LOCUS       NM_019850               3184 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens neuronal guanine nucleotide exchange factor (NGEF),
            transcript variant 1, mRNA.
ACCESSION   NM_019850
VERSION     NM_019850.3
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 3184)
  AUTHORS   Kim,J., Jeon,Y.J., Lim,S.C., Ryu,J., Lee,J.H., Chang,I.Y. and
            You,H.J.
  TITLE     Akt-mediated Ephexin1-Ras interaction promotes oncogenic Ras
            signaling and colorectal and lung cancer cell proliferation
  JOURNAL   Cell Death Dis 12 (11), 1013 (2021)
   PUBMED   34711817
  REMARK    GeneRIF: Akt-mediated Ephexin1-Ras interaction promotes oncogenic
            Ras signaling and colorectal and lung cancer cell proliferation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3184)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3184)
  AUTHORS   Kim,H.J., Park,J.H., Lee,S., Son,H.Y., Hwang,J., Chae,J., Yun,J.M.,
            Kwon,H., Kim,J.I. and Cho,B.
  TITLE     A Common Variant of NGEF Is Associated with Abdominal Visceral Fat
            in Korean Men
  JOURNAL   PLoS One 10 (9), e0137564 (2015)
   PUBMED   26340433
  REMARK    GeneRIF: A visceral-fat-associated SNP, rs11678490 of NGEF, was
            found in Korean men.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3184)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (bases 1 to 3184)
  AUTHORS   Goodbourn,P.T., Bosten,J.M., Bargary,G., Hogg,R.E.,
            Lawrance-Owen,A.J. and Mollon,J.D.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   6  (bases 1 to 3184)
  AUTHORS   Rabizadeh,S. and Bredesen,D.E.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   7  (bases 1 to 3184)
  AUTHORS   Salehi,A.H., Xanthoudakis,S. and Barker,P.A.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   8  (bases 1 to 3184)
  AUTHORS   Harrington,A.W., Kim,J.Y. and Yoon,S.O.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   9  (bases 1 to 3184)
  AUTHORS   Shamah,S.M., Lin,M.Z., Goldberg,J.L., Estrach,S., Sahin,M., Hu,L.,
            Bazalakova,M., Neve,R.L., Corfas,G., Debant,A. and Greenberg,M.E.
  TITLE     EphA receptors regulate growth cone dynamics through the novel
            guanine nucleotide exchange factor ephexin
  JOURNAL   Cell 105 (2), 233-244 (2001)
   PUBMED   11336673
REFERENCE   10 (bases 1 to 3184)
  AUTHORS   Rodrigues,N.R., Theodosiou,A.M., Nesbit,M.A., Campbell,L.,
            Tandle,A.T., Saranath,D. and Davies,K.E.
  TITLE     Characterization of Ngef, a novel member of the Dbl family of genes
            expressed predominantly in the caudate nucleus
  JOURNAL   Genomics 65 (1), 53-61 (2000)
   PUBMED   10777665
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106876.3, DB242442.1, DC388448.1, BC073962.1, BX431262.1,
            BC031573.1 and AC016692.9.
