EMARD_RAT
ID EMARD_RAT Reviewed; 678 AA.
AC Q3B8R1; D3ZU62;
DT 19-FEB-2014, integrated into UniProtKB/Swiss-Prot.
DT 19-FEB-2014, sequence version 2.
DT 03-AUG-2022, entry version 61.
DE RecName: Full=Endoplasmic reticulum membrane-associated RNA degradation protein;
DE Short=ER membrane-associated RNA degradation protein;
GN Name=Ermard;
OS Rattus norvegicus (Rat).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Rattus.
OX NCBI_TaxID=10116;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Brown Norway;
RX PubMed=15057822; DOI=10.1038/nature02426;
RA Gibbs R.A., Weinstock G.M., Metzker M.L., Muzny D.M., Sodergren E.J.,
RA Scherer S., Scott G., Steffen D., Worley K.C., Burch P.E., Okwuonu G.,
RA Hines S., Lewis L., Deramo C., Delgado O., Dugan-Rocha S., Miner G.,
RA Morgan M., Hawes A., Gill R., Holt R.A., Adams M.D., Amanatides P.G.,
RA Baden-Tillson H., Barnstead M., Chin S., Evans C.A., Ferriera S.,
RA Fosler C., Glodek A., Gu Z., Jennings D., Kraft C.L., Nguyen T.,
RA Pfannkoch C.M., Sitter C., Sutton G.G., Venter J.C., Woodage T., Smith D.,
RA Lee H.-M., Gustafson E., Cahill P., Kana A., Doucette-Stamm L.,
RA Weinstock K., Fechtel K., Weiss R.B., Dunn D.M., Green E.D.,
RA Blakesley R.W., Bouffard G.G., De Jong P.J., Osoegawa K., Zhu B., Marra M.,
RA Schein J., Bosdet I., Fjell C., Jones S., Krzywinski M., Mathewson C.,
RA Siddiqui A., Wye N., McPherson J., Zhao S., Fraser C.M., Shetty J.,
RA Shatsman S., Geer K., Chen Y., Abramzon S., Nierman W.C., Havlak P.H.,
RA Chen R., Durbin K.J., Egan A., Ren Y., Song X.-Z., Li B., Liu Y., Qin X.,
RA Cawley S., Cooney A.J., D'Souza L.M., Martin K., Wu J.Q.,
RA Gonzalez-Garay M.L., Jackson A.R., Kalafus K.J., McLeod M.P.,
RA Milosavljevic A., Virk D., Volkov A., Wheeler D.A., Zhang Z., Bailey J.A.,
RA Eichler E.E., Tuzun E., Birney E., Mongin E., Ureta-Vidal A., Woodwark C.,
RA Zdobnov E., Bork P., Suyama M., Torrents D., Alexandersson M., Trask B.J.,
RA Young J.M., Huang H., Wang H., Xing H., Daniels S., Gietzen D., Schmidt J.,
RA Stevens K., Vitt U., Wingrove J., Camara F., Mar Alba M., Abril J.F.,
RA Guigo R., Smit A., Dubchak I., Rubin E.M., Couronne O., Poliakov A.,
RA Huebner N., Ganten D., Goesele C., Hummel O., Kreitler T., Lee Y.-A.,
RA Monti J., Schulz H., Zimdahl H., Himmelbauer H., Lehrach H., Jacob H.J.,
RA Bromberg S., Gullings-Handley J., Jensen-Seaman M.I., Kwitek A.E.,
RA Lazar J., Pasko D., Tonellato P.J., Twigger S., Ponting C.P., Duarte J.M.,
RA Rice S., Goodstadt L., Beatson S.A., Emes R.D., Winter E.E., Webber C.,
RA Brandt P., Nyakatura G., Adetobi M., Chiaromonte F., Elnitski L.,
RA Eswara P., Hardison R.C., Hou M., Kolbe D., Makova K., Miller W.,
RA Nekrutenko A., Riemer C., Schwartz S., Taylor J., Yang S., Zhang Y.,
RA Lindpaintner K., Andrews T.D., Caccamo M., Clamp M., Clarke L., Curwen V.,
RA Durbin R.M., Eyras E., Searle S.M., Cooper G.M., Batzoglou S., Brudno M.,
RA Sidow A., Stone E.A., Payseur B.A., Bourque G., Lopez-Otin C., Puente X.S.,
RA Chakrabarti K., Chatterji S., Dewey C., Pachter L., Bray N., Yap V.B.,
RA Caspi A., Tesler G., Pevzner P.A., Haussler D., Roskin K.M., Baertsch R.,
RA Clawson H., Furey T.S., Hinrichs A.S., Karolchik D., Kent W.J.,
RA Rosenbloom K.R., Trumbower H., Weirauch M., Cooper D.N., Stenson P.D.,
RA Ma B., Brent M., Arumugam M., Shteynberg D., Copley R.R., Taylor M.S.,
RA Riethman H., Mudunuri U., Peterson J., Guyer M., Felsenfeld A., Old S.,
RA Mockrin S., Collins F.S.;
RT "Genome sequence of the Brown Norway rat yields insights into mammalian
RT evolution.";
RL Nature 428:493-521(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=24056535; DOI=10.1093/brain/awt249;
RA Conti V., Carabalona A., Pallesi-Pocachard E., Parrini E., Leventer R.J.,
RA Buhler E., McGillivray G., Michel F.J., Striano P., Mei D., Watrin F.,
RA Lise S., Pagnamenta A.T., Taylor J.C., Kini U., Clayton-Smith J.,
RA Novara F., Zuffardi O., Dobyns W.B., Scheffer I.E., Robertson S.P.,
RA Berkovic S.F., Represa A., Keays D.A., Cardoso C., Guerrini R.;
RT "Periventricular heterotopia in 6q terminal deletion syndrome: role of the
RT C6orf70 gene.";
RL Brain 136:3378-3394(2013).
