LOCUS       NM_001291582             934 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens rabaptin, RAB GTPase binding effector protein 1
            (RABEP1), transcript variant 4, mRNA.
ACCESSION   NM_001291582
VERSION     NM_001291582.2
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 934)
  AUTHORS   Mihalic,F., Simonetti,L., Giudice,G., Sander,M.R., Lindqvist,R.,
            Peters,M.B.A., Benz,C., Kassa,E., Badgujar,D., Inturi,R., Ali,M.,
            Krystkowiak,I., Sayadi,A., Andersson,E., Aronsson,H., Soderberg,O.,
            Dobritzsch,D., Petsalaki,E., Overby,A.K., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Large-scale phage-based screening reveals extensive pan-viral
            mimicry of host short linear motifs
  JOURNAL   Nat Commun 14 (1), 2409 (2023)
   PUBMED   37100772
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 934)
  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   3  (bases 1 to 934)
  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   4  (bases 1 to 934)
  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   5  (bases 1 to 934)
  AUTHORS   Delacretaz,A., Zdralovic,A., Vandenberghe,F., Saigi-Morgui,N.,
            Glatard,A., Quteineh,L., Gholam-Rezaee,M., Raffoul,W.,
            Applegate,L.A., Jafari,P., Gamma,F., von Gunten,A., Conus,P. and
            Eap,C.B.
  TITLE     Association of variants in SH2B1 and RABEP1 with worsening of
            low-density lipoprotein and glucose parameters in patients treated
            with psychotropic drugs
  JOURNAL   Gene 628, 8-15 (2017)
   PUBMED   28694205
  REMARK    GeneRIF: SH2B1 and RABEP1 genetic variants are associated with
            worsening of LDL and glucose parameters in patients treated with
            psychotropic drugs
REFERENCE   6  (bases 1 to 934)
  AUTHORS   Swanton,E., Bishop,N. and Woodman,P.
  TITLE     Human rabaptin-5 is selectively cleaved by caspase-3 during
            apoptosis
  JOURNAL   J Biol Chem 274 (53), 37583-37590 (1999)
   PUBMED   10608812
REFERENCE   7  (bases 1 to 934)
  AUTHORS   Neve,R.L., Coopersmith,R., McPhie,D.L., Santeufemio,C., Pratt,K.G.,
            Murphy,C.J. and Lynn,S.D.
  TITLE     The neuronal growth-associated protein GAP-43 interacts with
            rabaptin-5 and participates in endocytosis
  JOURNAL   J Neurosci 18 (19), 7757-7767 (1998)
   PUBMED   9742146
REFERENCE   8  (bases 1 to 934)
  AUTHORS   Vitale,G., Rybin,V., Christoforidis,S., Thornqvist,P.,
            McCaffrey,M., Stenmark,H. and Zerial,M.
  TITLE     Distinct Rab-binding domains mediate the interaction of Rabaptin-5
            with GTP-bound Rab4 and Rab5
  JOURNAL   EMBO J 17 (7), 1941-1951 (1998)
   PUBMED   9524117
REFERENCE   9  (bases 1 to 934)
  AUTHORS   Xiao,G.H., Shoarinejad,F., Jin,F., Golemis,E.A. and Yeung,R.S.
  TITLE     The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5
            GTPase activating protein (GAP) in modulating endocytosis
  JOURNAL   J Biol Chem 272 (10), 6097-6100 (1997)
   PUBMED   9045618
REFERENCE   10 (bases 1 to 934)
  AUTHORS   Stenmark,H., Vitale,G., Ullrich,O. and Zerial,M.
  TITLE     Rabaptin-5 is a direct effector of the small GTPase Rab5 in
            endocytic membrane fusion
  JOURNAL   Cell 83 (3), 423-432 (1995)
   PUBMED   8521472
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB169027.1 and BC018742.1.
            
            On May 31, 2019 this sequence version replaced NM_001291582.1.
