LOCUS       NM_007033               3028 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens retention in endoplasmic reticulum sorting receptor 1
            (RER1), mRNA.
ACCESSION   NM_007033
VERSION     NM_007033.5
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 3028)
  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   2  (bases 1 to 3028)
  AUTHORS   Chen,S., Zhang,J., Chen,J., Wang,Y., Zhou,S., Huang,L., Bai,Y.,
            Peng,C., Shen,B., Chen,H. and Tian,Y.
  TITLE     RER1 enhances carcinogenesis and stemness of pancreatic cancer
            under hypoxic environment
  JOURNAL   J Exp Clin Cancer Res 38 (1), 15 (2019)
   PUBMED   30630537
  REMARK    GeneRIF: The present study has demonstrated that RER1 enhances the
            progression of PC through promoting cell proliferation, migration
            and aggressiveness.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3028)
  AUTHORS   Hara,T., Maejima,I., Akuzawa,T., Hirai,R., Kobayashi,H.,
            Tsukamoto,S., Tsunoda,M., Ono,A., Yamakoshi,S., Oikawa,S. and
            Sato,K.
  TITLE     Rer1-mediated quality control system is required for neural stem
            cell maintenance during cerebral cortex development
  JOURNAL   PLoS Genet 14 (9), e1007647 (2018)
   PUBMED   30260951
  REMARK    GeneRIF: Study in knockout mice and genetically modified human HAP1
            cell line suggests that Rer1 maintains Notch signaling by
            maintaining sufficient expression of the gamma-secretase complex on
            the cell surface and regulating neural stem cell maintenance during
            cerebral cortex development.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3028)
  AUTHORS   Park,H.J., Ryu,D., Parmar,M., Giasson,B.I. and McFarland,N.R.
  TITLE     The ER retention protein RER1 promotes alpha-synuclein degradation
            via the proteasome
  JOURNAL   PLoS One 12 (9), e0184262 (2017)
   PUBMED   28877262
  REMARK    GeneRIF: RER1 is a novel and potential important mediator of
            elevated alphaSyn levels
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3028)
  AUTHORS   Hara,T., Hashimoto,Y., Akuzawa,T., Hirai,R., Kobayashi,H. and
            Sato,K.
  TITLE     Rer1 and calnexin regulate endoplasmic reticulum retention of a
            peripheral myelin protein 22 mutant that causes type 1A
            Charcot-Marie-Tooth disease
  JOURNAL   Sci Rep 4, 6992 (2014)
   PUBMED   25385046
  REMARK    GeneRIF: Charcot-Marie-Tooth disease-related PMP22 is trapped in
            the endoplasmic reticulum by calnexin-dependent retention and
            Rer1-mediated early Golgi retrieval systems and partly degraded by
            the Hrd1-mediated endoplasmic reticulum-associated degradation
            system.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3028)
  AUTHORS   Jurisch-Yaksi,N., Rose,A.J., Lu,H., Raemaekers,T., Munck,S.,
            Baatsen,P., Baert,V., Vermeire,W., Scales,S.J., Verleyen,D.,
            Vandepoel,R., Tylzanowski,P., Yaksi,E., de Ravel,T., Yost,H.J.,
            Froyen,G., Arrington,C.B. and Annaert,W.
  TITLE     Rer1p maintains ciliary length and signaling by regulating
            gamma-secretase activity and Foxj1a levels
  JOURNAL   J Cell Biol 200 (6), 709-720 (2013)
   PUBMED   23479743
  REMARK    GeneRIF: Rer1p depletion reduced ciliary length and function by
            increasing gamma-secretase complex assembly and activity and,
            consequently, enhancing Notch signaling as well as reducing Foxj1a
            expression.
REFERENCE   7  (bases 1 to 3028)
  AUTHORS   Tanabe,C., Maeda,T., Zou,K., Liu,J., Liu,S., Nakajima,T. and
            Komano,H.
  TITLE     The ubiquitin ligase synoviolin up-regulates amyloid beta
            production by targeting a negative regulator of gamma-secretase,
            Rer1, for degradation
  JOURNAL   J Biol Chem 287 (53), 44203-44211 (2012)
   PUBMED   23129766
  REMARK    GeneRIF: Synoviolin up-regulates amyloid beta production by
            targeting a negative regulator of gamma-secretase, Rer1, for
            degradation.
REFERENCE   8  (bases 1 to 3028)
  AUTHORS   Park,H.J., Shabashvili,D., Nekorchuk,M.D., Shyqyriu,E., Jung,J.I.,
            Ladd,T.B., Moore,B.D., Felsenstein,K.M., Golde,T.E. and Kim,S.H.
  TITLE     Retention in endoplasmic reticulum 1 (RER1) modulates amyloid-beta
            (Abeta) production by altering trafficking of gamma-secretase and
            amyloid precursor protein (APP)
  JOURNAL   J Biol Chem 287 (48), 40629-40640 (2012)
   PUBMED   23043097
  REMARK    GeneRIF: RER1 modulates amyloid-beta production by altering
            trafficking of gamma-secretase and amyloid precursor protein.
