947), 461-464 (2003) PUBMED 12879077 REFERENCE 7 (bases 1 to 2211) AUTHORS Sharfe,N., Freywald,A., Toro,A., Dadi,H. and Roifman,C. TITLE Ephrin stimulation modulates T cell chemotaxis JOURNAL Eur. J. Immunol. 32 (12), 3745-3755 (2002) PUBMED 12516569 REFERENCE 8 (bases 1 to 2211) AUTHORS Reynaud,C., Fabre,S. and Jalinot,P. TITLE The PDZ protein TIP-1 interacts with the Rho effector rhotekin and is involved in Rho signaling to the serum response element JOURNAL J. Biol. Chem. 275 (43), 33962-33968 (2000) PUBMED 10940294 REFERENCE 9 (bases 1 to 2211) AUTHORS Fu,Q., Yu,L., Liu,Q., Zhang,J., Zhang,H. and Zhao,S. TITLE Molecular cloning, expression characterization, and mapping of a novel putative inhibitor of rho GTPase activity, RTKN, to D2S145-D2S286 JOURNAL Genomics 66 (3), 328-332 (2000) PUBMED 10873388 REFERENCE 10 (bases 1 to 2211) AUTHORS Jang,W., Weber,J.S., Harkins,E.B. and Meisler,M.H. TITLE Localization of the rhotekin gene RTKN on the physical maps of mouse chromosome 6 and human chromosome 2p13 and exclusion as a candidate for mnd2 and LGMD2B JOURNAL Genomics 40 (3), 506-507 (1997) PUBMED 9073523 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AW410753.1, BQ721791.1, BC017727.1 and BQ574374.1. Summary: This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (3) differs in the 5' UTR and coding region and uses a downstream start codon, compared to variant 1. The encoded protein (isoform c) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF290512.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-58 AW410753.1 18-75 59-231 BQ721791.1 1-173 232-2171 BC017727.1 271-2210 2172-2211 BQ574374.1 1-40 c FEATURES Location/Qualifiers source 1..2211 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13.1" gene 1..2211 /gene="RTKN" /note="rhotekin" /db_xref="GeneID:6242" /db_xref="HGNC:10466" /db_xref="MIM:602288" exon 1..231 /gene="RTKN" /inference="alignment:Splign:1.39.8" misc_feature 94..96 /gene="RTKN" /note="upstream in-frame stop codon" variation 118 /gene="RTKN" /replace="c" /replace="g" /db_xref="dbSNP:11553073" exon 232..431 /gene="RTKN" /inference="alignment:Splign:1.39.8" CDS 271..1812 /gene="RTKN" /note="isoform c is encoded by transcript variant 3" /codon_start=1 /product="rhotekin isoform c" /protein_id="NP_001015056.1" /db_xref="GI:62739181" /db_xref="CCDS:CCDS42699.1" /db_xref="GeneID:6242" /db_xref="HGNC:10466" /db_xref="MIM:602288" /translation="
MREGACKLLAACSQREQALEATKSLLVCNSRILSYMGELQRRKEAQVLGKTSRRPSDSGPPAERSPCRGRVCISDLRIPLMWKDTEYFKNKGDLHRWAVFLLLQLGEHIQDTEMILVDRTLTDISFQSNVLFAEAGPDFELRLELYGACVEEEGALTGGPKRLATKLSSSLGRSSGRRVRASLDSAGGSGSSPILLPTPVVGGPRYHLLAHTTLTLAAVQDGFRTHDLTLASHEENPAWLPLYGSVCCRLAAQPLCMTQPTASGTLRVQQAGEMQNWAQVHGVLKGTNLFCYRQPEDADTGEEPLLTIAVNKETRVRAGELDQALGRPFTLSISNQYGDDEVTHTLQTESREALQSWMEALWQLFFDMSQWKQCCDEIMKIETPAPRKPPQALAKQGSLYHEMAIEPLDDIAAVTDILTQREGARLETPPPWLAMFTDQPALPNPCSPASVAPAPDWTHPLPWGRPRTFSLDAVPPDHSPRARSVAPLPPQRSPRTRGLCSKGQPRTWLQSPV
" misc_feature <271..393 /gene="RTKN" /note="Rho effector or protein kinase C-related kinase homology region 1 homologues; Region: Hr1; smart00742" /db_xref="CDD:128981" misc_feature 466..768 /gene="RTKN" /note="Cell division protein anillin; Region: Anillin; pfam08174" /db_xref="CDD:203870" misc_feature 1057..1353 /gene="RTKN" /note="Pleckstrin homology (PH) domain; Region: PH; cd00821" /db_xref="CDD:176270" misc_feature order(1057..1077,1102..1122,1129..1149,1186..1200, 1219..1233,1258..1278,1297..1314,1327..1353) /gene="RTKN" /note="core domain; other site" /db_xref="CDD:176270" misc_feature order(1072..1074,1102..1104,1108..1116) /gene="RTKN" /note="putative lipid binding motif; other site" /db_xref="CDD:176270" exon 432..493 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 494..547 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 548..665 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 