LOCUS       NM_178314               3933 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens Rab interacting lysosomal protein like 1 (RILPL1),
            transcript variant 1, mRNA.
ACCESSION   NM_178314 XM_351877
VERSION     NM_178314.5
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 3933)
  AUTHORS   Yang,X., Zhang,D., Shen,S., Li,P., Li,M., Niu,J., Ma,D., Xu,D.,
            Li,S., Guo,X., Wang,Z., Zhao,Y., Ren,H., Ling,C., Wang,Y., Fan,Y.,
            Shen,J., Zhu,Y., Wang,D., Cui,L., Chen,L., Shi,C. and Dai,Y.
  TITLE     A large pedigree study confirmed the CGG repeat expansion of RILPL1
            Is associated with oculopharyngodistal myopathy
  JOURNAL   BMC Med Genomics 16 (1), 253 (2023)
   PUBMED   37864208
  REMARK    GeneRIF: A large pedigree study confirmed the CGG repeat expansion
            of RILPL1 Is associated with oculopharyngodistal myopathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3933)
  AUTHORS   Yu,J., Shan,J., Yu,M., Di,L., Xie,Z., Zhang,W., Lv,H., Meng,L.,
            Zheng,Y., Zhao,Y., Gang,Q., Guo,X., Wang,Y., Xi,J., Zhu,W., Da,Y.,
            Hong,D., Yuan,Y., Yan,C., Wang,Z. and Deng,J.
  TITLE     The CGG repeat expansion in RILPL1 is associated with
            oculopharyngodistal myopathy type 4
  JOURNAL   Am J Hum Genet 109 (3), 533-541 (2022)
   PUBMED   35148830
  REMARK    GeneRIF: The CGG repeat expansion in RILPL1 is associated with
            oculopharyngodistal myopathy type 4.
REFERENCE   3  (bases 1 to 3933)
  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   4  (bases 1 to 3933)
  AUTHORS   Lara Ordonez,A.J., Fernandez,B., Fdez,E., Romo-Lozano,M.,
            Madero-Perez,J., Lobbestael,E., Baekelandt,V., Aiastui,A., Lopez de
            Munain,A., Melrose,H.L., Civiero,L. and Hilfiker,S.
  TITLE     RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated
            centrosomal cohesion and ciliogenesis deficits
  JOURNAL   Hum Mol Genet 28 (21), 3552-3568 (2019)
   PUBMED   31428781
  REMARK    GeneRIF: Pathogenic LRRK2 causes the centrosomal accumulation not
            only of phosho-RAB8 but also of phospho-RAB10, and the effects on
            centrosomal cohesion are dependent on RAB8, RAB10 and RILPL1.
REFERENCE   5  (bases 1 to 3933)
  AUTHORS   Steger,M., Diez,F., Dhekne,H.S., Lis,P., Nirujogi,R.S., Karayel,O.,
            Tonelli,F., Martinez,T.N., Lorentzen,E., Pfeffer,S.R., Alessi,D.R.
            and Mann,M.
  TITLE     Systematic proteomic analysis of LRRK2-mediated Rab GTPase
            phosphorylation establishes a connection to ciliogenesis
  JOURNAL   Elife 6, e31012 (2017)
   PUBMED   29125462
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3933)
  AUTHORS   Gonzalez,M.C., Romero,J.M., Ingaramo,M.C., Munoz Sosa,C.J.,
            Curtino,J.A. and Carrizo,M.E.
  TITLE     Enhancement by GOSPEL protein of GAPDH aggregation induced by
            nitric oxide donor and its inhibition by NAD(.)
  JOURNAL   FEBS Lett 590 (14), 2210-2220 (2016)
   PUBMED   27282776
  REMARK    GeneRIF: NAD(+) inhibited both GAPDH aggregation and co-aggregation
            with GOSPEL, a hitherto undescribed effect of the coenzyme against
            the consequences of oxidative stress.
