LOCUS       NM_001384598            2969 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens pleckstrin homology and RhoGEF domain containing G6
            (PLEKHG6), transcript variant 5, mRNA.
ACCESSION   NM_001384598 XM_005253704
VERSION     NM_001384598.1
KEYWORDS    RefSeq; MANE Select.
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   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2969)
  AUTHORS   Ke,J., Tian,J., Mei,S., Ying,P., Yang,N., Wang,X., Zou,D., Peng,X.,
            Yang,Y., Zhu,Y., Gong,Y., Wang,Z., Gong,J., Zhong,R., Chang,J. and
            Miao,X.
  TITLE     Genetic Predisposition to Colon and Rectal Adenocarcinoma Is
            Mediated by a Super-enhancer Polymorphism Coactivating CD9 and
            PLEKHG6
  JOURNAL   Cancer Epidemiol Biomarkers Prev 29 (4), 850-859 (2020)
   PUBMED   31988071
  REMARK    GeneRIF: Genetic Predisposition to Colon and Rectal Adenocarcinoma
            Is Mediated by a Super-enhancer Polymorphism Coactivating CD9 and
            PLEKHG6.
REFERENCE   3  (bases 1 to 2969)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2969)
  AUTHORS   O'Neill,A.C., Kyrousi,C., Klaus,J., Leventer,R.J., Kirk,E.P.,
            Fry,A., Pilz,D.T., Morgan,T., Jenkins,Z.A., Drukker,M.,
            Berkovic,S.F., Scheffer,I.E., Guerrini,R., Markie,D.M., Gotz,M.,
            Cappello,S. and Robertson,S.P.
  TITLE     A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and
            Neuronal Migration
  JOURNAL   Cell Rep 25 (10), 2729-2741 (2018)
   PUBMED   30517861
  REMARK    GeneRIF: PLEKHG6 isoform is an example of a primate-specific
            genomic element supporting brain development.
REFERENCE   5  (bases 1 to 2969)
  AUTHORS   Jiao,M., Wu,D. and Wei,Q.
  TITLE     Myosin II-interacting guanine nucleotide exchange factor promotes
            bleb retraction via stimulating cortex reassembly at the bleb
            membrane
  JOURNAL   Mol Biol Cell 29 (5), 643-656 (2018)
   PUBMED   29321250
  REMARK    GeneRIF: Ezrin interacts with MYOGEF and recruits it to retracting
            blebs, where MYOGEF activates RhoA and promotes the reassembly of
            the cortical actomyosin network at the bleb membrane, thus
            contributing to the regulation of bleb retraction.
REFERENCE   6  (bases 1 to 2969)
  AUTHORS   Wu,D., Asiedu,M. and Wei,Q.
  TITLE     Myosin-interacting guanine exchange factor (MyoGEF) regulates the
            invasion activity of MDA-MB-231 breast cancer cells through
            activation of RhoA and RhoC
  JOURNAL   Oncogene 28 (22), 2219-2230 (2009)
   PUBMED   19421144
  REMARK    GeneRIF: MyoGEF cooperates with nonmuscle myosin IIA to regulate
            the polarity and invasion activity of breast cancer cells through
            activation of RhoA and RhoC.
REFERENCE   7  (bases 1 to 2969)
  AUTHORS   Asiedu,M., Wu,D., Matsumura,F. and Wei,Q.
  TITLE     Centrosome/spindle pole-associated protein regulates cytokinesis
            via promoting the recruitment of MyoGEF to the central spindle
  JOURNAL   Mol Biol Cell 20 (5), 1428-1440 (2009)
   PUBMED   19129481
REFERENCE   8  (bases 1 to 2969)
  AUTHORS   Asiedu,M., Wu,D., Matsumura,F. and Wei,Q.
  TITLE     Phosphorylation of MyoGEF on Thr-574 by Plk1 promotes MyoGEF
            localization to the central spindle
  JOURNAL   J Biol Chem 283 (42), 28392-28400 (2008)
   PUBMED   18694934
  REMARK    GeneRIF: Plk1 can regulate MyoGEF activity and localization,
            contributing to the regulation of cytokinesis
REFERENCE   9  (bases 1 to 2969)
  AUTHORS   D'Angelo,R., Aresta,S., Blangy,A., Del Maestro,L., Louvard,D. and
            Arpin,M.
  TITLE     Interaction of ezrin with the novel guanine nucleotide exchange
            factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton
            rearrangements in epithelial cells
  JOURNAL   Mol Biol Cell 18 (12), 4780-4793 (2007)
   PUBMED   17881735
  REMARK    GeneRIF: ezrin allows the local activation of RhoG at the apical
            pole of epithelial cells by recruiting upstream and downstream
            regulators of RhoG and that both PLEKHG6 and ezrin are required for
            efficient macropinocytosis
REFERENCE   10 (bases 1 to 2969)
  AUTHORS   Wu,D., Asiedu,M., Adelstein,R.S. and Wei,Q.