            
            Transcript Variant: This variant (4) lacks several 3' exons but
            contains an alternate 3' terminal exon, and it thus differs in its
            3' coding region and 3' UTR, compared to variant 1. The encoded
            isoform (4) has a distinct C-terminus and is significantly shorter
            than 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 :: BC018742.1, SRR7346977.515236.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DB169027.1         22-49
            29-934              BC018742.1         1-906
FEATURES             Location/Qualifiers
     source          1..934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..934
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /note="rabaptin, RAB GTPase binding effector protein 1"
                     /db_xref="GeneID:9135"
                     /db_xref="HGNC:HGNC:17677"
                     /db_xref="MIM:603616"
     exon            1..237
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..776
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /note="isoform 4 is encoded by transcript variant 4; rab
                     GTPase-binding effector protein 1; rabaptin-5;
                     neurocrescin; rabaptin-4; rabaptin-5alpha; renal carcinoma
                     antigen NY-REN-17"
                     /codon_start=1
                     /product="rab GTPase-binding effector protein 1 isoform 4"
                     /protein_id="NP_001278511.1"
                     /db_xref="GeneID:9135"
                     /db_xref="HGNC:HGNC:17677"
                     /db_xref="MIM:603616"
                     /translation="MAQPGPASQPDVSLQQRVAELEKINAEFLRAQQQLEQEFNQKRA
                     KFKELYLAKEEDLKRQNAVLQAAQDDLGHLRTQLWEAQAEMENIKAIATVSENTKQEA
                     IDEVKRQWREEVASLQAVMKETVRDYEHQFHLRLEQERTQWAQYRESAEREIADLRRR
                     LSEGQEEENLENEMKKDPIQDTILHLVVSP"
     exon            238..366
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /inference="alignment:Splign:2.1.0"
     exon            367..570
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /inference="alignment:Splign:2.1.0"
     exon            571..731
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /inference="alignment:Splign:2.1.0"
     exon            732..934
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      911..916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /note="hexamer: AATAAA"
     polyA_site      934
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /note="major polyA site"
ORIGIN      
        1 gtcaggatga ggaggcggag gtcggcggtc gggtccgtct ctgcccgcgg ctgtggcggc
       61 gccggcggat ccagccttag cggtttctct ctgggcggcg gcggcggcgg ctcggttgac
      121 gcctcctccg ccagctgagc ccgcgggagc ccaggacgcc gcttccccgc ccatccccgc
      181 tccccgaggc cggccgcctg gtcatggcgc agccgggccc ggcttcccag cctgacgttt
      241 ctcttcagca acgggtagca gaattggaaa aaattaatgc agaattttta cgtgcacaac
      301 agcagcttga acaagaattt aatcaaaaga gagcaaaatt taaggagtta tatttggcta
      361 aagaggagga tctgaagagg caaaatgcag tattacaagc tgcacaagat gatttgggac
      421 accttcgaac ccagctgtgg gaagctcaag cagagatgga gaatattaag gcgattgcca
      481 cagtctctga gaacaccaag caagaagcta tagatgaagt gaaaagacag tggagagaag
      541 aagttgcttc acttcaggct gttatgaaag aaacagttcg tgactatgag caccagttcc
      601 accttaggct ggagcaggag cgaacacagt gggcacagta tagagaatcc gcagagaggg
      661 aaatagctga tttaagaaga aggctgtctg aaggtcaaga ggaggaaaat ttagaaaatg
      721 aaatgaaaaa ggatcccatc caggatacca tattgcattt agttgtgtct ccttagatgc
      781 ctcttggctg tgacagtttc tcagattttt cttgttttta atgacctttc tgtcattttt
      841 taaagtgctt tttaaaggtt ttgtttatga tgacattcag cacttggaat tgtgaagtca
      901 tatttatatt aataaataac ttgatttgtg atca
//