REFERENCE   7  (bases 1 to 3933)
  AUTHORS   Schaub,J.R. and Stearns,T.
  TITLE     The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane
            content
  JOURNAL   Mol Biol Cell 24 (4), 453-464 (2013)
   PUBMED   23264467
REFERENCE   8  (bases 1 to 3933)
  AUTHORS   Sen,N., Hara,M.R., Ahmad,A.S., Cascio,M.B., Kamiya,A., Ehmsen,J.T.,
            Agrawal,N., Hester,L., Dore,S., Snyder,S.H. and Sawa,A.
  TITLE     GOSPEL: a neuroprotective protein that binds to GAPDH upon
            S-nitrosylation
  JOURNAL   Neuron 63 (1), 81-91 (2009)
   PUBMED   19607794
  REMARK    Erratum:[Neuron. 2009 Sep 10;63(5):709. Aggrawal, Nishant
            [corrected to Agrawal, Nishant]]
REFERENCE   9  (bases 1 to 3933)
  AUTHORS   Wang,T., Wong,K.K. and Hong,W.
  TITLE     A unique region of RILP distinguishes it from its related proteins
            in its regulation of lysosomal morphology and interaction with Rab7
            and Rab34
  JOURNAL   Mol Biol Cell 15 (2), 815-826 (2004)
   PUBMED   14668488
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC055713.29, BX359997.2, BC089444.1, BX281699.1, BC080626.1 and
            AC145423.8.
            
            On Nov 22, 2018 this sequence version replaced NM_178314.4.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC089444.1, SRR1803613.19534.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376874.9/ ENSP00000366070.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC055713.29        74318-74318
            2-199               BX359997.2         1-198
            200-665             BC089444.1         1-466
            666-741             BX281699.1         318-393
            742-2173            BC089444.1         543-1974
            2174-2625           BC080626.1         1722-2173
            2626-3933           AC145423.8         110151-111458       c
FEATURES             Location/Qualifiers
     source          1..3933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3933
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /note="Rab interacting lysosomal protein like 1"
                     /db_xref="GeneID:353116"
                     /db_xref="HGNC:HGNC:26814"
                     /db_xref="MIM:614092"
     exon            1..546
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             238..1449
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RILP-like protein 1; GAPDH competitor of SIAH protein
                     enhances life"
                     /codon_start=1
                     /product="RILP-like protein 1 isoform 1"
                     /protein_id="NP_847884.2"
                     /db_xref="CCDS:CCDS45006.1"
                     /db_xref="GeneID:353116"
                     /db_xref="HGNC:HGNC:26814"
                     /db_xref="MIM:614092"
                     /translation="MEEERGSALAAESALEKNVAELTVMDVYDIASLVGHEFERVIDQ
                     HGCEAIARLMPKVVRVLEILEVLVSRHHVAPELDELRLELDRLRLERMDRIEKERKHQ
                     KELELVEDVWRGEAQDLLSQIAQLQEENKQLMTNLSHKDVNFSEEEFQKHEGMSERER
                     QVMKKLKEVVDKQRDEIRAKDRELGLKNEDVEALQQQQTRLMKINHDLRHRVTVVEAQ