666..875 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 876..970 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 971..1077 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 1078..1206 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 1207..1375 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 1376..1480 /gene="RTKN" /inference="alignment:Splign:1.39.8" exon 1481..2194 /gene="RTKN" /inference="alignment:Splign:1.39.8" STS 1966..2141 /gene="RTKN" /standard_name="A005N24" /db_xref="UniSTS:44994" STS 2051..2175 /gene="RTKN" /standard_name="WI-14006" /db_xref="UniSTS:53382" variation 2127 /gene="RTKN" /replace="a" /replace="c" /db_xref="dbSNP:1048376" polyA_signal 2153..2158 /gene="RTKN" polyA_site 2171 /gene="RTKN" /experiment="experimental evidence, no additional details recorded" polyA_site 2193 /gene="RTKN" ORIGIN
gggacagctcggaggagctggggcggagccgcagggcctggcggccgccgagtgaagtgtgactccgtgggcctggcgtggaggcgggggcgctaggctgcagctggctcggaatcggggctggtttcctgtctggaagggaaggggcctgcagaagggagcggggacagcagcagacaggcacacccctgccttcctctctccctctcctcccttctctggaaaagcgaggacacggagttgcagaggaagctagaccatgagatccggatgagggaaggggcctgtaagctgctggcagcctgctcccagcgagagcaggctctggaggccaccaagagcctgctagtgtgcaacagccgcatcctcagctacatgggcgagctgcagcggcgcaaggaggcgcaggtgctggggaagacaagccggcggccttctgacagtggcccgcccgctgagcgctccccctgccgcggccgggtctgcatctctgacctccggattccactcatgtggaaggacacagaatatttcaagaacaaaggtgacttgcaccgctgggctgtgttcctgctgctgcagctgggggaacacatccaggacacagagatgatcctagtggacaggaccctcacagacatctcctttcagagcaatgtgctcttcgctgaggcggggccagactttgaactgcggttagagctgtatggggcctgtgtggaagaagagggggccctgactggcggccccaagaggcttgccaccaaactcagcagctccctgggccgctcctcagggaggcgtgtccgggcatcgctggacagtgctgggggttcagggagcagtcccatcttgctccccaccccagttgttggtggtcctcgttaccacctcttggctcacaccacactcaccctggcagcagtgcaagatggattccgcacacatgacctcacccttgccagtcatgaggagaaccctgcctggctgcccctttatggtagcgtgtgttgccgtctggcagctcagcctctctgcatgactcagcccactgcaagtggtaccctcagggtgcagcaagctggggagatgcagaactgggcacaagtgcatggagttctgaaaggcacaaacctcttctgttaccggcaacctgaggatgcagacactggggaagagccgctgcttactattgctgtcaacaaggagactcgagtccgggcaggggagctggaccaggctctaggacggcccttcaccctaagcatcagtaaccagtatggggatgatgaggtgacacacacccttcagacagaaagtcgggaagcactgcagagctggatggaggctctgtggcagcttttctttgacatgagccaatggaagcagtgctgtgatgaaatcatgaaaattgaaactcctgctccccggaaaccaccccaagcactggcaaagcaggggtccttgtaccatgagatggctattgagccgctggatgacatcgcagcggtgacagacatcctgacccagcgggagggcgcaaggctggagacacccccaccctggctggcaatgtttacagaccagcctgccctgcctaacccctgctcgcctgcctcagtggccccagccccagactggacccaccccctgccctgggggagaccccgaaccttttccctggatgctgtccccccagaccactcccctagggctcgctcggttgcccccctcccacctcagcgatccccacggaccagaggcctctgcagcaaaggccaacctcgcacttggctccagtcaccagtgtgagagagaaaggtgctggcataggatctgcccagaagagaaaatgacccatgcgcagttgggctctggatacggcgctgtctatagcaagttggccagtctggcctcctgttcctctgctggacctggggtaggctgcaggggtgggcagaagcccctcttaaattgtggttgccatggtaccgagggactcattcctggggctcgctgggacctccctaaacccttcctggaagaaaactggaaccaactctgccctacctccctgcactaaccagctttgaggatggcactgaagaacccttggagcaaacatacctcccttgtgactcccacatcaaccattaaagttatttaacagcagccttcacctggctcctgaggaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:6242 -> Molecular function: GO:0005095 [GTPase inhibitor activity] evidence: IDA GeneID:6242 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:6242 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA GeneID:6242 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IEA GeneID:6242 -> Molecular function: GO:0017049 [GTP-Rho binding] evidence: IDA GeneID:6242 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:6242 -> Biological process: GO:0007165 [signal transduction] evidence: IDA GeneID:6242 -> Biological process: GO:0007266 [Rho protein signal transduction] evidence: IDA GeneID:6242 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
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