LOCUS       NM_001031711            2903 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens endoplasmic reticulum-golgi intermediate compartment 1
            (ERGIC1), mRNA.
ACCESSION   NM_001031711
VERSION     NM_001031711.3
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 2903)
  AUTHORS   Marconi,C., Lemmens,L., Masclaux,F., Mattioli,F., Fluss,J.,
            Extermann,P., Mendez,P., Leuchter,R.H., Stathaki,E., Laurent,S.,
            Hammar,E., Vannier,A., Varvagiannis,K., Guipponi,M., Sloan-Bena,F.,
            Blouin,J.L., Abramowicz,M. and Fokstuen,S.
  TITLE     Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis
  JOURNAL   Clin Genet 100 (3), 329-333 (2021)
   PUBMED   34037256
  REMARK    GeneRIF: Bi-allelic loss of ERGIC1 causes relatively mild
            arthrogryposis.
REFERENCE   2  (bases 1 to 2903)
  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 2903)
  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 2903)
  AUTHORS   Yoo,W., Cho,E.B., Kim,S. and Yoon,J.B.
  TITLE     The E3 ubiquitin ligase MARCH2 regulates ERGIC3-dependent
            trafficking of secretory proteins
  JOURNAL   J Biol Chem 294 (28), 10900-10912 (2019)
   PUBMED   31142615
REFERENCE   5  (bases 1 to 2903)
  AUTHORS   Wang,F., Guan,X., Yang,J., He,W., Wei,Y., Chen,H. and Li,Y.
  TITLE     Differential Expression and Significance of Endoplasmic Reticulum
            Golgi Intermediate Compartment 1 in Precancerous Gastric Lesions
            and Gastric Cancer
  JOURNAL   Am J Med Sci 355 (3), 228-234 (2018)
   PUBMED   29549924
  REMARK    GeneRIF: ERGIC1 might play an inhibitory role in the initiation and
            progression of gastric cancer.
REFERENCE   6  (bases 1 to 2903)
  AUTHORS   Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Association of genetic variants with hemorrhagic stroke in Japanese
            individuals
  JOURNAL   Int J Mol Med 25 (4), 649-656 (2010)
   PUBMED   20198315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2903)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (bases 1 to 2903)
  AUTHORS   Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2903)
  AUTHORS   Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Association of gene polymorphisms with chronic kidney disease in
            Japanese individuals
  JOURNAL   Int J Mol Med 24 (4), 539-547 (2009)
   PUBMED   19724895
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2903)
  AUTHORS   Breuza,L., Halbeisen,R., Jeno,P., Otte,S., Barlowe,C., Hong,W. and
            Hauri,H.P.
  TITLE     Proteomics of endoplasmic reticulum-Golgi intermediate compartment
            (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies
            ERGIC-32, a new cycling protein that interacts with human Erv46
  JOURNAL   J Biol Chem 279 (45), 47242-47253 (2004)
   PUBMED   15308636
  REMARK    GeneRIF: ERGIC-32 functions as a modulator of the hErv41-hErv46
            complex by stabilizing hErv46
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB443891.1, AB033007.1,
            BC014490.1 and CD365875.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001031711.2.
            
            Summary: This gene encodes a cycling membrane protein which is an
            endoplasmic reticulum-golgi intermediate compartment (ERGIC)
            protein which interacts with other members of this protein family
            to increase their turnover. [provided by RefSeq, Jul 2008].
            
            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 :: BC012766.2, SRR1803616.107162.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393784.8/ ENSP00000377374.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DB443891.1         32-55
            25-2456             AB033007.1         1-2432
            2457-2739           BC014490.1         2363-2645
            2740-2903           CD365875.1         16-179              c
FEATURES             Location/Qualifiers
     source          1..2903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..2903
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="endoplasmic reticulum-golgi intermediate
                     compartment 1"
                     /db_xref="GeneID:57222"
                     /db_xref="HGNC:HGNC:29205"
                     /db_xref="MIM:617946"
     exon            1..183
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..1036
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="endoplasmic reticulum-golgi intermediate
                     compartment 32 kDa protein; endoplasmic reticulum-golgi
                     intermediate compartment (ERGIC) 1; ER-Golgi intermediate
                     compartment 32 kDa protein"
                     /codon_start=1
                     /product="endoplasmic reticulum-Golgi intermediate
                     compartment protein 1"
                     /protein_id="NP_001026881.1"
                     /db_xref="CCDS:CCDS34292.1"
                     /db_xref="GeneID:57222"
                     /db_xref="HGNC:HGNC:29205"
                     /db_xref="MIM:617946"
