EMARD_HUMAN
ID EMARD_HUMAN Reviewed; 678 AA.
AC Q5T6L9; B4DFH0; F8WAF1; Q3ZCS8; Q5T6L8; Q9NUT5; Q9NVU2;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Endoplasmic reticulum membrane-associated RNA degradation protein;
DE Short=ER membrane-associated RNA degradation protein;
GN Name=ERMARD; Synonyms=C6orf70;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 36-678 (ISOFORM 3), AND VARIANT GLY-540.
RC TISSUE=Brain cortex, Placenta, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
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 [4]
RP VARIANT PVNH6 ASN-377, FUNCTION, AND SUBCELLULAR LOCATION.
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
CC {ECO:0000269|PubMed:24056535}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:24056535}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5T6L9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T6L9-2; Sequence=VSP_026951;
CC Name=3;
CC IsoId=Q5T6L9-3; Sequence=VSP_026952;
CC Name=4;
CC IsoId=Q5T6L9-4; Sequence=VSP_053708;
CC -!- DISEASE: Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544]: A
CC form of periventricular nodular heterotopia, a disorder resulting from
CC a defect in the pattern of neuronal migration in which ectopic
CC collections of neurons lie along the lateral ventricles of the brain or
CC just beneath, contiguously or in isolated patches. PVNH6 results in
CC delayed psychomotor development, delayed speech, strabismus, and onset
CC of seizures with hypsarrhythmia in early infancy.
CC {ECO:0000269|PubMed:24056535}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH44812.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91653.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK001369; BAA91653.1; ALT_INIT; mRNA.
DR EMBL; AK002014; BAA92035.1; -; mRNA.
DR EMBL; AK294090; BAG57431.1; -; mRNA.
DR EMBL; AL354892; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044812; AAH44812.1; ALT_SEQ; mRNA.
DR CCDS; CCDS34576.1; -. [Q5T6L9-1]
DR CCDS; CCDS64572.1; -. [Q5T6L9-3]
DR CCDS; CCDS64573.1; -. [Q5T6L9-2]
DR CCDS; CCDS64574.1; -. [Q5T6L9-4]
DR RefSeq; NP_001265460.1; NM_001278531.1. [Q5T6L9-3]
DR RefSeq; NP_001265461.1; NM_001278532.1. [Q5T6L9-4]
DR RefSeq; NP_001265462.1; NM_001278533.1. [Q5T6L9-2]
DR RefSeq; NP_060811.1; NM_018341.2. [Q5T6L9-1]
DR RefSeq; XP_011534241.1; XM_011535939.2. [Q5T6L9-4]
DR RefSeq; XP_011534242.1; XM_011535940.2. [Q5T6L9-4]
DR RefSeq; XP_016866521.1; XM_017011032.1. [Q5T6L9-4]
DR RefSeq; XP_016866522.1; XM_017011033.1. [Q5T6L9-4]
DR AlphaFoldDB; Q5T6L9; -.
DR SMR; Q5T6L9; -.
DR BioGRID; 120895; 1.
DR STRING; 9606.ENSP00000355735; -.
DR iPTMnet; Q5T6L9; -.
DR PhosphoSitePlus; Q5T6L9; -.
DR BioMuta; ERMARD; -.
DR DMDM; 74745242; -.
DR EPD; Q5T6L9; -.
DR MassIVE; Q5T6L9; -.
DR PaxDb; Q5T6L9; -.
DR PeptideAtlas; Q5T6L9; -.
DR PRIDE; Q5T6L9; -.
DR ProteomicsDB; 30484; -.
DR ProteomicsDB; 64597; -. [Q5T6L9-1]
DR ProteomicsDB; 64598; -. [Q5T6L9-2]
DR ProteomicsDB; 64599; -. [Q5T6L9-3]
DR Antibodypedia; 49588; 98 antibodies from 17 providers.
DR DNASU; 55780; -.
DR Ensembl; ENST00000366772.6; ENSP00000355734.1; ENSG00000130023.16. [Q5T6L9-3]
DR Ensembl; ENST00000366773.8; ENSP00000355735.3; ENSG00000130023.16. [Q5T6L9-1]
DR Ensembl; ENST00000392095.8; ENSP00000375945.4; ENSG00000130023.16. [Q5T6L9-4]
DR Ensembl; ENST00000418781.7; ENSP00000397661.2; ENSG00000130023.16. [Q5T6L9-2]
DR Ensembl; ENST00000611694.3; ENSP00000483849.2; ENSG00000276187.4. [Q5T6L9-2]
DR Ensembl; ENST00000615090.4; ENSP00000480327.1; ENSG00000276187.4. [Q5T6L9-4]
DR Ensembl; ENST00000616801.4; ENSP00000483960.2; ENSG00000276187.4. [Q5T6L9-1]
DR Ensembl; ENST00000621205.4; ENSP00000483666.2; ENSG00000276187.4. [Q5T6L9-3]
DR GeneID; 55780; -.
