LOCUS       NM_018341               2160 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens ER membrane associated RNA degradation (ERMARD),
            transcript variant 1, mRNA.
ACCESSION   NM_018341 XM_376556
VERSION     NM_018341.3
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 2160)
  AUTHORS   Conti,V., Carabalona,A., Pallesi-Pocachard,E., Parrini,E.,
            Leventer,R.J., Buhler,E., McGillivray,G., Michel,F.J., Striano,P.,
            Mei,D., Watrin,F., Lise,S., Pagnamenta,A.T., Taylor,J.C., Kini,U.,
            Clayton-Smith,J., Novara,F., Zuffardi,O., Dobyns,W.B.,
            Scheffer,I.E., Robertson,S.P., Berkovic,S.F., Represa,A.,
            Keays,D.A., Cardoso,C. and Guerrini,R.
  TITLE     Periventricular heterotopia in 6q terminal deletion syndrome: role
            of the C6orf70 gene
  JOURNAL   Brain 136 (Pt 11), 3378-3394 (2013)
   PUBMED   24056535
  REMARK    GeneRIF: C6orf70 plays a major role in the control of neuronal
            migration; its haploinsufficiency or mutation causes
            periventricular nodular heterotopia.
REFERENCE   2  (bases 1 to 2160)
  AUTHORS   Anantharaman,V., Makarova,K.S., Burroughs,A.M., Koonin,E.V. and
            Aravind,L.
  TITLE     Comprehensive analysis of the HEPN superfamily: identification of
            novel roles in intra-genomic conflicts, defense, pathogenesis and
            RNA processing
  JOURNAL   Biol Direct 8, 15 (2013)
   PUBMED   23768067
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2160)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Fariss,R.N., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA650477.1, AK002014.1,
            AK294090.1, AA909435.1 and AL354892.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_018341.2.
            
            Summary: The protein encoded by this gene contains 2 transmembrane
            domains near the C-terminus and is localized in the endoplasmic
            reticulum. Knockout of this gene in developing rat brain showed
            that it may be involved in neuronal migration. Mutations in this
            gene are associated with periventricular nodular heterotopia-6
            (PVNH6). Alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.94012.1,
                                           SRR1660803.198135.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366773.8/ ENSP00000355735.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA650477.1         1-3
            4-548               AK002014.1         1-545
            549-863             AK294090.1         377-691
            864-2072            AK002014.1         861-2069
            2073-2144           AA909435.1         2-73                c
            2145-2160           AL354892.19        58787-58802
FEATURES             Location/Qualifiers
     source          1..2160
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     gene            1..2160
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /note="ER membrane associated RNA degradation"
                     /db_xref="GeneID:55780"
                     /db_xref="HGNC:HGNC:21056"
                     /db_xref="MIM:615532"
     exon            1..42
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..2073
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein C6orf70; endoplasmic reticulum
                     membrane-associated RNA degradation protein"
                     /codon_start=1
                     /product="endoplasmic reticulum membrane-associated RNA
                     degradation protein isoform 1"
                     /protein_id="NP_060811.1"
                     /db_xref="CCDS:CCDS34576.1"
                     /db_xref="GeneID:55780"
                     /db_xref="HGNC:HGNC:21056"
                     /db_xref="MIM:615532"
                     /translation="MEVLIGDPITTCLSPSVYDIICNLGFQLRENCDINSIVTQNGEV
                     CWKTITDCVSYTESEQGLDYWGSVRLLGPVCEAVHSHFLSLTKGQFEIRYAPWFQWTS
                     FPELFPEIFDALESLQSPAISLSLMKLTSCLERALGDVFLLIGKECPFLLRDLLSSEE
                     LAQVFSQSVMNVLKVFVGSPCGLNLRNVLWHGFASPEEIPPKYCSMMILLTAGLGQLL
                     KSYLQNTKLTLAHRSFISLTNLEDLIVFPDVTYEVLSVLEEVMMKSAFILKIMLPYWE
                     VALVKFKSHRFADCAILLLTQLETGLRNVFATLNRCPKRLLTAESTALYTTFDQILAK
                     HLNDGKINQLPLFLGEPAMEFLWDFLNHQEGPRIRDHLSHGEINLHEFSKETTNQLLA
                     FSLVLLLRFVDDCLLSVFKEKSAVELLISLAEGYSSRCHPVFQLKKQVLSCEESIRVW
