LOCUS       NM_005833               1671 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens Rab9 effector protein with kelch motifs (RABEPK),
            transcript variant 1, mRNA.
ACCESSION   NM_005833
VERSION     NM_005833.4
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 1671)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   2  (bases 1 to 1671)
  AUTHORS   Aivazian,D., Serrano,R.L. and Pfeffer,S.
  TITLE     TIP47 is a key effector for Rab9 localization
  JOURNAL   J Cell Biol 173 (6), 917-926 (2006)
   PUBMED   16769818
REFERENCE   3  (bases 1 to 1671)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   4  (bases 1 to 1671)
  AUTHORS   Ikonomov,O.C., Sbrissa,D., Mlak,K., Deeb,R., Fligger,J., Soans,A.,
            Finley,R.L. Jr. and Shisheva,A.
  TITLE     Active PIKfyve associates with and promotes the membrane attachment
            of the late endosome-to-trans-Golgi network transport factor Rab9
            effector p40
  JOURNAL   J Biol Chem 278 (51), 50863-50871 (2003)
   PUBMED   14530284
  REMARK    GeneRIF: p40 interaction with PIKfyve p40 os demonstrated; PIKfyve
            interaction and the subsequent PIKfyve-catalyzed p40
            phosphorylation anchor p40 to discrete membranes facilitating late
            endosome-to-TGN transport.
REFERENCE   5  (bases 1 to 1671)
  AUTHORS   Diaz,E., Schimmoller,F. and Pfeffer,S.R.
  TITLE     A novel Rab9 effector required for endosome-to-TGN transport
  JOURNAL   J Cell Biol 138 (2), 283-290 (1997)
   PUBMED   9230071
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445930.11, CX758286.1, BC053541.1 and AL354710.17.
            
            On May 17, 2019 this sequence version replaced NM_005833.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.395054.1, BC000503.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373538.8/ ENSP00000362639.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                AL445930.11        156699-156739
            42-236              CX758286.1         1-195
            237-1669            BC053541.1         5-1437
            1670-1671           AL354710.17        23168-23169
FEATURES             Location/Qualifiers
     source          1..1671
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..1671
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="Rab9 effector protein with kelch motifs"
                     /db_xref="GeneID:10244"
                     /db_xref="HGNC:HGNC:16896"
                     /db_xref="MIM:605962"
     exon            1..365
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     exon            366..424
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     CDS             372..1490
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="isoform a is encoded by transcript variant 1; Rab9
                     effector p40; 40 kDa Rab9 effector protein"
                     /codon_start=1
                     /product="rab9 effector protein with kelch motifs isoform
                     a"
                     /protein_id="NP_005824.2"
                     /db_xref="CCDS:CCDS6862.1"
                     /db_xref="GeneID:10244"
                     /db_xref="HGNC:HGNC:16896"
                     /db_xref="MIM:605962"
                     /translation="MKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGN
                     AKRGKVFIVGGANPNRSFSDVHTMDLGKHQWDLDTCKGLLPRYEHASFIPSCTPDRIW
                     VFGGANQSGNRNCLQVLNPETRTWTTPEVTSPPPSPRTFHTSSAAIGNQLYVFGGGER
                     GAQPVQDTKLHVFDANTLTWSQPETLGNPPSPRHGHVMVAAGTKLFIHGGLAGDRFYD
                     DLHCIDISDMKWQKLNPTGAAPAGCAAHSAVAMGKHVYIFGGMTPAGALDTMYQYHTE
                     EQHWTLLKFDTLLPPGRLDHSMCIIPWPVTCASEKEDSNSLTLNHEAEKEDSADKVMS
                     HSGDSHEESQTATLLCLVFGGMNTEGEIYDDCIVTVVD"
     exon            425..582
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     exon            583..735
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     exon            736..897
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1047
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1197
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1671
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1489..1494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="hexamer: AATAAA"
     polyA_site      1517
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="major polyA site"
     regulatory      1537..1542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="hexamer: AGTAAA"
     polyA_site      1568
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
     regulatory      1628..1633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="hexamer: AATAAT"
     regulatory      1644..1649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /note="hexamer: ACTAAA"
     polyA_site      1649
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
     polyA_site      1671
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
ORIGIN      
        1 ggagtcacgg ctcgcgactg gcctaagtcg ccgcaggtat tgcagtccgg ggctggaggg
       61 taggggcgag ggtccccgga taccgggtct atcacggtct cgggcaggga gtctgaatct
      121 tttaggggag tgggcccaag ccgggtgcaa agaacgggga agggccttcc ctggctccgt
      181 cccggccact ttgaccgaat cagcctgttc tttcccgacc ccgtctccta tcccctagaa
      241 ctgccacgtg gggatgagat ttgctgggct ggtagcggcg gctgctgcgg gaggtcccgc
      301 ccacgtgaag ccagcctaac tgagctctgg actttgggga cagctgtcag tggcctaggc
      361 cgcaggacac catgaagcaa ctgccagtct tggaacctgg agacaagccc aggaaagcaa
      421 catggtacac cttgactgtc cctggagaca gcccctgtgc tcgagttggc cacagctgtt
      481 catatttacc cccagttggt aatgccaaga gagggaaggt cttcattgtt gggggagcaa
      541 atccaaacag aagcttctca gacgtgcaca ccatggatct gggaaaacac cagtgggact
      601 tagatacctg caagggcctc ttgccccggt atgaacatgc tagcttcatt ccctcctgca
      661 cacctgaccg tatctgggta tttggaggtg ccaaccaatc aggaaatcga aattgtctac
      721 aagtcctgaa tcctgaaacc aggacgtgga ccacgccaga agtgaccagc cccccaccat
      781 ccccaagaac attccacaca tcatcggcag ccattggaaa ccagctatat gtctttgggg
      841 gcggagagag aggtgcccag cccgtgcagg acacgaagct gcatgtgttt gacgcaaaca
      901 ctctgacctg gtcacagcca gagacacttg gaaatcctcc atctccccgg catggtcatg
      961 tgatggtggc agcagggaca aagctcttca tccacggagg cttggcgggg gacagattct
     1021 atgatgacct ccactgcatt gatataagtg acatgaaatg gcagaagcta aatcccactg
     1081 gggctgctcc agcaggctgt gctgcccact cagctgtggc catgggaaaa catgtgtaca
     1141 tctttggtgg aatgactcct gcaggagcac tggacacaat gtaccagtat cacacagaag
     1201 agcagcattg gaccttgctt aaatttgata ctcttctacc ccctggacga ttggaccatt
     1261 ccatgtgtat cattccatgg ccagtgacgt gtgcttctga gaaagaagat tccaactctc
     1321 tcactctgaa ccatgaagct gagaaagagg attcagctga caaagtaatg agccacagtg
     1381 gtgactcaca tgaggaaagc cagactgcta cactgctctg tttggtgttt ggtgggatga
     1441 atacagaagg ggaaatctat gacgattgta ttgtgactgt agtggactaa taaaacccac
     1501 atttttatta cctgtcagtt actttcagaa tagttaagta aaacattagc tgttttatac
     1561 ctccaaaata tcttctgcat tatatatctg tttttctcct actttggtag gtgaagaaac
     1621 taatgcaaat aattcttatg tgcactaaac cttgctatat tgcctctcag a
//
