LOCUS       NM_020711               3677 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens ermin (ERMN), transcript variant 2, mRNA.
ACCESSION   NM_020711
VERSION     NM_020711.3
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 3677)
  AUTHORS   Farhang,S., Sabaie,H., Gharesouran,J., Asadi,M.R., Arsang-Jang,S.,
            Ghafouri-Fard,S., Taheri,M. and Rezazadeh,M.
  TITLE     Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein
            Ligase 1 Genes in the Periphery of Patients with Schizophrenia
  JOURNAL   J Mol Neurosci 72 (2), 246-254 (2022)
   PUBMED   34676516
  REMARK    GeneRIF: Expression Analysis of Ermin and Listerin E3 Ubiquitin
            Protein Ligase 1 Genes in the Periphery of Patients with
            Schizophrenia.
REFERENCE   2  (bases 1 to 3677)
  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   3  (bases 1 to 3677)
  AUTHORS   Salek Esfahani,B., Gharesouran,J., Ghafouri-Fard,S., Talebian,S.,
            Arsang-Jang,S., Omrani,M.D., Taheri,M. and Rezazadeh,M.
  TITLE     Down-regulation of ERMN expression in relapsing remitting multiple
            sclerosis
  JOURNAL   Metab Brain Dis 34 (5), 1261-1266 (2019)
   PUBMED   31123898
  REMARK    GeneRIF: The results showed a significant decrease in ERMN
            expression in patients with relapsing-remitting multiple sclerosis
            compared with controls. The reduction in ERMN expression in
            leukocytes could be the cause of demyelinating process in RR-MS
            patients.
REFERENCE   4  (bases 1 to 3677)
  AUTHORS   Wang,T., Jia,L., Lv,B., Liu,B., Wang,W., Wang,F., Yang,G., Bu,X.,
            Yao,L. and Zhang,B.
  TITLE     Human Ermin (hErmin), a new oligodendrocyte-specific cytoskeletal
            protein related to epileptic seizure
  JOURNAL   Brain Res 1367, 77-84 (2011)
   PUBMED   20934411
  REMARK    GeneRIF: this study suggested a role for hErmin as a novel
            cytoskeleton-related oligodendroglial protein in human brain
            myelination and human epileptogenesis, and provide new evidence for
            the relationship between oligodendrocytes and epilepsy.
REFERENCE   5  (bases 1 to 3677)
  AUTHORS   Dick,D.M., Meyers,J., Aliev,F., Nurnberger,J. Jr., Kramer,J.,
            Kuperman,S., Porjesz,B., Tischfield,J., Edenberg,H.J., Foroud,T.,
            Schuckit,M., Goate,A., Hesselbrock,V. and Bierut,L.
  TITLE     Evidence for genes on chromosome 2 contributing to alcohol
            dependence with conduct disorder and suicide attempts
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 153B (6), 1179-1188 (2010)
   PUBMED   20468071
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3677)
  AUTHORS   Martins-de-Souza,D., Gattaz,W.F., Schmitt,A., Rewerts,C.,
            Maccarrone,G., Dias-Neto,E. and Turck,C.W.
  TITLE     Prefrontal cortex shotgun proteome analysis reveals altered calcium
            homeostasis and immune system imbalance in schizophrenia
  JOURNAL   Eur Arch Psychiatry Clin Neurosci 259 (3), 151-163 (2009)
   PUBMED   19165527
  REMARK    GeneRIF: Using shotgun mass spectrometry, we found this protein
            differentially expressed in the dorsolateral prefrontal cortex from
            patients with schizophrenia.
REFERENCE   7  (bases 1 to 3677)
  AUTHORS   Martins-de-Souza,D., Gattaz,W.F., Schmitt,A., Rewerts,C.,
            Marangoni,S., Novello,J.C., Maccarrone,G., Turck,C.W. and
            Dias-Neto,E.
  TITLE     Alterations in oligodendrocyte proteins, calcium homeostasis and
            new potential markers in schizophrenia anterior temporal lobe are
            revealed by shotgun proteome analysis
  JOURNAL   J Neural Transm (Vienna) 116 (3), 275-289 (2009)
   PUBMED   19034380
  REMARK    GeneRIF: This protein has been found differentially expressed in
            the temporal lobe from patients with schizophrenia.
REFERENCE   8  (bases 1 to 3677)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (bases 1 to 3677)
  AUTHORS   Brockschnieder,D., Sabanay,H., Riethmacher,D. and Peles,E.
  TITLE     Ermin, a myelinating oligodendrocyte-specific protein that
            regulates cell morphology
  JOURNAL   J Neurosci 26 (3), 757-762 (2006)
   PUBMED   16421295
REFERENCE   10 (bases 1 to 3677)
  AUTHORS   Zhang,B., Cao,Q., Guo,A., Chu,H., Chan,Y.G., Buschdorf,J.P.,
            Low,B.C., Ling,E.A. and Liang,F.
