LOCUS       NM_014504               3733 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RAB guanine nucleotide exchange factor 1 (RABGEF1),
            transcript variant 4, mRNA.
ACCESSION   NM_014504
VERSION     NM_014504.3
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 3733)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 3733)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3733)
  AUTHORS   Fan,H., Xin,T., Dong,X., Yang,F., Zhang,R., Feng,S., He,D., Guo,H.
            and Pang,Q.
  TITLE     RabGEF1 functions as an oncogene in U251 glioblastoma cells and is
            involved in regulating AKT and Erk pathways
  JOURNAL   Exp Mol Pathol 118, 104571 (2021)
   PUBMED   33166495
  REMARK    GeneRIF: RabGEF1 functions as an oncogene in U251 glioblastoma
            cells and is involved in regulating AKT and Erk pathways.
REFERENCE   4  (bases 1 to 3733)
  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   5  (bases 1 to 3733)
  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   6  (bases 1 to 3733)
  AUTHORS   Jin,J., Smith,F.D., Stark,C., Wells,C.D., Fawcett,J.P.,
            Kulkarni,S., Metalnikov,P., O'Donnell,P., Taylor,P., Taylor,L.,
            Zougman,A., Woodgett,J.R., Langeberg,L.K., Scott,J.D. and Pawson,T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   7  (bases 1 to 3733)
  AUTHORS   Mattera,R., Arighi,C.N., Lodge,R., Zerial,M. and Bonifacino,J.S.
  TITLE     Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5
            complex
  JOURNAL   EMBO J 22 (1), 78-88 (2003)
   PUBMED   12505986
  REMARK    GeneRIF: GGAs, a family of Arf-dependent clathrin adaptors involved
            in selection of TGN cargo, interact with the Rabaptin-5-Rabex-5
            complex, a Rab4/Rab5 effector regulating endosome fusion
REFERENCE   8  (bases 1 to 3733)
  AUTHORS   Lippe,R., Miaczynska,M., Rybin,V., Runge,A. and Zerial,M.
  TITLE     Functional synergy between Rab5 effector Rabaptin-5 and exchange
            factor Rabex-5 when physically associated in a complex
  JOURNAL   Mol Biol Cell 12 (7), 2219-2228 (2001)
   PUBMED   11452015
REFERENCE   9  (bases 1 to 3733)
  AUTHORS   Nimmrich,I., Erdmann,S., Melchers,U., Finke,U., Hentsch,S.,
            Moyer,M.P., Hoffmann,I. and Muller,O.
  TITLE     Seven genes that are differentially transcribed in colorectal tumor
            cell lines
  JOURNAL   Cancer Lett 160 (1), 37-43 (2000)
   PUBMED   11098082
REFERENCE   10 (bases 1 to 3733)
  AUTHORS   Horiuchi,H., Lippe,R., McBride,H.M., Rubino,M., Woodman,P.,
            Stenmark,H., Rybin,V., Wilm,M., Ashman,K., Mann,M. and Zerial,M.
  TITLE     A novel Rab5 GDP/GTP exchange factor complexed to Rabaptin-5 links
            nucleotide exchange to effector recruitment and function
  JOURNAL   Cell 90 (6), 1149-1159 (1997)
   PUBMED   9323142
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC027644.9.
            
            On Dec 12, 2018 this sequence version replaced NM_014504.2.
            
            Summary: RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM
            603616) that is required for endocytic membrane fusion, and it
            serves as a specific guanine nucleotide exchange factor (GEF) for
            RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed
            9323142]).[supplied by OMIM, Mar 2010].