DR KEGG; hsa:55780; -.
DR MANE-Select; ENST00000366773.8; ENSP00000355735.3; NM_018341.3; NP_060811.1.
DR UCSC; uc003qxg.3; human. [Q5T6L9-1]
DR CTD; 55780; -.
DR DisGeNET; 55780; -.
DR GeneCards; ERMARD; -.
DR HGNC; HGNC:21056; ERMARD.
DR HPA; ENSG00000130023; Low tissue specificity.
DR MalaCards; ERMARD; -.
DR MIM; 615532; gene.
DR MIM; 615544; phenotype.
DR neXtProt; NX_Q5T6L9; -.
DR OpenTargets; ENSG00000130023; -.
DR Orphanet; 75857; 6q terminal deletion syndrome.
DR Orphanet; 98892; Periventricular nodular heterotopia.
DR PharmGKB; PA134884522; -.
DR VEuPathDB; HostDB:ENSG00000130023; -.
DR eggNOG; ENOG502QS21; Eukaryota.
DR GeneTree; ENSGT00390000001024; -.
DR HOGENOM; CLU_026135_0_0_1; -.
DR InParanoid; Q5T6L9; -.
DR OMA; ISAQCHQ; -.
DR OrthoDB; 1558288at2759; -.
DR PhylomeDB; Q5T6L9; -.
DR TreeFam; TF329504; -.
DR PathwayCommons; Q5T6L9; -.
DR BioGRID-ORCS; 55780; 7 hits in 1062 CRISPR screens.
DR ChiTaRS; ERMARD; human.
DR GenomeRNAi; 55780; -.
DR Pharos; Q5T6L9; Tdark.
DR PRO; PR:Q5T6L9; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5T6L9; protein.
DR Bgee; ENSG00000130023; Expressed in right uterine tube and 96 other tissues.
DR ExpressionAtlas; Q5T6L9; baseline and differential.
DR Genevisible; Q5T6L9; HS.
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 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Disease variant;
KW Endoplasmic reticulum; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..678
FT /note="Endoplasmic reticulum membrane-associated RNA
FT degradation protein"
FT /id="PRO_0000295626"
FT TRANSMEM 390..410
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 587..607
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..126
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053708"
FT VAR_SEQ 508..580
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026951"
FT VAR_SEQ 508..579
FT /note="WPQLLRELCSTPVPTLFCPRIVLEVLVVLRSISEQCRRVSSQVTVASELRHR
FT QWVERTLRSRQRQNYLRMWS -> PTSDTPLALAPRKPQPCRCRRRVRP (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026952"
FT VARIANT 377
FT /note="I -> N (in PVNH6; may decrease protein stability;
FT dbSNP:rs398122410)"
FT /evidence="ECO:0000269|PubMed:24056535"
FT /id="VAR_070433"
FT VARIANT 540
FT /note="S -> G (in dbSNP:rs4716346)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033300"
FT CONFLICT 276
FT /note="E -> G (in Ref. 1; BAA92035)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 678 AA; 77788 MW; ED26D4C45ECDCA21 CRC64;
MEVLIGDPIT TCLSPSVYDI ICNLGFQLRE NCDINSIVTQ NGEVCWKTIT DCVSYTESEQ
GLDYWGSVRL LGPVCEAVHS HFLSLTKGQF EIRYAPWFQW TSFPELFPEI FDALESLQSP
AISLSLMKLT SCLERALGDV FLLIGKECPF LLRDLLSSEE LAQVFSQSVM NVLKVFVGSP
CGLNLRNVLW HGFASPEEIP PKYCSMMILL TAGLGQLLKS YLQNTKLTLA HRSFISLTNL
EDLIVFPDVT YEVLSVLEEV MMKSAFILKI MLPYWEVALV KFKSHRFADC AILLLTQLET
GLRNVFATLN RCPKRLLTAE STALYTTFDQ ILAKHLNDGK INQLPLFLGE PAMEFLWDFL
NHQEGPRIRD HLSHGEINLH EFSKETTNQL LAFSLVLLLR FVDDCLLSVF KEKSAVELLI
SLAEGYSSRC HPVFQLKKQV LSCEESIRVW ALLPFPEELT RQAVRLEDNS ETNACHSLIT
KMTDELYHHM PENRCVLKDL DRLPTETWPQ LLRELCSTPV PTLFCPRIVL EVLVVLRSIS
EQCRRVSSQV TVASELRHRQ WVERTLRSRQ RQNYLRMWSS IRLLSPVLSL ILLLIALELV
NIHAVCGKNA HEYQQYLKFV KSILQYTENL VAYTSYEKNK WNETINLTHT ALLKMWTFSE
KKQMLIHLAK KSTSKVLL
