LOCUS       NM_133455               2128 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens EMI domain containing 1 (EMID1), transcript variant 1,
            mRNA.
ACCESSION   NM_133455
VERSION     NM_133455.4
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 2128)
  AUTHORS   Wolpin,B.M., Rizzato,C., Kraft,P., Kooperberg,C., Petersen,G.M.,
            Wang,Z., Arslan,A.A., Beane-Freeman,L., Bracci,P.M., Buring,J.,
            Canzian,F., Duell,E.J., Gallinger,S., Giles,G.G., Goodman,G.E.,
            Goodman,P.J., Jacobs,E.J., Kamineni,A., Klein,A.P., Kolonel,L.N.,
            Kulke,M.H., Li,D., Malats,N., Olson,S.H., Risch,H.A., Sesso,H.D.,
            Visvanathan,K., White,E., Zheng,W., Abnet,C.C., Albanes,D.,
            Andreotti,G., Austin,M.A., Barfield,R., Basso,D., Berndt,S.I.,
            Boutron-Ruault,M.C., Brotzman,M., Buchler,M.W.,
            Bueno-de-Mesquita,H.B., Bugert,P., Burdette,L., Campa,D.,
            Caporaso,N.E., Capurso,G., Chung,C., Cotterchio,M., Costello,E.,
            Elena,J., Funel,N., Gaziano,J.M., Giese,N.A., Giovannucci,E.L.,
            Goggins,M., Gorman,M.J., Gross,M., Haiman,C.A., Hassan,M.,
            Helzlsouer,K.J., Henderson,B.E., Holly,E.A., Hu,N., Hunter,D.J.,
            Innocenti,F., Jenab,M., Kaaks,R., Key,T.J., Khaw,K.T., Klein,E.A.,
            Kogevinas,M., Krogh,V., Kupcinskas,J., Kurtz,R.C., LaCroix,A.,
            Landi,M.T., Landi,S., Le Marchand,L., Mambrini,A., Mannisto,S.,
            Milne,R.L., Nakamura,Y., Oberg,A.L., Owzar,K., Patel,A.V.,
            Peeters,P.H., Peters,U., Pezzilli,R., Piepoli,A., Porta,M.,
            Real,F.X., Riboli,E., Rothman,N., Scarpa,A., Shu,X.O.,
            Silverman,D.T., Soucek,P., Sund,M., Talar-Wojnarowska,R.,
            Taylor,P.R., Theodoropoulos,G.E., Thornquist,M., Tjonneland,A.,
            Tobias,G.S., Trichopoulos,D., Vodicka,P., Wactawski-Wende,J.,
            Wentzensen,N., Wu,C., Yu,H., Yu,K., Zeleniuch-Jacquotte,A.,
            Hoover,R., Hartge,P., Fuchs,C., Chanock,S.J.,
            Stolzenberg-Solomon,R.S. and Amundadottir,L.T.
  TITLE     Genome-wide association study identifies multiple susceptibility
            loci for pancreatic cancer
  JOURNAL   Nat Genet 46 (9), 994-1000 (2014)
   PUBMED   25086665
REFERENCE   2  (bases 1 to 2128)
  AUTHORS   Michailidou,K., Hall,P., Gonzalez-Neira,A., Ghoussaini,M.,
            Dennis,J., Milne,R.L., Schmidt,M.K., Chang-Claude,J., Bojesen,S.E.,
            Bolla,M.K., Wang,Q., Dicks,E., Lee,A., Turnbull,C., Rahman,N.,
            Fletcher,O., Peto,J., Gibson,L., Dos Santos Silva,I.,
            Nevanlinna,H., Muranen,T.A., Aittomaki,K., Blomqvist,C., Czene,K.,
            Irwanto,A., Liu,J., Waisfisz,Q., Meijers-Heijboer,H., Adank,M., van
            der Luijt,R.B., Hein,R., Dahmen,N., Beckman,L., Meindl,A.,
            Schmutzler,R.K., Muller-Myhsok,B., Lichtner,P., Hopper,J.L.,
            Southey,M.C., Makalic,E., Schmidt,D.F., Uitterlinden,A.G.,
            Hofman,A., Hunter,D.J., Chanock,S.J., Vincent,D., Bacot,F.,
            Tessier,D.C., Canisius,S., Wessels,L.F., Haiman,C.A., Shah,M.,
            Luben,R., Brown,J., Luccarini,C., Schoof,N., Humphreys,K., Li,J.,
            Nordestgaard,B.G., Nielsen,S.F., Flyger,H., Couch,F.J., Wang,X.,
            Vachon,C., Stevens,K.N., Lambrechts,D., Moisse,M., Paridaens,R.,
            Christiaens,M.R., Rudolph,A., Nickels,S., Flesch-Janys,D.,