REFERENCE   9  (bases 1 to 3028)
  AUTHORS   Kaether,C., Scheuermann,J., Fassler,M., Zilow,S., Shirotani,K.,
            Valkova,C., Novak,B., Kacmar,S., Steiner,H. and Haass,C.
  TITLE     Endoplasmic reticulum retention of the gamma-secretase complex
            component Pen2 by Rer1
  JOURNAL   EMBO Rep 8 (8), 743-748 (2007)
   PUBMED   17668005
  REMARK    GeneRIF: Downregulation of Rer1 leads to increased surface
            localization of Pen2, whereas overexpression of Rer1 stabilizes
            unassembled Pen2. Rer1 is the first identified interaction partner
            of mammalian transmembrane-based retention/retrieval signals.
REFERENCE   10 (bases 1 to 3028)
  AUTHORS   Fullekrug,J., Boehm,J., Rottger,S., Nilsson,T., Mieskes,G. and
            Schmitt,H.D.
  TITLE     Human Rer1 is localized to the Golgi apparatus and complements the
            deletion of the homologous Rer1 protein of Saccharomyces cerevisiae
  JOURNAL   Eur J Cell Biol 74 (1), 31-40 (1997)
   PUBMED   9309388
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA409924.1, BC004965.1,
            AL513477.21 and BM682824.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_007033.4.
            
            Summary: The protein encoded by this gene is a multi-pass membrane
            protein that is localized to the golgi apparatus. It is involved in
            the retention of endoplasmic reticulum (ER) membrane proteins in
            the ER and retrieval of ER membrane proteins from the early Golgi
            compartment to facilitate gamma-secretase complex assembly.
            [provided by RefSeq, Oct 2009].
            
            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.
            
            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 :: SRR3476690.211887.1,
                                           SRR1803615.42637.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000605895.6/ ENSP00000475168.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-118               DA409924.1         67-184
            119-1343            BC004965.1         120-1344
            1344-2520           AL513477.21        41887-43063         c
            2521-3028           BM682824.1         25-532              c
FEATURES             Location/Qualifiers
     source          1..3028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..3028
                     /gene="RER1"
                     /note="retention in endoplasmic reticulum sorting receptor
                     1"
                     /db_xref="GeneID:11079"
                     /db_xref="HGNC:HGNC:30309"
                     /db_xref="MIM:620048"
     exon            1..118
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     exon            119..206
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..716
                     /gene="RER1"
                     /note="RER1 retention in endoplasmic reticulum 1 homolog"
                     /codon_start=1
                     /product="protein RER1"
                     /protein_id="NP_008964.3"
                     /db_xref="CCDS:CCDS41232.1"
                     /db_xref="GeneID:11079"
                     /db_xref="HGNC:HGNC:30309"
                     /db_xref="MIM:620048"
                     /translation="MSEGDSVGESVHGKPSVVYRFFTRLGQIYQSWLDKSTPYTAVRW
                     VVTLGLSFVYMIRVYLLQGWYIVTYALGIYHLNLFIAFLSPKVDPSLMEDSDDGPSLP
                     TKQNEEFRPFIRRLPEFKFWHAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCI
                     TMKRQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS"
     exon            207..311
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     exon            312..411
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     exon            412..490
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     exon            491..626
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     exon            627..3028
                     /gene="RER1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      874..879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RER1"
                     /note="hexamer: AAGAAA"
     polyA_site      896
                     /gene="RER1"
                     /note="major polyA site"
