LOCUS       NM_004706               3229 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens Rho guanine nucleotide exchange factor 1 (ARHGEF1),
            transcript variant 2, mRNA.
ACCESSION   NM_004706
VERSION     NM_004706.4
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 3229)
  AUTHORS   Jha,P., Singh,P., Arora,S., Sultan,A., Nayek,A., Ponnusamy,K.,
            Syed,M.A., Dohare,R. and Chopra,M.
  TITLE     Integrative multiomics and in silico analysis revealed the role of
            ARHGEF1 and its screened antagonist in mild and severe COVID-19
            patients
  JOURNAL   J Cell Biochem 123 (3), 673-690 (2022)
   PUBMED   35037717
  REMARK    GeneRIF: Integrative multiomics and in silico analysis revealed the
            role of ARHGEF1 and its screened antagonist in mild and severe
            COVID-19 patients.
REFERENCE   2  (bases 1 to 3229)
  AUTHORS   Sajib,M.S., Zahra,F.T., Akwii,R.G. and Mikelis,C.M.
  TITLE     Identification of Rho GEF and RhoA Activation by Pull-Down Assays
  JOURNAL   Methods Mol Biol 2193, 97-109 (2021)
   PUBMED   32808262
  REMARK    GeneRIF: Identification of Rho GEF and RhoA Activation by Pull-Down
            Assays.
REFERENCE   3  (bases 1 to 3229)
  AUTHORS   Shaifta,Y., MacKay,C.E., Irechukwu,N., O'Brien,K.A., Wright,D.B.,
            Ward,J.P.T. and Knock,G.A.
  TITLE     Transforming growth factor-beta enhances Rho-kinase activity and
            contraction in airway smooth muscle via the nucleotide exchange
            factor ARHGEF1
  JOURNAL   J Physiol 596 (1), 47-66 (2018)
   PUBMED   29071730
  REMARK    GeneRIF: High ARHGEF1 expression is associated with asthmatic
            airway hyper-responsiveness.
REFERENCE   4  (bases 1 to 3229)
  AUTHORS   Singh,N.K., Janjanam,J. and Rao,G.N.
  TITLE     p115 RhoGEF activates the Rac1 GTPase signaling cascade in MCP1
            chemokine-induced vascular smooth muscle cell migration and
            proliferation
  JOURNAL   J Biol Chem 292 (34), 14080-14091 (2017)
   PUBMED   28655771
  REMARK    GeneRIF: Data suggest that MCP1/CCL2 induces activation/tyrosine
            phosphorylation of ARHGEF1/p115-RhoGEF and up-regulates RAC1
            signaling in vascular smooth muscle cells (VSMCs); ARHGEF1
            inhibition suppresses MCP1-induced VSMC migration and
            proliferation. (ARHGEF1 = Rho guanine nucleotide exchange factor 1;
            RAC1 = Rac family small GTPase 1; CCL2 = C-C motif chemokine ligand
            2)
REFERENCE   5  (bases 1 to 3229)
  AUTHORS   Spellmon,N., Holcomb,J., Niu,A., Choudhary,V., Sun,X., Zhang,Y.,
            Wan,J., Doughan,M., Hayden,S., Hachem,F., Brunzelle,J., Li,C. and
            Yang,Z.
  TITLE     Structural basis of PDZ-mediated chemokine receptor CXCR2
            scaffolding by guanine nucleotide exchange factor PDZ-RhoGEF
  JOURNAL   Biochem Biophys Res Commun 485 (2), 529-534 (2017)
   PUBMED   28179147
  REMARK    GeneRIF: Data indicate that the crystal structure of PDZ-RhoGEF PDZ
            domain in complex with the CXC chemokine receptor 2 (CXCR2)
            C-terminal PDZ binding motif.
REFERENCE   6  (bases 1 to 3229)
  AUTHORS   Azim,A.C., Barkalow,K., Chou,J. and Hartwig,J.H.