                     ALLPFPEELTRQAVRLEDNSETNACHSLITKMTDELYHHMPENRCVLKDLDRLPTETW
                     PQLLRELCSTPVPTLFCPRIVLEVLVVLRSISEQCRRVSSQVTVASELRHRQWVERTL
                     RSRQRQNYLRMWSSIRLLSPVLSLILLLIALELVNIHAVCGKNAHEYQQYLKFVKSIL
                     QYTENLVAYTSYEKNKWNETINLTHTALLKMWTFSEKKQMLIHLAKKSTSKVLL"
     exon            43..211
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            212..351
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            352..453
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            454..543
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            544..641
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            642..778
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            779..893
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            894..996
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1026
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1095
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1269
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1353
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1430
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1556
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1557..1775
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..1889
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..2160
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /note="hexamer: AGTAAA"
     polyA_site      2076
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /note="major polyA site"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /note="hexamer: ATTAAA"
     polyA_site      2160
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
ORIGIN      
        1 gtcattcacg cgcgccgcag cggggcaccg gaagttatgg aggtattaat aggggaccct
       61 attaccacat gtctttctcc ctcagtgtat gatataattt gtaatcttgg gtttcaactc
      121 agagaaaatt gtgatatcaa tagcattgta actcagaatg gtgaagtatg ctggaaaaca
      181 atcacagact gtgtgagcta cacagagtca gagcagggtc tggattactg gggaagcgtg
      241 aggctgctgg gccctgtgtg tgaggctgtc cattcacatt tcttatctct gaccaagggg
      301 caatttgaaa ttcgatatgc accgtggttc cagtggacaa gttttccaga gttatttcct
      361 gaaatatttg atgccttgga aagtctacaa tctcctgcta tttctcttag cttaatgaaa
      421 ctgacatcgt gtctagaacg agccttgggt gatgtatttt tactgattgg gaaggaatgc
      481 ccctttcttt taagagatct gctttcatct gaggagcttg ctcaagtctt cagtcagtct
      541 gtgatgaatg tgctaaaagt cttcgttggc tctccgtgtg gtctcaacct gcgtaacgtc
      601 ttatggcatg ggtttgcgtc acctgaagaa attcctccaa aatactgttc aatgatgata
      661 ctgttgacgg caggattggg tcagttactg aagagttacc ttcaaaacac taaacttaca
      721 ttggcacatc gctctttcat atctcttaca aacctcgagg atttgattgt ttttcctgat
      781 gttacttatg aggtgctttc agtattagaa gaagtgatga tgaaatctgc ttttatatta
      841 aaaatcatgt taccatattg ggaagttgca ctggtcaagt tcaagtcaca caggtttgct
      901 gactgcgcca tattgttgct gacacaactg gagactggac ttaggaatgt ttttgccaca
      961 cttaacagat gtccaaaaag actcctgact gctgagtcaa cagctcttta taccaccttt
     1021 gatcaaatat tggcaaaaca cttgaatgat ggtaaaatca atcagcttcc tcttttcctt
     1081 ggagagcctg ctatggaatt tctctgggat ttcctgaacc atcaggaggg tccccgcata
     1141 agagatcatt taagccacgg ggagatcaac ttacatgaat tttcaaaaga aacaactaat
     1201 cagttgcttg cattttctct tgtactgcta ctcagattcg ttgatgactg tctgctatca
     1261 gtttttaagg aaaaatcagc cgtagaattg ttgattagtc ttgcagaagg ctatagttct
     1321 cgctgtcatc cggtttttca gcttaaaaaa caggtgctga gctgtgagga gagcatcagg
     1381 gtttgggctc tgctgccttt ccccgaagaa ctcactcggc aagccgtcag attagaagat
     1441 aattctgaaa caaatgcctg ccactctttg attacaaaaa tgacggatga gctgtatcac
     1501 catatgcctg agaatcgttg tgtgttaaag gacttggatc gtcttcctac tgagacgtgg
     1561 ccccagcttc tccgtgagct ctgcagcaca cctgttccca ccctgttctg ccccaggatt
     1621 gtgctggaag tgctggttgt gctccgaagc atcagcgaac agtgccgccg tgtgtccagc
     1681 caggtcaccg ttgcctcaga gctgagacac aggcagtggg tggaaaggac gctgcggtct
     1741 cgccagcggc agaactacct gcgtatgtgg agtagtatca gactactgtc ccctgtgctc
     1801 agcctgatac tgttactcat tgcgctggag ttggtcaaca ttcatgctgt ttgtgggaag
     1861 aatgcgcatg agtatcagca gtacctaaag tttgtaaagt cgatcttgca gtacacggag
     1921 aacctggtgg cttacaccag ttacgaaaag aacaagtgga atgaaactat caatcttaca
     1981 catacagctt tgttgaaaat gtggactttt agtgagaaga aacaaatgtt aatacattta
     2041 gccaagaaat ccacaagtaa agtactctta tgaaaacttg taagtcagga tgcttttaat
     2101 tttaacagat tttaacagcg tgtaaattaa aaacccaaag acagggtgga gttgagggtc
//