                     GKALIEQKVELEADLQTKEQEMGSLRAELGKLRERLQGEHSQNGEEEPETEPVGEESI
                     SDAEKVAMDLKDPNRPRFTLQELRDVLHERNELKSKVFLLQEELAYYKSEEMEEENRI
                     PQPPPIAHPRTSPQPESGIKRLFSFFSRDKKRLANTQRNVHIQESFGQWANTHRDDGY
                     TEQGQEALQHL"
     exon            547..697
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..816
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            817..1038
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1211
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1304
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..3933
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1766..1771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /note="hexamer: AATACA"
     polyA_site      1784
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /note="major polyA site"
     regulatory      2144..2149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /note="hexamer: AACAAA"
     polyA_site      2175
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
     regulatory      3909..3914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
                     /note="hexamer: AATAAA"
     polyA_site      3933
                     /gene="RILPL1"
                     /gene_synonym="GOSPEL; OPDM4; RLP1"
ORIGIN      
        1 actcgggagc agctccgggc cgagccgggc gcccagaccc cgggcccgca caccccgcgc
       61 cgccgcccgt gcccgcgccc gcgcccgccg cccgctgccc gctgcgccct cgccccagcg
      121 cccgctgagc gcgcccgccc gcggcccagg ctgggcccgg ccggcccggc cctcgacagc
      181 ggcaagtttg ggagttgcac gagtttgcgg ggcgggggac aggccaggag ggtggccatg
      241 gaggaggagc gggggtcggc gctggcggcc gagtcggcgc tggagaagaa cgtggccgag
      301 ctgaccgtca tggacgtgta cgacatcgcg tcgcttgtgg gccacgagtt cgagcgggtc
      361 attgaccagc acggctgcga ggccatcgcg cgcctcatgc ccaaggtcgt gcgcgtcctg
      421 gagatcctgg aggtgctggt cagccgccac cacgtcgcgc ccgagctgga cgagctgcgc
      481 ctggagctgg accgcctgcg cctggagagg atggaccgca tcgagaagga gcgcaagcac
      541 cagaaggagc tggagctggt ggaggatgtg tggcgagggg aggcgcagga cctcctctcc
      601 cagatcgccc agctgcagga ggagaacaag cagctcatga ccaacctctc ccacaaggat
      661 gtcaatttct cagaggagga gttccagaag catgaaggca tgtcagagcg ggagcgacag
      721 gtgatgaaga agctgaagga ggtggtggac aaacaacgcg acgagatccg cgccaaggac
      781 agggagctgg gcctgaaaaa tgaggacgtt gaggctttac agcagcagca gacacggctg
      841 atgaagatca accatgacct tcggcaccgg gtcacggtgg tggaggccca ggggaaagcc
      901 ctgatcgaac agaaggtgga gctggaggca gacctgcaga ccaaggagca ggagatgggc
      961 agcctgcgag cagagctggg gaagttgcga gagaggctgc agggggagca cagccagaat
     1021 ggggaggagg agcctgagac ggagccggtg ggagaggaga gcatctccga cgcagagaag
     1081 gtggccatgg atctcaagga ccccaaccgc ccccggttca ccctgcagga gctgcgggac
     1141 gtgctgcacg agaggaacga gctcaagtcc aaggtgttct tgctgcagga ggagctggct
     1201 tactataaga gtgaagaaat ggaagaggaa aaccgaatac cccaaccccc acccatcgcc
     1261 cacccgagga cgtcccccca gccggagtcg ggcatcaagc gactgtttag cttcttctcc
     1321 cgagataaga agcgcctggc caacacacag agaaacgtgc acatccagga gtcctttgga
     1381 cagtgggcaa acacccaccg cgatgacggt tacacagagc aaggacagga agccctgcag