     regulatory      1325..1330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RER1"
                     /note="hexamer: AATATA"
     polyA_site      1343
                     /gene="RER1"
     regulatory      3008..3013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RER1"
                     /note="hexamer: AATAAA"
     polyA_site      3028
                     /gene="RER1"
                     /note="major polyA site"
ORIGIN      
        1 aagtgctcgc tgcagcttcc cggagccgga gcgcagcgcc tgcggccgcc cgtgccccgc
       61 cgtcctcctt cccgcggccg tgagggagac cgcggctcgg ccgtagcgga gctgcgagtt
      121 acagaatgtc tgaaggggac agtgtgggag aatccgtcca tgggaaacct tcggtggtgt
      181 acagattttt cacaagactt ggacagattt atcagtcctg gctagacaag tccacaccct
      241 acacggctgt gcgatgggtc gtgacactgg gcctgagctt tgtctacatg attcgagttt
      301 acctgctgca gggttggtac attgtgacct atgccttggg gatctaccat ctaaatcttt
      361 tcatagcttt tctttctccc aaagtggatc cttccttaat ggaagactca gatgacggtc
      421 cttcgctacc caccaaacag aacgaggaat tccgcccctt cattcgaagg ctcccagagt
      481 ttaaattttg gcatgcggct accaagggca tccttgtggc tatggtctgt actttcttcg
      541 acgctttcaa cgtcccggtg ttctggccga ttctggtgat gtacttcatc atgctcttct
      601 gtatcacgat gaagaggcaa atcaagcaca tgattaagta ccggtacatc ccgttcacac
      661 atgggaagag aaggtacaga ggcaaggagg atgccggcaa ggccttcgcc agctagaagc
      721 gggactgagg ctgcctcacg tgttgcaaga acagttttga gccattgtta acaatgcctt
      781 ttttcttcac ataaagtagt tgattacgag ggagtcaaat tttcttttta aaaaggagct
      841 tcaatgattt gtaactgaaa tatcaggttc tagaagaaac tggcgcttaa accaaatcgc
      901 atggatttct ttttcagtga cgttcaagtg tttctcacgg atggaattct agtcagctgc
      961 aggcgggaag ccaggcgggt ggagcccatg ggagcaaggg cgagtggccg gtccccgctg
     1021 tgccaggtgg gcaggcagga gcaaggcctg cgagggagga acgggccgct ccccgccagc
     1081 cgccttcccc agcagccgca ggtggtgcca gccactccac agagcccgag ggatgatcta
     1141 gcctgattcc tgcgtgtccg aaagaactta acgttttaaa ggtgattgtc aagtaactgt
     1201 gtggggttct aatgccagtt tcctaattcc atctcactgg agatgtttaa agttggcctc
     1261 tatcctaatg actcaaaact tggttcttaa ctaccatgat tgcttttgag ggcccggaat
     1321 tataaatata tattatattt taattgtttg agattatttt gacacatttc tttgatacgt
     1381 agagtgtttt gtttttaatt taaatctgtc ctcatgcaac cctccatgag gggcagcgaa
     1441 gctggcaggg agcagactgg ctttgtaggt tcagcactcg gccccccact gcgggagagg
     1501 cggaacccac ttgcatgtca gcgtttttga ttcgagaaaa gaaatactct caacgtttta
     1561 ccaagtgatt ttacctccac ctttactaaa gtctttacct aaaacatggc agtcgctgga
     1621 cacaggaaag cccacctttt gtttggcctt ttcgaaaggt gacccatatt gcacagcaga
     1681 acatcacagc tgtggtccca gatgagacac tgacatgcga gtgaaggcct ctcctcctgg
     1741 gccccgggct gcgcaggctc ctcactctgg gcggtgtttc ctgtctcaga attgacacgg
     1801 tgaatgctta gtgtctggat tttcttgtac cagtgtttac atatctgaca tcgagctcct
     1861 ctaagaggcc acgttcaagc ttgtgtgtcc ctgacccaag atagccagtg ctgctcccag
     1921 gtggtacttc tggtaccgtg ttgagacact tgggattctc agactgtgga caggagtgtt
     1981 tgtcattttt catactgttt tcttaataag cgctcaggcc taaggtgtga caggaagtcg
     2041 cacgcgcttg gccagagcac agtgaagcaa aggactgggt gctgatggat ggagccacgg
     2101 cggcatctgc ccacccggcc gcagccccca gtgcctctcc tggtggtcct cccagtctag
     2161 agggtcacgg cccccccgcc ctcctccgtc tctggcaagc tgaccttgac taacccagga
     2221 atacagggtc atcctcattc ctaagtaagt caaacagcaa gacatggttt gcgcgggtct
     2281 ttgccggaag ccggtcctgc tggccaggtg ttttacgtca gcagggaaat gtggcacacg
     2341 ccctcgaggc attttaacac tgcgcttcag gaaatctcaa gttccatctt gtgttagtaa
     2401 cgtacccaca ttttgctgga gttagtttat taaagatgcc tacggtgaac tctctggcgc
     2461 aggttaaatg cagttttgaa aacctggaaa catcaaatgg aggcgggaaa taggctgggg
     2521 ccgagctgag gggctgaaca cagcagtgac cgtgggtcag caggtcgcct gcccagcagg
     2581 ccccccagga gagggctcgg gcgcccctgg cagcccccat acccccagga cctggctcgt
     2641 gagtgcgtct gggtcaggaa gagacctctc tgtgcgtctc aggctgagat gcagatttct
     2701 gttttctaaa actggaagcg accttgacgt gtattgaagg tgtgtgtgcc aaatgcttcc
     2761 gacggaggtg ctggccttgg ttggtttctc tctgccccgt gtggtcatca agtcctgggg
     2821 gatgtgctct gcccagccgc cctcggggag agcagcgccg cctcccatgg ggccgtgggg
     2881 ctgctgttct cactgcactg gctgaagcaa cccgccagcc tccgtgcccc accccaccca
     2941 gcacgcactc attcagtcca ttgccttaac acaagcctga tggggctgtt ttctcacaat
     3001 ataaacgaat aaagtgtctt ctggccta
//