  TITLE     Juxtanodin: an oligodendroglial protein that promotes cellular
            arborization and 2',3'-cyclic nucleotide-3'-phosphodiesterase
            trafficking
  JOURNAL   Proc Natl Acad Sci U S A 102 (32), 11527-11532 (2005)
   PUBMED   16051705
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC343891.1, AB033015.1 and DB576268.1.
            
            On Jun 2, 2019 this sequence version replaced NM_020711.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding region compared to variant 1. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 2, 3, and
            4 all encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.215049.1,
                                           SRR1803615.67765.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000410096.6/ ENSP00000387047.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-134               DC343891.1         111-244
            135-3669            AB033015.1         1-3535
            3670-3677           DB576268.1         468-475
FEATURES             Location/Qualifiers
     source          1..3677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..3677
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /note="ermin"
                     /db_xref="GeneID:57471"
                     /db_xref="HGNC:HGNC:29208"
                     /db_xref="MIM:610072"
     exon            1..423
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /inference="alignment:Splign:2.1.0"
     CDS             183..1037
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /note="isoform b is encoded by transcript variant 2;
                     juxtanodin; ermin, ERM-like protein"
                     /codon_start=1
                     /product="ermin isoform b"
                     /protein_id="NP_065762.1"
                     /db_xref="CCDS:CCDS46431.1"
                     /db_xref="GeneID:57471"
                     /db_xref="HGNC:HGNC:29208"
                     /db_xref="MIM:610072"
                     /translation="MTDVPATFTQAECNGDKPPENGQQTITKISEELTDVDSPLPHYR
                     VEPSLEGALTKGSQEERRKLQGNMLLNSSMEDKMLKENPEEKLFIVHKAITDLSLQET
                     SADEMTFREGHQWEKIPLSGSNQEIRRQKERITEQPLKEEEDEDRKNKGHQAAEIEWL
                     GFRKPSQADMLHSKHDEEQKVWDEEIDDDDDDNCNNDEDEVRVIEFKKKHEEVSQFKE
                     EGDASEDSPLSSASSQAVTPDEQPTLGKKSDISRNAYSRYNTISYRKIRKGNTKQRID
                     EFESMMHL"
     exon            424..516
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /inference="alignment:Splign:2.1.0"
     exon            517..3677
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3645..3650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /note="hexamer: AATAAA"
     polyA_site      3677
                     /gene="ERMN"
                     /gene_synonym="JN; KIAA1189"
                     /note="major polyA site"
ORIGIN      
        1 aatctctgtc tggatacttt taggaaaaga accttgttat tatgtactaa agtgaataat
       61 ttgtgctctt agagtaggag ttggaactat aggacttgaa ggcaagagca ggtatcttat
      121 caaggatcta ctcactcagt ttccctaaag ctctctctcc agatcggatt caaccgcaca
      181 tcatgacaga tgttccggct acatttaccc aggctgagtg taatggggat aaaccacctg
      241 aaaacggtca acaaacaatc actaaaatca gtgaggaatt gactgatgtg gacagccccc
      301 tgccacacta cagggtagaa cccagtctgg aaggtgcact caccaaagga agtcaggagg
      361 aaagaagaaa attacaaggg aacatgctgc tcaactcatc catggaggac aaaatgctaa
      421 aagaaaaccc agaagagaaa ctctttattg ttcataaggc tatcacagat ctttctctcc
      481 aagaaactag tgctgatgaa atgacattca gagaagggca tcagtgggag aagattcctc
      541 tgagtggcag taaccaggaa ataagaagac agaaggagag gattactgag cagcctctca
      601 aagaggaaga agatgaggac aggaagaaca aaggtcacca ggcagctgaa attgaatggc
      661 tgggatttcg aaaacctagc caagctgaca tgttacattc taaacatgat gaggagcaga
