LOCUS       NM_152321               1547 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens endoplasmic reticulum protein 27 (ERP27), transcript
            variant 1, mRNA.
ACCESSION   NM_152321
VERSION     NM_152321.4
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 1547)
  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   2  (bases 1 to 1547)
  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   3  (bases 1 to 1547)
  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 1547)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1547)
  AUTHORS   Kober,F.X., Koelmel,W., Kuper,J., Drechsler,J., Mais,C.,
            Hermanns,H.M. and Schindelin,H.
  TITLE     The crystal structure of the protein-disulfide isomerase family
            member ERp27 provides insights into its substrate binding
            capabilities
  JOURNAL   J Biol Chem 288 (3), 2029-2039 (2013)
   PUBMED   23192347
  REMARK    GeneRIF: ERp27 is able to distinguish between folded and unfolded
            substrates, only interacting with the latter and presenting them to
            for catalysis.
REFERENCE   6  (bases 1 to 1547)
  AUTHORS   Galligan,J.J. and Petersen,D.R.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1547)
  AUTHORS   Verweij,M.C., Koppers-Lalic,D., Loch,S., Klauschies,F., de la
            Salle,H., Quinten,E., Lehner,P.J., Mulder,A., Knittler,M.R.,
            Tampe,R., Koch,J., Ressing,M.E. and Wiertz,E.J.
  TITLE     The varicellovirus UL49.5 protein blocks the transporter associated
            with antigen processing (TAP) by inhibiting essential
            conformational transitions in the 6+6 transmembrane TAP core
            complex
  JOURNAL   J Immunol 181 (7), 4894-4907 (2008)
   PUBMED   18802093
REFERENCE   8  (bases 1 to 1547)
  AUTHORS   Alanen,H.I., Williamson,R.A., Howard,M.J., Hatahet,F.S., Salo,K.E.,
            Kauppila,A., Kellokumpu,S. and Ruddock,L.W.
  TITLE     ERp27, a new non-catalytic endoplasmic reticulum-located human
            protein disulfide isomerase family member, interacts with ERp57
  JOURNAL   J Biol Chem 281 (44), 33727-33738 (2006)
   PUBMED   16940051
  REMARK    GeneRIF: ERp27 is bound by ERp57 both in vitro and in vivo by a
            similar mechanism by which ERp57 binds calreticulin
REFERENCE   9  (bases 1 to 1547)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   10 (bases 1 to 1547)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056677.1, AY358536.1, BQ574479.1 and AA772096.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152321.3.
            
            Summary: This gene encodes a noncatalytic member of the protein
            disulfide isomerase (PDI) family of endoplasmic reticulum (ER)
            proteins. The canonical protein has an N-terminal signal sequence,
            two thioredoxin (TRX)-like domains and a C-terminal ER-retention
            sequence. Alternative splicing results in multiple transcript
            variants encoding distinct isoforms; some of which lack domains
            present in the canonical protein. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AK056677.1, AY358536.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153347 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266397.7/ ENSP00000266397.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AK056677.1         13-20
            9-1008              AY358536.1         1-1000
            1009-1057           BQ574479.1         501-549             c
            1058-1547           AA772096.1         12-501              c
FEATURES             Location/Qualifiers
     source          1..1547
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..1547
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /note="endoplasmic reticulum protein 27"
                     /db_xref="GeneID:121506"
                     /db_xref="HGNC:HGNC:26495"