            
            Transcript Variant: This variant (4) contains alternate 5' exon
            structure and includes an additional internal exon, and it thus
            differs in its 5' UTR and initiates translation at an alternate
            start codon, compared to variant 1. The encoded isoform (c) is
            longer at the N-terminus, compared to isoform a. Variants 3, 4, and
            9-20 all encode the same isoform (c).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: AJ250042.1, SRR1803611.272145.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284957.9/ ENSP00000284957.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                AC027644.9         131376-131435       c
            61-256              AC027644.9         100090-100285       c
            257-423             AC027644.9         96775-96941         c
            424-590             AC027644.9         88327-88493         c
            591-672             AC027644.9         76576-76657         c
            673-805             AC027644.9         74662-74794         c
            806-897             AC027644.9         72754-72845         c
            898-1154            AC027644.9         66772-67028         c
            1155-3733           AC027644.9         60704-63282         c
FEATURES             Location/Qualifiers
     source          1..3733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..3733
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /note="RAB guanine nucleotide exchange factor 1"
                     /db_xref="GeneID:27342"
                     /db_xref="HGNC:HGNC:17676"
                     /db_xref="MIM:609700"
     exon            1..60
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            61..256
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1553
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /note="isoform c is encoded by transcript variant 4; Rab5
                     GDP/GTP exchange factor; rabaptin-5-associated exchange
                     factor for Rab5; RAB guanine nucleotide exchange factor
                     (GEF) 1"
                     /codon_start=1
                     /product="rab5 GDP/GTP exchange factor isoform c"
                     /protein_id="NP_055319.1"
                     /db_xref="CCDS:CCDS5535.1"
                     /db_xref="GeneID:27342"
                     /db_xref="HGNC:HGNC:17676"
                     /db_xref="MIM:609700"
                     /translation="MSLKSERRGIHVDQSDLLCKKGCGYYGNPAWQGFCSKCWREEYH
                     KARQKQIQEDWELAERLQREEEEAFASSQSSQGAQSLTFSKFEEKKTNEKTRKVTTVK
                     KFFSASSRVGSKKEIQEAKAPSPSINRQTSIETDRVSKEFIEFLKTFHKTGQEIYKQT
                     KLFLEGMHYKRDLSIEEQSECAQDFYHNVAERMQTRGKVPPERVEKIMDQIEKYIMTR
                     LYKYVFCPETTDDEKKDLAIQKRIRALRWVTPQMLCVPVNEDIPEVSDMVVKAITDII
                     EMDSKRVPRDKLACITKCSKHIFNAIKITKNEPASADDFLPTLIYIVLKGNPPRLQSN
                     IQYITRFCNPSRLMTGEDGYYFTNLCCAVAFIEKLDAQSLNLSQEDFDRYMSGQTSPR
                     KQEAESWSPDACLGVKQMYKNLDLLSQLNERQERIMNEAKKLEKDLIDWTDGIAREVQ
                     DIVEKYPLEIKPPNQPLAAIDSENVENDKLPPPLQPQVYAG"
     exon            257..423
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            424..590
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            591..672
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            673..805
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            806..897
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1154
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..3733
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3700..3705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /note="hexamer: AATAAA"
     polyA_site      3733
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /note="major polyA site"
ORIGIN      
        1 agacctaccc gggcgaagcg ggcgagcggt ggtttggacg ccggcggaga cgcgggcgag
       61 tggttagcag gaagaagatg agccttaagt ctgaacgccg aggaattcat gtggatcaat
      121 cggatctcct gtgcaagaaa ggatgtggtt actacggcaa ccctgcctgg cagggtttct
      181 gctccaagtg ctggagggaa gagtaccaca aagccaggca gaagcagatt caggaggact
      241 gggagctggc ggagcgactc cagcgggagg aagaagaggc ctttgccagc agtcagagca
      301 gccaaggggc ccaatccctc acattctcca agtttgaaga aaagaaaacc aacgagaaga