  TITLE     Activation of the small GTPases, rac and cdc42, after ligation of
            the platelet PAR-1 receptor
  JOURNAL   Blood 95 (3), 959-964 (2000)
   PUBMED   10648409
REFERENCE   7  (bases 1 to 3229)
  AUTHORS   Hart,M.J., Jiang,X., Kozasa,T., Roscoe,W., Singer,W.D.,
            Gilman,A.G., Sternweis,P.C. and Bollag,G.
  TITLE     Direct stimulation of the guanine nucleotide exchange activity of
            p115 RhoGEF by Galpha13
  JOURNAL   Science 280 (5372), 2112-2114 (1998)
   PUBMED   9641916
REFERENCE   8  (bases 1 to 3229)
  AUTHORS   Kozasa,T., Jiang,X., Hart,M.J., Sternweis,P.M., Singer,W.D.,
            Gilman,A.G., Bollag,G. and Sternweis,P.C.
  TITLE     p115 RhoGEF, a GTPase activating protein for Galpha12 and Galpha13
  JOURNAL   Science 280 (5372), 2109-2111 (1998)
   PUBMED   9641915
REFERENCE   9  (bases 1 to 3229)
  AUTHORS   Aasheim,H.C., Pedeutour,F. and Smeland,E.B.
  TITLE     Characterization, expression and chromosomal localization of a
            human gene homologous to the mouse Lsc oncogene, with strongest
            expression in hematopoetic tissues
  JOURNAL   Oncogene 14 (14), 1747-1752 (1997)
   PUBMED   9135076
REFERENCE   10 (bases 1 to 3229)
  AUTHORS   Hart,M.J., Sharma,S., elMasry,N., Qiu,R.G., McCabe,P., Polakis,P.
            and Bollag,G.
  TITLE     Identification of a novel guanine nucleotide exchange factor for
            the Rho GTPase
  JOURNAL   J Biol Chem 271 (41), 25452-25458 (1996)
   PUBMED   8810315
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243967.3, BM147791.1,
            BC011726.2 and BC005155.2.
            
            On Jun 2, 2019 this sequence version replaced NM_004706.3.
            
            Summary: Rho GTPases play a fundamental role in numerous cellular
            processes that are initiated by extracellular stimuli that work
            through G protein coupled receptors. The encoded protein may form
            complex with G proteins and stimulate Rho-dependent signals.
            Multiple alternatively spliced transcript variants have been found
            for this gene, but the full-length nature of some variants has not
            been defined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) has an alternate 5' exon and
            uses a downstream start codon, as compared to variant 1. The
            encoded isoform 2 thus has a shorter N-terminus, as compared to
            isoform 1.
            
            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 :: U64105.1, SRR9304715.379572.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354532.8/ ENSP00000346532.3
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC243967.3         28706-28721         c
            17-41               BM147791.1         2-26
            42-278              BC011726.2         1-237
            279-3227            BC005155.2         1-2949
            3228-3229           BC011726.2         3088-3089
FEATURES             Location/Qualifiers
     source          1..3229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..3229
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /note="Rho guanine nucleotide exchange factor 1"
                     /db_xref="GeneID:9138"
                     /db_xref="HGNC:HGNC:681"
                     /db_xref="MIM:601855"
     exon            1..106
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            107..149
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..2864
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /note="isoform 2 is encoded by transcript variant 2; Lsc
                     homolog; 115-kD protein; Rho guanine nucleotide exchange
                     factor (GEF) 1; p115RhoGEF; 115 kDa guanine nucleotide
                     exchange factor"
                     /codon_start=1