                     /translation="MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSEL
                     TGFITTEVVNELYVDDPDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMGRHEVGHID
                     NSMKIPLNNGAGCRFEGQFSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQ
                     VQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQRYSYQYTVANKEYVA
                     YSHTGRIIPAIWFRYDLSPITVKYTERRQPLYRFITTICAIIGGTFTVAGILDSCIFT
                     ASEAWKKIQLGKMH"
     exon            184..245
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            246..318
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            319..413
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            414..538
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            539..643
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            644..704
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            705..805
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            806..928
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     exon            929..2903
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2881..2886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="hexamer: ATTAAA"
     polyA_site      2903
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="major polyA site"
ORIGIN      
        1 acttcccggc agcgggaggc gagtggcgag tggcgagtgg cgagtgtcag gggggcggcc
       61 ggcgggggcg gggcggccgg aggaggcgtt ggcagcgggc tcggacccac gcggcgccgc
      121 ggcccgcctg gcctgcagcg ctcccacccc cggcggcggc acgatgccct ttgacttcag
      181 gaggtttgac atctacagga aggtgcccaa ggaccttacg cagccaacgt acaccggggc
      241 cattatctcc atctgctgct gcctcttcat cctcttcctc ttcctctcgg agctcaccgg
      301 atttataacg acagaagttg tgaacgagct ctatgtcgat gacccagaca aggacagcgg
      361 tggcaagatc gacgtcagtc tgaacatcag tttacccaat ctgcactgcg agttggttgg
      421 gcttgacatt caggatgaga tgggcaggca cgaagtgggc cacatcgaca actccatgaa
      481 gatcccgctg aacaatgggg caggctgccg cttcgagggg cagttcagca tcaacaaggt
      541 ccccggcaac ttccacgtgt ccacacacag tgccacagcc cagccacaga acccagacat
      601 gacgcatgtc atccacaagc tctcctttgg ggacacgcta caggtccaga acatccacgg
      661 agctttcaat gctctcgggg gagcagacag actcacctcc aaccccctgg cctcccacga
      721 ctacatcctg aagattgtgc ccacggttta tgaggacaag agtggcaagc agcggtactc
      781 ctaccagtac acggtggcca acaaggaata cgtcgcctac agccacacgg gccgcatcat
      841 ccctgcaatc tggttccgct acgacctcag ccccatcacg gtcaagtaca cagagagacg
      901 gcagccgctg tacagattca tcaccacgat ctgtgccatc attggcggga ccttcaccgt
      961 cgccggcatc ctggactcat gcatcttcac agcctctgag gcctggaaga agatccagct
     1021 gggcaagatg cattgacgcc acacccagcc taatggccga ggaccctggg catcgccagc
     1081 cttgcctcca gtgccctgtc tcctttggcc ctcaatctgg tcccaaatct ggctgtgtcc
     1141 caaagggtgt gtgggaagtg gggggaaagt agaggatggc tcgatgtttt gcagctacct
     1201 cttttccccg tgtttctttt tagacaaatt acactgcctg aagttgcagt tcccctttcc
     1261 ctggggagcc ccaagaacag agtcaggcaa ggggtgggga gtccagggat cttggggacc
     1321 cctcctagga gagctgcagt ctcttccctc aggggaacat cccagaatgc atatcgatca
     1381 gctctcagcc aggcttcgac aatctcgcag cccccactag gtggacacat taatgatttg
     1441 gtttctcccc tgggcagcca acctgcccca gaggcaccag acctgggctt tcagctttgg
     1501 gaccaggctg cccaaaggta ctcctttata cacccggcac cttccacgaa agatggtact
     1561 tcccaagcaa gcccctatga tttgtcacta tagatggaac cctgacttct gccccatccc
     1621 ttcctgccca acctagaacc caggcctcaa gtctttaccc cacccctttc ttgttcttcc
     1681 aagaagcaga tgcccagttg ctcagcagca gcggtagaga cttgaatctg cccaccagtc
     1741 acaaggcggg tcacagattc ctcttcctct cttctcctcg ttcctctgaa ccctccacca
     1801 atgtgcctca gcctgtgtgc tgtgtggcaa cagcattctg gttcccactg ccaagatctc
     1861 ccaccactct gctgggatct gcagtggcag ggagtggggg ttgtgtaaag gggaagtcat
     1921 cttttgagat ccagatagac atggtttgtg cacttacgtc cagatgggaa gcatccttcc
     1981 tgcaacccta aaataatcat gcagcctctc agacggacgc catcggtccc aaggccttag
     2041 gtggaggaag caaagcaggc caggcctgtc ctgtccgtgg acctctacct tctggactcc
     2101 ctacgggtgc agagcacttg ggtttctcta cagccatcgt ggcccacttg acactgtgct
     2161 cctccatcag ctggtcacat gccaacacgt tcccagcccc tgaggcagct ccagggtgcc
     2221 ccacctgctc ctgaggtggg tccctaccct gctgctcctc ttcatccttt cccttttgtc
     2281 ctgaaaggga ggagcaatgg tccaggcatt aattccaccc agggaatttt agctatgccc
     2341 tcatgtccca gggagagagc cacacgcctg ttttccattt atagcaagat tgtttgcata
     2401 cttttgtaat gaaggggagt gtccagtgga aggattttta aaattatctt atggatagct
     2461 caagtctctg ccatttgtaa tttttggctc taagctccga ttggagacgc ttctccttgt
     2521 gcatgtgagt tgactgatgt tgtgagtgta aatgcatttg gttatttctg gtatcggtgg
     2581 ccacttggat ggattttttt acattctgtt ccccagttac aggaaggagt ccctttggtg
     2641 tgtgaatatg tgtgcctgta gagggtgggg cagggtgggg tggggatgga aatgtgtggc
     2701 atgcacatga gttgaaattc ttttatgcat ttttttgaag aaaaaaaaaa aaacaactct
     2761 gaggacatag gggatgtcag tttcctatgg aagagacacc tctgacccgt tattcttata
     2821 atcaaaatct gaagggaaaa aaatgtttta gttctttccc cactcgttgg gttcaactag
     2881 attaaaaggc tgattttcag aaa
//