CC -!- FUNCTION: May play a role in neuronal migration during embryonic
CC development. {ECO:0000269|PubMed:24056535}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3B8R1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3B8R1-2; Sequence=VSP_053709, VSP_053710;
CC -!- DEVELOPMENTAL STAGE: In the developing neocortex, expression is
CC detected at embryonic day 12 (E12) and peaks at E14. Then expression
CC levels decrease until postnatal day 5 (P5) and increase again at least
CC until P30. {ECO:0000269|PubMed:24056535}.
CC -!- DISRUPTION PHENOTYPE: RNAi-mediated knockdown of the protein, performed
CC in utero by electroporation in lateral ventricle of E15 embryos,
CC results in a massive neuronal migration defect and in the development
CC of heterotopic nodules along the walls of the lateral ventricles. At
CC E20, a significant arrest of cells within the ventricular zone is
CC observed, while, at this stage in control embryos, cells have reached
CC the cortical plate. {ECO:0000269|PubMed:24056535}.
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DR EMBL; AABR06002662; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC105837; AAI05838.1; -; mRNA.
DR RefSeq; XP_002728706.1; XM_002728660.5. [Q3B8R1-1]
DR AlphaFoldDB; Q3B8R1; -.
DR STRING; 10116.ENSRNOP00000056590; -.
DR PaxDb; Q3B8R1; -.
DR Ensembl; ENSRNOT00000059845; ENSRNOP00000056590; ENSRNOG00000015230. [Q3B8R1-1]
DR GeneID; 361485; -.
DR KEGG; rno:361485; -.
DR UCSC; RGD:1309374; rat. [Q3B8R1-1]
DR CTD; 55780; -.
DR RGD; 1309374; Ermard.
DR eggNOG; ENOG502QS21; Eukaryota.
DR GeneTree; ENSGT00390000001024; -.
DR HOGENOM; CLU_026135_0_0_1; -.
DR InParanoid; Q3B8R1; -.
DR OMA; ISAQCHQ; -.
DR OrthoDB; 1558288at2759; -.
DR PRO; PR:Q3B8R1; -.
DR Proteomes; UP000002494; Chromosome 1.
DR Bgee; ENSRNOG00000015230; Expressed in spleen and 20 other tissues.
DR Genevisible; Q3B8R1; RN.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR025209; DUF4209.
DR InterPro; IPR039635; ERMARD.
DR PANTHER; PTHR31701; PTHR31701; 1.
DR Pfam; PF13910; DUF4209; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Endoplasmic reticulum;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..678
FT /note="Endoplasmic reticulum membrane-associated RNA
FT degradation protein"
FT /id="PRO_0000425451"
FT TRANSMEM 390..410
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 577..597
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 249..288
FT /note="VTDKVLSALETVMTKSSFLLKIMLPYWELAVSKFKSHRFA -> KFYISHPP
FT YSVFTEVFAQFVSSIRLGFLVKYSLAIAKMAL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053709"
FT VAR_SEQ 289..678
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053710"
SQ SEQUENCE 678 AA; 76562 MW; 259DFCD77E91ED6F CRC64;
MEILTGDSIT TCLSPLVHDL ICNLGFELTE ICDINSIVTQ NGEVRWKAIT DRVSYAELGH
SLDYRQSVQR LGPVCEAIHL HISSLSRAQF ETQYSPWYQW TTSPELFLEI YDALESSQSA
AISLSVMKLA SCLERALGDV FLLIGNECPF LLRDLLASAE LAHVFGHAVM DVLKVFIGSP
CGLNLRNVLW HGFASPQDIP PKYCSALLLL TAGLGQLLKS YLHHTKVQLA HRPFVTLTNL
EDVIVFPGVT DKVLSALETV MTKSSFLLKI MLPYWELAVS KFKSHRFADC TMLLLSQLEA
GLRRVFATVN KCPDRLLTAE STILYTTFDE ILAKHMSDGS INQLPCFLGE PAMDFLWDFL
NYQEGPRIRD RLSHGEINIR EFPKAAASQL LTFCLVLLLR FTEEDTLSEL KEEAAIQLLV
SLAERYRSRC HPAFQLQKQV LSCEKSLRMW PVLPLPEECC QEAGRSEGNS EACACNSLIS
KILCELCHYL PASACAINGL DGLPSEKWSQ LLNELCNTRI PTLFCPKIVL EVLVVLRGIS
SQCQRVSDQV IASLQLRHRQ WVEHTLRSRQ RQNYVRMLSS VGLLCPVLSL ILLLLALELV
SVHAVHGKDA QERQQYLRFL KLILQYTENL VAYTSRQKNK WNEAVSLTRA VLLRIWTFSE
KKQMLIHLTK NTNKVDTG