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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
//

Annotations:

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

by @meso_cacase at DBCLS
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