            
            On Nov 22, 2018 this sequence version replaced NM_019850.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: BC031573.1, SRR9304717.306078.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264051.8/ ENSP00000264051.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC106876.3         74885-74899         c
            16-586              DB242442.1         1-571
            587-679             DC388448.1         476-568
            680-1252            BC073962.1         296-868
            1253-1716           BX431262.1         111-574
            1717-2461           BC031573.1         1689-2433
            2462-3184           AC016692.9         75445-76167         c
FEATURES             Location/Qualifiers
     source          1..3184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..3184
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /note="neuronal guanine nucleotide exchange factor"
                     /db_xref="GeneID:25791"
                     /db_xref="HGNC:HGNC:7807"
                     /db_xref="MIM:605991"
     exon            1..189
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            190..531
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             264..2396
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ephexin-1; eph-interacting exchange protein; ephexin1"
                     /codon_start=1
                     /product="ephexin-1 isoform 1"
                     /protein_id="NP_062824.2"
                     /db_xref="CCDS:CCDS2500.1"
                     /db_xref="GeneID:25791"
                     /db_xref="HGNC:HGNC:7807"
                     /db_xref="MIM:605991"
                     /translation="METRESEDLEKTRRKSASDQWNTDNEPAKVKPELLPEKEETSQA
                     DQDIQDKEPHCHIPIKRNSIFNRSIRRKSKAKARDNPERNASCLADSQDNGKSVNEPL
                     TLNIPWSRMPPCRTAMQTDPGAQEMSESSSTPGNGATPEEWPALADSPTTLTEALRMI
                     HPIPADSWRNLIEQIGLLYQEYRDKSTLQEIETRRQQDAEIEDNTNGSPASEDTPEEE
                     EEEEEEEEPASPPERKTLPQICLLSNPHSRFNLWQDLPEIRSSGVLEILQPEEIKLQE
                     AMFELVTSEASYYKSLNLLVSHFMENERIRKILHPSEAHILFSNVLDVLAVSERFLLE
                     LEHRMEENIVISDVCDIVYRYAADHFSVYITYVSNQTYQERTYKQLLQEKAAFRELIA
                     QLELDPKCRGLPFSSFLILPFQRITRLKLLVQNILKRVEERSERECTALDAHKELEMV
                     VKACNEGVRKMSRTEQMISIQKKMEFKIKSVPIISHSRWLLKQGELQQMSGPKTSRTL
                     RTKKLFHEIYLFLFNDLLVICRQIPGDKYQVFDSAPRGLLRVEELEDQGQTLANVFIL
                     RLLENADDREATYMLKASSQSEMKRWMTSLAPNRRTKFVSFTSRLLDCPQVQCVHPYV
                     AQQPDELTLELADILNILDKTDDGWIFGERLHDQERGWFPSSMTEEILNPKIRSQNLK
                     ECFRVHKMDDPQRSQNKDRRKLGSRNRQ"
     exon            532..646
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            647..789
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            790..1091
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1252
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1405
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1535
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1610
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1700
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1864
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1865..2020
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            2021..2100
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            2101..2205
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     exon            2206..3184
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3156..3161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /note="hexamer: ATTAAA"
     polyA_site      3184
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /note="major polyA site"
ORIGIN      
        1 aatgcttacc agtgaagctt ttccaggaca ggacgaagtt tttggctgtg ggctctctgg
       61 gacagagtgg agcgcctgtg gatttagccg gggacacacc atcctgctcg caggtgcctg