                     /db_xref="MIM:610642"
     exon            1..123
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..851
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; endoplasmic reticulum protein 27 kDa; protein
                     disulfide isomerase family A, member 8; endoplasmic
                     reticulum resident protein 27; ER protein 27; inactive
                     protein disulfide-isomerase 27"
                     /codon_start=1
                     /product="endoplasmic reticulum resident protein 27
                     isoform 1 precursor"
                     /protein_id="NP_689534.1"
                     /db_xref="CCDS:CCDS8670.1"
                     /db_xref="GeneID:121506"
                     /db_xref="HGNC:HGNC:26495"
                     /db_xref="MIM:610642"
                     /translation="MEAAPSRFMFLLFLLTCELAAEVAAEVEKSSDGPGAAQEPTWLT
                     DVPAAMEFIAATEVAVIGFFQDLEIPAVPILHSMVQKFPGVSFGISTDSEVLTHYNIT
                     GNTICLFRLVDNEQLNLEDEDIESIDATKLSRFIEINSLHMVTEYNPVTVIGLFNSVI
                     QIHLLLIMNKASPEYEENMHRYQKAAKLFQGKILFILVDSGMKENGKVISFFKLKESQ
                     LPALAIYQTLDDEWDTLPTAEVSVEHVQNFCDGFLSGKLLKENRESEGKTPKVEL"
     exon            124..224
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            225..362
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            363..479
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            480..605
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            606..803
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            804..1547
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1523..1528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /note="hexamer: AATAAA"
     polyA_site      1547
                     /gene="ERP27"
                     /gene_synonym="C12orf46; PDIA8"
                     /note="major polyA site"
ORIGIN      
        1 agggttggag caggagcagg agagggacaa tggaagctgc cccgtccagg ttcatgttcc
       61 tcttatttct cctcacgtgt gagctggctg cagaagttgc tgcagaagtt gagaaatcct
      121 cagatggtcc tggtgctgcc caggaaccca cgtggctcac agatgtccca gctgccatgg
      181 aattcattgc tgccactgag gtggctgtca taggcttctt ccaggattta gaaataccag
      241 cagtgcccat actccatagc atggtgcaaa aattcccagg cgtgtcattt gggatcagca
      301 ctgattctga ggttctgaca cactacaaca tcactgggaa caccatctgc ctctttcgcc
      361 tggtagacaa tgaacaactg aatttagagg acgaagacat tgaaagcatt gatgccacca
      421 aattgagccg tttcattgag atcaacagcc tccacatggt gacagagtac aaccctgtga
      481 ctgtgattgg gttattcaac agcgtaattc agattcatct cctcctgata atgaacaagg
      541 cctccccaga gtatgaagag aacatgcaca gataccagaa ggcagccaag ctcttccagg
      601 ggaagattct ctttattctg gtggacagtg gtatgaaaga aaatgggaag gtgatatcat
      661 ttttcaaact aaaggagtct caactgccag ctttggcaat ttaccagact ctagatgacg
      721 agtgggatac actgcccaca gcagaagttt ccgtagagca tgtgcaaaac ttttgtgatg
      781 gattcctaag tggaaaattg ttgaaagaaa atcgtgaatc agaaggaaag actccaaagg
      841 tggaactctg acttctcctt ggaactacat atggccaagt atctacttta tgcaaagtaa
      901 aaaggcacaa ctcaaatctc agagacacta aacaacagga tcactaggcc tgccaaccac
      961 acacacacgc acgtgcacac acgcacgcac gcgtgcacac acacacgcac acacacacac
     1021 acacacagag cttcatttcc tgtcttaaaa tctcgttttc tcttcttcct tcttttaaat
     1081 ttcatatcct cactccctat ccaatttcct tcttatcgtg cattcatact ctgtaagccc
     1141 atctgtaaca cacctagatc aaggctttaa gagactcact gtgatgcctc tatgaaagag
     1201 aggcattcct agagaaagat tgttccaatt tgtcatttaa tatcaagttt gtatactgca
     1261 catgacttac acacaacata gttcctgctc ttttaaggtt acctaagggt tgaaactcta
     1321 ccttctttca taagcacatg tccgtctctg actcaggatc aaaaaccaaa ggatggtttt
     1381 aaacaccttt gtgaaattgt ctttttgcca gaagttaaag gctgtctcca agtccctgaa
     1441 ctcagcagaa atagaccatg tgaaaactcc atgcttggtt agcatctcca actccctatg
     1501 taaatcaaca acctgcataa taaataaaag gcaatcatgt tatagga
//