     1441 catctgtgac cttggcccat ctccaccctc caacctggac tgcccgccac cagcgcctgc
     1501 aaccgaactg cagcccaggg gtcattgctg cctcaagcct ctcggtgcag atgcaccctg
     1561 aaaactgacc cctcaaacag actgtctgat ttgaggatgg acattgaaaa actgacgcca
     1621 aactctaaag aaatgtttat ttatacccag ggctatcact gtttctaata gatgactctg
     1681 atcccgtagg atatatattt aataatccca caaacggagg ccagacttct gcgttaactt
     1741 cagtaacaca agcttcttta agccaaatac atcacttgcc actatcattg ctgtttgact
     1801 tgctttgtat aaaatgctat gtgtagaggt tttattatca caggtgacat agttcagcag
     1861 gaggcatgga agggctagat cttcattagt tacattcatg aaattgtgat ggtaacgtat
     1921 tatacagaat gtatccatca ggcagacaag gggtctgaag tcacaggctc agtagcccaa
     1981 ctcagacaca aagccacaga caatatggat gatggtcctc ttacccagaa actggagaca
     2041 actttgcagg caccctggct gcgttcctga taatgcctag agcatgtagc aatgttcaag
     2101 gcaggtgcct tggaatctgc tgtgagttat gcagtactaa ccaaacaaag ttgctaagga
     2161 tgagatgttg caacatttct tgtgtgcact tttttttcct gacatctttt tttcctttta
     2221 ggattcatta agtcatatac ttagtcccct gcaaagaaga agacagatgt cccagagcag
     2281 actgaaagcg gggcgtggga tcctaggcaa tgcaggaggg caggtggggg agctgtagca
     2341 gaacaagggt gctaggtggg aagctggctt ggggaccaca cgtctggctg actcacaggg
     2401 ctatagcagc agacagagag ccagatgctc tactgcaact ggtgagttgg aggcttgccc
     2461 acataacact gtctttctct ccacccgcca agcatccagg gcacagggct ggttgctcac
     2521 agattgagcg aggtagcacc tcctaccagc actcaagttt atcagggccg cgttctaaac
     2581 attctactga agtttgctaa gaaaccatta ggtgaggctg ggcacagtgg ctcacgcctg
     2641 ctatcccagc actttgggag gccgaggcag gtgggtcact tgaggtccgg agttcgagac
     2701 cagcttggcc aacacggtga aaccccatct ctacaaaaat acaaaaaaat tagccaggcg
     2761 aggtggtgca tgcctataat cccagctgct caggaggccg agacaggaga attccttgaa
     2821 cctaggaggc agaggttgca gtgagcctag atcgtgccat tgcactccag cctgggcgac
     2881 agagtgagac ttcatctaaa aaaaaaaaaa aaaagaaaga aagaaaccat caggtgaatt
     2941 tgcagaatct agaatggact ctgcttccag attgccgaaa aaaagaaatg atcagacagg
     3001 gtaattattg ctgcgttaga gcagtgtttc tcaaacctga gtgcccatta gaattattag
     3061 aatttattct caaagagtat agaagcaggt atactgatga atttctctcc cacccctggc
     3121 cacctttgtt gcccttccaa caggtaacca aaattgccag tttcttggtt atctttccta
     3181 aacactaaat gtctctcttt tttttgagat agtcttgctc tattgcccaa gccaaagtat
     3241 agtggcacca tctctgctca ctgcaacttc cgcctcttga gttcaagcaa ttctcatgcc
     3301 tgagcctccc aagtagctgg gactacatgt gtgtgccacc atacctgact aatttttgta
     3361 tttttagtaa agacggggtt tcaccatgtt ggccaggctg gtctcgaggt ctcgaactcc
     3421 tgacctcaag tgattcacct gccttggcct ctcaaagtgc tgggattaca ggtgtgagcc
     3481 actgtggctg gccttttttt tttttttttt tttggacaca gggtctcact ctgtcaccta
     3541 ggctggagta cagtggcact atcatagctc attgcagcta tgaacccctg ggctcaagca
     3601 atcctcccac ctcagcctcc caagtagctg gtactactga tgtgcaccac catgcccagc
     3661 taattatttt ttgtagagac caggtcttac tttgttgcct aagctggtct caaactcctg
     3721 ggctcaagtg atcctcacac cccagcctcc caaagtgctg ggaattcagg tgtgagccac
     3781 cgtgcctggc caaatgtcac ttttttgata agtcagcaga tccagctctt gagcacatca
     3841 gaggctagat aatcgggaca gaaaggaaaa atcaatccat cagaaagttt atacatgcaa
     3901 ttatgtaaaa taaaatcaag aacaaaaagc ata
//