                     /product="rho guanine nucleotide exchange factor 1 isoform
                     2"
                     /protein_id="NP_004697.2"
                     /db_xref="CCDS:CCDS12591.1"
                     /db_xref="GeneID:9138"
                     /db_xref="HGNC:HGNC:681"
                     /db_xref="MIM:601855"
                     /translation="MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNS
                     QFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPKEAKKAFLDFYHS
                     FLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSK
                     RLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAV
                     VNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNR
                     GEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSP
                     DREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETESPEPGDEGEPGRSGLELEP
                     EEPPGWRELVPPDTLHSLPKSQVKRQEVISELLVTEAAHVRMLRVLHDLFFQPMAECL
                     FFPLEELQNIFPSLDELIEVHSLFLDRLMKRRQESGYLIEEIGDVLLARFDGAEGSWF
                     QKISSRFCSRQSFALEQLKAKQRKDPRFCAFVQEAESRPRCRRLQLKDMIPTEMQRLT
                     KYPLLLQSIGQNTEEPTEREKVELAAECCREILHHVNQAVRDMEDLLRLKDYQRRLDL
                     SHLRQSSDPMLSEFKNLDITKKKLVHEGPLTWRVTKDKAVEVHVLLLDDLLLLLQRQD
                     ERLLLKSHSRTLTPTPDGKTMLRPVLRLTSAMTREVATDHKAFYVLFTWDQEAQIYEL
                     VAQTVSERKNWCALITETAGSLKVPAPASRPKPRPSPSSTREPLLSSSENGNGGRETS
                     PADARTERILSDLLPFCRPGPEGQLAATALRKVLSLKQLLFPAEEDNGAGPPRDGDGV
                     PGGGPLSPARTQEIQENLLSLEETMKQLEELEEEFCRLRPLLSQLGGNSVPQPGCT"
     exon            150..236
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            237..350
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            351..449
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            450..492
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            493..739
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            740..769
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            770..869
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            870..966
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1002
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1140
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1246
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1392
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1539
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1622
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..1748
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1863
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1964
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1965..2042
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2118
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2119..2286
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2287..2374
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2375..2461
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2462..2529
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2530..2616
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2617..2780
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2781..2881
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     exon            2882..3229
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3209..3214
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /note="hexamer: AATATA"
     polyA_site      3229
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /note="major polyA site"
ORIGIN      
        1 gacttcctgc cccgccagag ccaggaagcg ggagccggga cccagggccc gggatcgccg
       61 agcccgacct cgggcgcccc gccggtcacc tccgcgcgga caccagccct gcagagccca
      121 gggagatgga agacttcgcc cgaggggcgg cctccccagg cccctcccgg cctggcctgg