      361 cccgcaaggt taccacagtg aagaaattct tcagtgcatc ttccagggtc ggatcaaaga
      421 aggaaattca ggaagcaaaa gctcccagtc cttccataaa ccggcaaacc agcattgaaa
      481 cggatagagt gtctaaggag ttcatagaat ttctcaagac cttccacaag acaggccaag
      541 aaatctataa acagaccaag ctgtttttgg aaggaatgca ttacaaaagg gatctaagca
      601 ttgaagaaca gtcagagtgt gctcaggatt tctaccacaa tgtggccgaa aggatgcaaa
      661 ctcgtgggaa agtgcctcca gaaagagtcg agaagataat ggatcagatt gaaaagtaca
      721 tcatgactcg tctctataaa tatgtattct gtccagaaac tactgatgat gagaagaaag
      781 atcttgccat tcaaaagaga atcagagccc tgcgctgggt tacgcctcag atgctgtgtg
      841 tccctgttaa tgaagacatc ccagaagtgt ctgatatggt ggtgaaggcg atcacagata
      901 tcattgaaat ggattccaag cgtgtgcctc gagacaagct ggcctgcatc accaagtgca
      961 gcaagcacat cttcaatgcc atcaagatca ccaagaatga gccggcgtca gcggatgact
     1021 tcctccccac cctcatctac attgttttga agggcaaccc cccacgcctt cagtctaata
     1081 tccagtatat cacgcgcttc tgcaatccaa gccgactgat gactggagag gatggctact
     1141 atttcaccaa tctgtgctgt gctgtggctt tcattgagaa gctagacgcc cagtctttga
     1201 atctaagtca ggaggatttt gatcgctaca tgtctggcca gacctctccc aggaagcaag
     1261 aagctgagag ttggtctcct gatgcttgct taggcgtcaa gcaaatgtat aagaacttgg
     1321 atctcttgtc tcagttgaat gaacgacaag aaaggatcat gaatgaagcc aagaaactgg
     1381 aaaaagacct catagattgg acagatggaa ttgcaagaga agttcaagac atcgttgaga
     1441 aatacccact ggaaattaag cctccgaatc aaccgttagc agctattgac tctgaaaacg
     1501 ttgaaaatga taaacttcct ccaccactgc aacctcaagt ttatgcagga tgatcacaat
     1561 ttagtggaga gtatttattt gagcctaaat tgtaggtagc ccttactaca ctcaactgat
     1621 tgggatctag aatgtaacta aattgcttat aaatgtcagc attttttaaa ggtacagtat
     1681 atggggattg tttcgttttt cctagcaggg gaaccttagt taataataaa atactactta
     1741 tttgagttac tgatacagat tcatttaagg cttgtgtgca aattttgtct caatcttttt
     1801 tccctccatg attttcctat gtgcttcctc tggcattcac tgtggttttg gtaaataatt
     1861 gccttttaaa ggattaaaca aatgaatgct acaaagtgta tgttcaagaa aattaaatgg
     1921 taccactctt ccacagtttg gaataatttt ataattgtaa agatagaaat tatattgata
     1981 agtaaatatg taaaattgta aatatgtaaa aaaaagaatg gtgtctgctg tgcatggcat
     2041 tttatatgtt aattttttag tttaaaatga agtatattga atgtttgcct ttagcaccat
     2101 tttatttggt ttgtcccact aaaatgactc gagaagtgtt tagacaaact ccccttaaga
     2161 tgtgcactcc atctttaaga acgtgttagc cttaactttg aggttctata tagtcagaga
     2221 ctatgacacc actaaggttc agaataaagt ttaggccaca taaaattgct gtttaatgta
     2281 gtcgatggaa gactttaaac tatgcttcta gcttattttt ccctcattca ttcagcaaat
     2341 ctctattgag ttcttcagtg agaaggagca ggcactgggc ctggaatgga aggcgggaat
     2401 gaatgggcct ctgatggtga gaggtgacgg ggtccctcag ctgtgagatg caaggggcgc
     2461 cttgcagcct ccataatata catttgactt tgcaaacgtc tagacatgtt ttctgaacct
     2521 ttttcaggac atttcaacct cgggactatt catattagtg gcctgagagg tgtttgttgt
     2581 ggggccaccc tgtgcatggt agaatgttca gcagcattcc tgccatccat atccattagg
     2641 tgccagtagc acccccgcta gagctgtgaa aaattctctc cagacatagt cagatgtctc
     2701 ctggggccat atcacccctc cgttaagaac cactgatgtc ttttacaaac caggagttat
     2761 cctcctggtg gttaatatgg tgtaaccaaa gaatcttgca ctcaatgcac agtgtgatgt
     2821 taactaaaac gagttaaata tttaggaggc ttgacagcta cctgcattgt agaacctttt
     2881 cttatctcag tggaaccttc tataacctaa atataccatt gatgattctt cttccattca
     2941 gtgacatcca cagattatgc agctatactt gtgaaatcgt gcatgaggcc ccagggcacc
     3001 gttctagaac aacgtcactt cacacaggca gctgagaaag gttctcttgc ttttccagta
     3061 tcttcctaag gatggagccc aaaattgcag agcagtaact ttggaataaa accagggtgg
     3121 gtataaaact tcttattctt aaatttacat ataagatcta ttaagcttga cacatctgtg
     3181 tcatcacgca ctgaagacag gaagcagttc actgagtcag ctggttccca agctcgcaca
     3241 gaaggtgata agttactatc aaatgccagt gagaatcttc ttatagaata acctgggccc
     3301 aagtgatttt agtacaaaac ttgcccttct ttggtttaat tttctatgtg cttttaggtg
     3361 tgaatccaga tatgcggtct taattccttt ggaaatacac agttcgttta gttactgtac
     3421 actctgtttg ttcaataaac tgcatatcaa cttcccacaa aagctgactt ttttgggtct
     3481 cttacatata aagtaggtta ttgagttgat ttttttggag gtatctcata ttggtcgaat
     3541 tcttctggta tggactcttg ccttatatag aggcttctat ttctcttaag tcagcatcaa
     3601 tacaacggcc ggagtttctg tttttgcaat aagaagatgt tggtatttta tgtagggtaa
     3661 atgtgactgg aatacacctt tggaacggaa ttctttatca ataaagtttc acaatccgtc
     3721 cctcttccaa aaa
//