      721 aggtttggga tgaagaaatt gatgatgatg atgatgataa ttgcaataat gatgaagatg
      781 aagttcgagt gatagaattt aagaaaaaac atgaagaggt ttctcaattt aaagaggaag
      841 gtgatgcaag tgaggactcc ccactgagca gtgccagttc ccaagctgtg acacctgatg
      901 agcagccaac cttagggaag aagagtgata tctccagaaa tgcttattcc agatacaata
      961 caatatccta tcggaaaatc agaaagggaa ataccaagca aagaattgat gaattcgagt
     1021 ctatgatgca tttataaact aactggaact gagaaattct catgcccact aaaggaaaag
     1081 ctaattctat tgccccaggg tgcatatttc tatgccttat ttgagttatc acttggaggg
     1141 aggtggaagt tgactctctt tttcactgta gaataatgtg gaaataaccc tagataaaaa
     1201 ttcagtctga taacctcaaa tcaaaaagct ttaaataaat tcttgggcat ttatctttta
     1261 aaacttcact aatatagcat tgtgtgataa gcactaagca gtcagtcccc tgggggaatc
     1321 tggcataatt cggctataaa tgtagcaatg cttggaaagg tagtcatcaa atgagactat
     1381 ttgaggggac tatttgaaat gattctggta tttcttttgg tatctttctt cctgtacatt
     1441 ggagtgatgg aaagtctggt attaaaacct ctcttacttt taaacttgat tttgcagact
     1501 ctggcaataa gccttccaaa attctgtgcc ttttctatta tcaccaaaca atatgttaag
     1561 tggctttcct tggcatctac agagaaaaca ttctatagcc ctccttccta ggtgttacca
     1621 ttcactgaat cttctctcag agggagatga gcaattgtca gtcaggataa ttctgtttgc
     1681 taaatgttgc ctttatgctt tcaaactgaa ttaaacccat tgtgaggttg acactgggag
     1741 gggctagaag attggtgggc agcagactaa agagttatgt tggatagttt tatttctgtg
     1801 gctgaaaata aaatcttgtc tagcacagtt aaagtcatta aaaataaaaa tgacagcttt
     1861 agcacaattt taagaaaatg cccctctcta ttaccacatt ttctcttatt aacagtatct
     1921 cagaataatt ttctttcctt agaaacctga gagaatgcta gtcataactg tactagttac
     1981 tatgaaaatg gaaataatta tcttagaata ttttcaaagt agagcgtgag catgtatttt
     2041 tagtgggaga gctctgatag ttgttgggaa tatataattt actggacctc agcccaaatc
     2101 aagatgctta aaattgtact tgtggagctt cactcaaacc aatgtgtcaa ataacgtatt
     2161 gaatatttat gaaaagagag actatattta tattcttaga tagtttgttc cacaattttt
     2221 catttcatgc ttccatatat attaccctga actttctatc accacagata aagattttgt
     2281 tttgccctgc aaataaaaag acaattcctt attgtctgaa tgtaatacag tcttcattgt
     2341 actattcaac cctttgtttc tttctttttc attttgtgaa aaactccatg ttagtcctct
     2401 tagatgactg cttatttatg tgtaacataa atcccacata ttctaatgac aacttcttta
     2461 atccttccgg gtcatatatt atatttccat agtatcacat actattattt agttgtttac
     2521 aagactccaa tttgaattca ggattacagt gctcctttca ttctttcaaa cagataacat
     2581 aaaagttctg ttaccctcat tctatacaac ctatggattt catgtgttac aatatcagtt
     2641 tccagaataa agtgagggaa atcaggtctt tattgataaa gttagggaga agattgatgc
     2701 aataggacaa tttccaattt aatttagatc ctctaatctt tctacatgga caagctgttt
     2761 tcttttctag gttactgata acccctacaa ttttcgactt aacttcaaaa cacagtattg
     2821 tgttatctat cacataacag gaccatgttt ttaacctacc atcaagagcc tgtattttga
     2881 gttattccaa cagagatgat ggattcctgt agaactagag gtgggtgacc tatggttatg
     2941 tggcacggca aagcaagtac ctcttaaggg actctaatat atgctaacgc tggtcctctt
     3001 agctctgtgc tctcaccaga caatgaatga actatgaaag atttagtcaa cagaaactat
     3061 tttagggtat gtttagttgg taaatgcttc atgttcatgg atgacacaat gtttttgcaa
     3121 aaaaaccctg aaactattct ttggcattgg tgtccatggc cctataccgc catcttacac
     3181 gaaagccaca gagttgaaag ccacagagtt gaaagccaca gagttaagtg acctcaggta
     3241 acataatggt gatggttggc catttgagtc tttgtaacct aggaaagaca aaggtctgat
     3301 tcagattgca tgggggattt ttaacatatt tgaaactcag ggggaacatg attaagaaca
     3361 caaactggta gctacacatg aaggtttact tgagcttttg tgattcaaag ttcaggggtg
     3421 gtaaggactc tggtaccagg gaagagggag aattaattta ttgtgcaaat gctggtattt
     3481 cttacatgat tttttgtttt cctctgttgc tagataaata gaaactaata atagctctat
     3541 ttctctgcca atataaaatc tacctttcat ataatgctac attgaaggca cagaatttgc
     3601 taccatctct ctctccccct acctaccaaa ctatccacaa tttaaataaa gaactgctgt
     3661 gtctgactta ctctcaa
//