      121 gacaggacag gggacgaggg aggaacactc tctgaggaag cccaactcct atgagctcct
      181 ctctggcagc actcaaacca gtgaagcttg ggaaagtcat tgacctccag tcgttctgct
      241 gagaaacatc tggctctatt tccatggaga ccagggaatc tgaagatttg gaaaagaccc
      301 ggaggaaatc agcaagtgat caatggaaca ctgataatga accagccaag gtgaaacctg
      361 agttactccc agaaaaagag gagacttctc aagctgacca ggatatccaa gacaaagagc
      421 ctcattgcca catcccaatt aagagaaatt ccatcttcaa tcgctccata agacgcaaaa
      481 gcaaagccaa ggccagagac aaccccgaac ggaacgccag ctgcctggca gattcacagg
      541 acaatggaaa atctgtaaat gagcccctga ccttgaatat cccctggagc agaatgcctc
      601 cttgcagaac agcaatgcag acagacccag gagcccagga aatgagtgag tcgtcctcca
      661 ccccgggaaa tggggccacg cccgaggagt ggccggccct ggccgacagc cccaccacgc
      721 tcaccgaggc cctgcggatg atccacccca ttcccgccga ctcctggaga aacctcattg
      781 aacaaatagg gctcctgtat caggaatacc gagataaatc gactctccaa gaaatcgaaa
      841 ccaggaggca acaggatgca gaaatagaag acaataccaa tgggtccccg gccagtgagg
      901 acaccccgga ggaggaagaa gaagaggagg aggaggagga gccggccagc ccaccagaga
      961 ggaagactct gccccagatc tgcctgctca gtaaccccca ctcaaggttc aacctctggc
     1021 aggatcttcc cgagatccgg agcagcgggg tgcttgagat cctacagccc gaggagatta
     1081 agctgcagga ggccatgttc gagctggtca cttccgaggc gtcctactac aagagtctga
     1141 acctgctcgt gtcccacttc atggagaacg agcggataag gaagatcctg cacccgtccg
     1201 aggcgcacat cctcttctcc aacgtcctgg acgtgctggc tgtcagtgag cggttcctcc
     1261 tggagctgga gcaccggatg gaggagaaca tcgtcatctc tgacgtgtgt gacattgtgt
     1321 accgttatgc ggccgaccac ttctctgtct acatcaccta cgtcagcaat cagacctacc
     1381 aggagcggac ctataagcag ctgctccagg agaaggcagc tttccgggag ctgatcgcgc
     1441 agctagagct cgaccccaag tgcagggggc tgcccttctc ctccttcctc atcctgcctt
     1501 tccagaggat cacacgcctc aagctgttgg tccagaacat cctgaagagg gtagaagaga
     1561 ggtctgagcg ggagtgcact gctttggatg ctcacaagga gctggaaatg gtggtgaagg
     1621 catgcaacga gggcgtcagg aaaatgagcc gcacggaaca gatgatcagc attcagaaga
     1681 agatggagtt caagatcaag tcggtgccca tcatctccca ctcccgctgg ctgctgaagc
     1741 agggtgagct gcagcagatg tcaggcccca agacctcccg gaccctgagg accaagaagc
     1801 tcttccacga aatttacctc ttcctgttca acgacctgct ggtgatctgc cggcagattc
     1861 caggagacaa gtaccaggta tttgactcag ctccgcgggg actgctgcgt gtggaggagc
     1921 tggaggacca gggccagacg ctggccaacg tgttcatcct gcggctgctg gagaacgcag
     1981 atgaccggga ggccacctac atgctaaagg cgtcctctca gagtgagatg aagcgttgga
     2041 tgacctcact ggcccccaac aggaggacca agtttgtttc gttcacatcc cggctgctgg
     2101 actgccccca ggtccagtgc gtgcacccat acgtggctca gcagccagac gagctgacgc
     2161 tggagctcgc cgacatcctc aacatcctgg acaagactga cgacgggtgg atctttggcg
     2221 agcgtctgca cgaccaggag agaggctggt tccccagctc catgactgag gagatcttga
     2281 atcccaagat ccggtcccag aacctcaagg aatgtttccg tgtccacaag atggatgacc
     2341 ctcagcgcag ccagaacaag gaccgcagga agctgggcag ccggaatcgg caatgacccc
     2401 cacccagggg gccagcggga gcagggcctg catgagaccc cgacagaagg tggggggggg
     2461 ggggctctgg gaagcacagg ccagcacctc cccaggtggc aggatctggc ttggggtgcc
     2521 cggccctcat ccctgcccac gcagtgagtg ctcatgtgtc ttggcccctt gctcgcaaac
     2581 tggataaagg gtgcccaagc ctctcctgat gcatttgtaa acaagaaggt ttcagcagta
     2641 ttacaccacc tccctcatgc ctccgagggg gtggaagggg gtgggcacac tccagggccc
     2701 cccatgcccc tggcccccag ggactggaag aggctcccaa cccagagtgt ccctgtggga
     2761 ggcaggcaga aggtgacaat tgacacgatt tcctgcacgc gtcctcctct accttggaag
     2821 cagttagaat ctaccaggca cagatgaggc cgcccttgcc tgacggagct tgatgagcag
     2881 cccttggtct ccggttccag gactgagagc ccagctgcct ctgcccaccc ttccccaggc
     2941 ctctgccagc ctctggctgc acggtcaggc cctgccccat ggcaggcctg ccagagcttg
     3001 gctggggacc cctcccgcct ctggctccct gatgggctgg atgtaacttg tgtcttctag
     3061 ccccttaagg agcccaggtg ttttaaggaa tgaattggtc actgcatctt gtatcgatta
     3121 tggttctgag aaaagcaaat atcacttttg gctgcattaa aagaagcatc atatataaaa
     3181 taaa
//