      181 ttcccgtcag catcatcggg gctgaggatg aggattttga gaacgagctg gagacaaact
      241 cagaagagca aaacagccag ttccagagcc tggagcaggt gaagcggcgc ccagcccacc
      301 tcatggccct cctgcagcac gtggccctgc agtttgagcc aggacccctg ctttgctgtc
      361 tgcatgccga catgctgggc tcactgggcc ccaaggaggc caagaaggcc ttcctggact
      421 tctaccacag cttcctggag aagacagcgg ttctccgggt gccggtccct cccaacgtcg
      481 cctttgaact tgaccgcact agggctgacc tcatctccga ggatgtccag cggcggttcg
      541 tgcaggaggt ggtgcaaagc cagcaggtag ccgtgggccg gcagctggag gacttccgtt
      601 ccaagcggct catgggcatg acgccctggg agcaggagct ggcccagctg gaggcttggg
      661 ttgggcggga ccgagccagc tacgaggccc gggagcggca cgtggcggag cggctgctca
      721 tgcacctgga ggagatgcaa cataccatct ctaccgacga agaaaagagt gctgccgtgg
      781 tcaacgccat tggcctgtac atgcgccacc ttggggtgcg gaccaagagt ggagacaaga
      841 agtcggggag gaacttcttc cggaaaaagg tgatggggaa ccggcggtcg gacgagcctg
      901 ccaagaccaa gaaggggctg agcagcatcc tggatgccgc ccgctggaac cggggagagc
      961 cccaggttcc agattttcga cacctcaaag cagaggttga tgccgagaag ccaggtgcta
     1021 cagaccggaa gggaggcgtg gggatgccct ctcgggaccg gaatatcggg gctcctgggc
     1081 aggacacccc tggagtctct ctgcaccctc tgtccctgga cagcccagac cgggaaccag
     1141 gtgctgacgc ccccctggag ctgggggact catccccgca gggcccaatg agcctggagt
     1201 ccttggcgcc cccagagagt accgacgagg gggccgaaac cgagagcccc gagcctggag
     1261 atgaggggga gccggggcgg tcgggactgg agcttgaacc agaagagcct cccggctggc
     1321 gggaactcgt ccccccagac accctgcaca gcctgcccaa gagccaggtg aagcggcagg
     1381 aggtcatcag cgagctgctg gtgacagagg cggcccacgt gcgcatgctg cgggtgctgc
     1441 acgacctctt cttccagccc atggcagaat gcctgttctt ccccttggag gagctgcaga
     1501 acatcttccc cagcctggac gagctcatcg aggtgcattc cctgttcctc gatcgcctga
     1561 tgaagcggag gcaggagagt ggctacctca tcgaggagat cggagacgtg ctgctggccc
     1621 ggtttgatgg tgctgagggc tcctggttcc agaaaatctc ctcccgcttc tgcagccgcc
     1681 agtcatttgc cttagagcag ctcaaagcca agcaacgcaa ggaccctcgg ttctgtgcct
     1741 tcgtgcagga agctgagagc cgcccgcggt gccgccgcct gcagctgaag gacatgatcc
     1801 ccacggagat gcagcggctg accaagtacc ccctgctcct gcagagcatc gggcagaaca
     1861 cagaagagcc cacagaacgg gagaaagtgg agctggcagc cgagtgctgc cgggaaattc
     1921 tacaccacgt caaccaagcc gtgcgtgaca tggaggacct gctgaggctc aaggactatc
     1981 agcggcgcct ggacttgtcc caccttcggc agagcagcga ccctatgctg agcgagttca
     2041 agaacctgga catcaccaag aagaaattgg tccacgaggg cccactgacg tggcgggtga
     2101 ctaaggacaa ggcagtggag gtgcatgtgc tgctgctgga cgacctgctg ctgctgctcc
     2161 agcgccagga cgagcggctg ctgctcaagt cccatagccg gacactgacg cccacgcccg
     2221 atggcaagac catgctgcgg cccgtgctgc ggctcacctc cgccatgacc cgcgaggtgg
     2281 ccaccgatca caaagccttc tacgtccttt ttacctggga ccaggaggcc cagatatacg
     2341 agctggtggc acagactgtg tcggagcgga aaaactggtg tgctctcatc actgagactg
     2401 ccggatccct gaaagtccct gcccctgcct ctcgccctaa gccccggccc agcccgagca
     2461 gcacccgaga acccctcctc agcagctctg agaacggcaa tggtggccga gagacgtctc
     2521 cagctgatgc ccggaccgag agaatcctca gtgacctcct gcccttctgc agaccaggcc
     2581 ccgagggcca gctcgctgcc acggcccttc ggaaagtgct gtccctgaag cagcttctgt
     2641 ttccggcgga ggaagacaat ggggcggggc ctcctcgaga tggggatggg gtcccagggg
     2701 gcggccccct gagcccagca cggacccagg aaatccagga gaacctgctc agcttggagg
     2761 agaccatgaa gcagctggag gagttggagg aggaattttg ccgcctgaga cccctcctgt
     2821 ctcagcttgg ggggaactct gtcccccagc ctggctgcac ttgaggttcc cgcccaggaa
     2881 ggccttttgc aagaaggaga ggaatggggg agaggacgtg agggaccacc cccacccaca
     2941 cagctgccgc agcatctcac accccgaggg cctgaggaga gggagctgtg ggccacgcct
     3001 gggaggggcc cagctggggt tactggcccc gcatgagcct cggccatctc tccctcctgc
     3061 cctctgcttg ggggactcag ggctccattc tggagggcac cacggtgacc cgggccatct
     3121 cagtattgcc tgtgggggcc acccctccac ccccaccccc aagtgccttc gctctgtttt
     3181 tataccctga attggaggtt tattttttaa tatatattat ctaagaaga
//