  TITLE     A novel guanine nucleotide exchange factor MyoGEF is required for
            cytokinesis
  JOURNAL   Cell Cycle 5 (11), 1234-1239 (2006)
   PUBMED   16721066
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006057.5.
            
            On Jun 22, 2020 this sequence version replaced XM_005253704.4.
            
            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 :: SRR14038191.3186730.1,
                                           SRR11853565.6208.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684764.1/ ENSP00000506982.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-167               AC006057.5         54196-54362         c
            168-373             AC006057.5         52680-52885         c
            374-529             AC006057.5         51260-51415         c
            530-694             AC006057.5         49875-50039         c
            695-790             AC006057.5         49395-49490         c
            791-841             AC006057.5         49125-49175         c
            842-991             AC006057.5         48640-48789         c
            992-1102            AC006057.5         47631-47741         c
            1103-1252           AC006057.5         47348-47497         c
            1253-1390           AC006057.5         47050-47187         c
            1391-1510           AC006057.5         46624-46743         c
            1511-1643           AC006057.5         46167-46299         c
            1644-1759           AC006057.5         45936-46051         c
            1760-1905           AC006057.5         38471-38616         c
            1906-2598           AC006057.5         37098-37790         c
            2599-2969           AC006057.5         36538-36908         c
FEATURES             Location/Qualifiers
     source          1..2969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2969
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /note="pleckstrin homology and RhoGEF domain containing
                     G6"
                     /db_xref="GeneID:55200"
                     /db_xref="HGNC:HGNC:25562"
                     /db_xref="MIM:611743"
     exon            1..167
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            168..373
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..2608
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /note="isoform a is encoded by transcript variant 5;
                     myosin interacting guanine nucleotide exchange factor;
                     pleckstrin homology domain-containing family G member 6;
                     PH domain-containing family G member 6; myosin II
                     interacting GEF; pleckstrin homology domain containing,
                     family G (with RhoGef domain) member 6"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family G
                     member 6 isoform a"
                     /protein_id="NP_001371527.1"
                     /db_xref="CCDS:CCDS8541.1"
                     /db_xref="GeneID:55200"
                     /db_xref="HGNC:HGNC:25562"
                     /db_xref="MIM:611743"
                     /translation="MKAFGPPHEGPLQGLVASRIETYGGRHRASAQSTAGRLYPRGYP
                     VLDPSRRRLQQYVPFARGSGQARGLSPMRLRDPEPEKRHGGHVGAGLLHSPKLKELTK
                     AHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELC
                     HQQEALWELLTTELIYVRKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRT
                     HRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRVKQTMAYARE
                     QQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQE
                     ALNAMIEAVESFLRHINGQVRQGEEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFST
                     LDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKADKAK
                     VIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQ
                     AALQKLKAEEYVQQKRELLTLYRDQDRESPSTRPSTPSLEGSQSSAEGRTPEFSTIIP
                     HLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTL
                     ELRDIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVV
                     ETLHRARLRGQLPSSPTHADSAGESPWESSGEEEEEGPLFLKAGHTSLRPMRAEDMLR
                     EIREELASQRIEGAEEPRDSRPRKLTRAQLQRMRGPHIIQLDTPLSASEV"
     exon            374..529
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            530..694
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            695..790
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            791..841
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            842..991
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1102
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1252
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1390
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1510
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1643
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1759
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..1905
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..2598
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     exon            2599..2969
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2925..2930
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /note="hexamer: AATATA"
     polyA_site      2969
                     /gene="PLEKHG6"
                     /gene_synonym="ARHGEF46; MyoGEF"
                     /note="major polyA site"
ORIGIN      
        1 ctcctcgccc ggacccgcgc tgcccggctc ccgcgggccg ctcgatccca gtcccaggct
       61 gggcatcggg gctggctggc atcgccgggg agccgacggc gacggggagc cccgcgggcg
      121 gggagggcgg cgcagggcag cgggtgcggt gacacctgtg ggcacagccc taggggacct
      181 ctttctcctg gacattgaag atatggccct ttggaggtga cccaggagag aagggatgaa
      241 ggcctttggt cctccacatg agggccccct ccaaggactc gtggcctccc gcattgagac
      301 ttatgggggc cggcatcgag cctctgctca gagcactgct ggcagactct atccccgagg
      361 ataccctgtg ctggatccca gtcgccgacg cctccagcag tatgtcccct ttgccagggg
      421 ttctggccag gcccgaggcc tgtcacccat gagactgcga gatccagagc ccgagaagag
      481 gcacgggggc catgtggggg ctggcctgct tcactccccc aaactcaagg aactcaccaa
      541 ggcccatgag ctggaggtga ggctgcacac tttcagcatg tttgggatgc cccggctgcc
      601 ccctgaggac cggcggcact gggagatagg agagggtggc gacagtggcc tgaccatcga
      661 gaagtcctgg agggagctgg tgcctgggca caaggagatg agccaggagc tctgccacca
      721 acaggaggcc ctgtgggagc tcctgaccac cgagctgatc tacgtgagaa agctcaagat
      781 catgactgat ctgctagccg ccggcctgct gaacctgcag cgagtgggac tgctgatgga
      841 agtgtcagct gagaccctgt ttggaaatgt ccccagcctg attcgaaccc accggagctt
      901 ttgggatgag gtgctggggc ccaccctgga ggagactcgg gcctcgggcc agcctctgga
      961 ccccattggt ctgcaaagtg gcttcctgac gtttggccag cggttccacc cctatgtcca
     1021 gtactgcctc cgagtgaagc agaccatggc ttacgcccga gaacagcaag aaactaaccc
     1081 tctcttccat gccttcgtgc agtggtgtga gaagcacaag cgctctggga ggcagatgct
     1141 ctgtgacttg cttatcaagc cccaccagcg catcaccaag tacccactgc tgctccatgc
     1201 tgtgctcaag aggagccccg aggcacgagc ccaagaggcc ctgaatgcca tgattgaagc
     1261 cgtggagtca ttcctgcgac acatcaatgg gcaggtccgc cagggcgaag agcaagagag
     1321 cttggcggct gcagcacaac gcatcgggcc ctacgaggtg ctggagccac ccagtgatga
     1381 ggtggagaag aacctgcgcc cattctccac cctggacctg acgtccccca tgctgggggt
     1441 tgcatctgag cacaccagac agctgctgct ggaggggcct gtgcgagtga aggagggacg
     1501 agaagggaag ctggacgtgt acctgttcct cttctctgat gtgctccttg tgaccaagcc
     1561 ccagcgcaag gcggacaaag ccaaggtcat ccgaccccct ctcatgctgg agaagctcgt
     1621 gtgccaaccc ctgcgagacc ccaacagctt cctgctgatc cacctcactg aattccagtg
     1681 tgtctccagc gccctccttg tgcactgtcc cagtcctaca gaccgtgccc agtggctgga
     1741 gaagacccag caggcccagg ccgccctaca gaagctgaag gcagaggagt atgttcaaca
     1801 gaagagggag ctcctgaccc tctatcggga ccaggacagg gagtccccca gcaccaggcc
     1861 ctccacgcct tccctggagg gctctcagag cagcgcagag gggaggactc ctgagttctc
     1921 gaccattatc ccccacctgg tggtgacaga agacacagat gaagatgctc cccttgtgcc
     1981 agatgatacc tcagactctg gctacggcac tttgatccca ggcaccccca cggggtcccg
     2041 ctccccactg agccgtctac gccaaagagc ccttcggcgg gaccctcgcc tcaccttctc
     2101 caccctggaa ctccgggaca tccctctgcg tccccaccct cccgaccccc aagctcctca
     2161 acgccgaagc gcccccgaac tgccggaagg aatcctaaaa ggaggcagtc ttccccagga
     2221 agacccacca acctggtctg aggaagaaga tggggcctcc gagcgaggga atgtggtggt
     2281 ggaaacactc cacagggccc ggcttcgggg ccagcttccc tcctccccaa cccatgctga
     2341 ctctgccggg gaaagcccct gggagtcctc aggggaggag gaagaagagg ggcctctgtt
     2401 cctgaaagct ggccacacat ccctgcgccc aatgcgggct gaggacatgc tcagagagat
     2461 ccgggaggag ctggccagcc aaaggattga gggggccgag gagccccggg acagcaggcc
     2521 acggaagctg actcgggccc agctgcagag gatgcggggg ccccacatca ttcagctgga
     2581 cacccctctg tccgcatcag aggtatgagg aatgcagagg acctttggca tgcatctctc
     2641 ccagaggaga tctctcccca gtagtgctgg tcaccctccg gcatctgtga ctctacctca
     2701 aggaccacat ttcccaaagg aagcctggcc caggcaccct gcctcctgct ctgtttgggg
     2761 atcaagaact gtaaatttat gtatcatagg tgcacctgag ccccacagaa agttgtgcat
     2821 aaaaatgact gccctggctg ggcatggctg cctgtaatcc cagcactttg ggaggctgag
     2881 gtgggaggat cccttgagcc caggagttcc agaccagcct gggcaatata gggaaaccct
     2941 gtctttacaa aaaaaaattt taaaaatta
//