            Johnson,N., Aitken,Z., Aaltonen,K., Heikkinen,T., Broeks,A.,
            Veer,L.J., van der Schoot,C.E., Guenel,P., Truong,T.,
            Laurent-Puig,P., Menegaux,F., Marme,F., Schneeweiss,A., Sohn,C.,
            Burwinkel,B., Zamora,M.P., Perez,J.I., Pita,G., Alonso,M.R.,
            Cox,A., Brock,I.W., Cross,S.S., Reed,M.W., Sawyer,E.J.,
            Tomlinson,I., Kerin,M.J., Miller,N., Henderson,B.E., Schumacher,F.,
            Le Marchand,L., Andrulis,I.L., Knight,J.A., Glendon,G.,
            Mulligan,A.M., Lindblom,A., Margolin,S., Hooning,M.J.,
            Hollestelle,A., van den Ouweland,A.M., Jager,A., Bui,Q.M.,
            Stone,J., Dite,G.S., Apicella,C., Tsimiklis,H., Giles,G.G.,
            Severi,G., Baglietto,L., Fasching,P.A., Haeberle,L., Ekici,A.B.,
            Beckmann,M.W., Brenner,H., Muller,H., Arndt,V., Stegmaier,C.,
            Swerdlow,A., Ashworth,A., Orr,N., Jones,M., Figueroa,J.,
            Lissowska,J., Brinton,L., Goldberg,M.S., Labreche,F., Dumont,M.,
            Winqvist,R., Pylkas,K., Jukkola-Vuorinen,A., Grip,M., Brauch,H.,
            Hamann,U., Bruning,T., Radice,P., Peterlongo,P., Manoukian,S.,
            Bonanni,B., Devilee,P., Tollenaar,R.A., Seynaeve,C., van
            Asperen,C.J., Jakubowska,A., Lubinski,J., Jaworska,K., Durda,K.,
            Mannermaa,A., Kataja,V., Kosma,V.M., Hartikainen,J.M.,
            Bogdanova,N.V., Antonenkova,N.N., Dork,T., Kristensen,V.N.,
            Anton-Culver,H., Slager,S., Toland,A.E., Edge,S., Fostira,F.,
            Kang,D., Yoo,K.Y., Noh,D.Y., Matsuo,K., Ito,H., Iwata,H., Sueta,A.,
            Wu,A.H., Tseng,C.C., Van Den Berg,D., Stram,D.O., Shu,X.O., Lu,W.,
            Gao,Y.T., Cai,H., Teo,S.H., Yip,C.H., Phuah,S.Y., Cornes,B.K.,
            Hartman,M., Miao,H., Lim,W.Y., Sng,J.H., Muir,K., Lophatananon,A.,
            Stewart-Brown,S., Siriwanarangsan,P., Shen,C.Y., Hsiung,C.N.,
            Wu,P.E., Ding,S.L., Sangrajrang,S., Gaborieau,V., Brennan,P.,
            McKay,J., Blot,W.J., Signorello,L.B., Cai,Q., Zheng,W.,
            Deming-Halverson,S., Shrubsole,M., Long,J., Simard,J.,
            Garcia-Closas,M., Pharoah,P.D., Chenevix-Trench,G., Dunning,A.M.,
            Benitez,J. and Easton,D.F.
  CONSRTM   Breast and Ovarian Cancer Susceptibility Collaboration; Hereditary
            Breast and Ovarian Cancer Research Group Netherlands (HEBON);
            kConFab Investigators; Australian Ovarian Cancer Study Group;
            GENICA (Gene Environment Interaction and Breast Cancer in Germany)
            Network
  TITLE     Large-scale genotyping identifies 41 new loci associated with
            breast cancer risk
  JOURNAL   Nat Genet 45 (4), 353-361 (2013)
   PUBMED   23535729
REFERENCE   3  (bases 1 to 2128)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 2128)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2128)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   6  (bases 1 to 2128)
  AUTHORS   Leimeister,C., Steidl,C., Schumacher,N., Erhard,S. and Gessler,M.
  TITLE     Developmental expression and biochemical characterization of Emu
            family members
  JOURNAL   Dev Biol 249 (2), 204-218 (2002)
   PUBMED   12221002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z95116.1, BC046358.1, AJ416090.1 and BC013830.1.
            
            On Nov 23, 2018 this sequence version replaced NM_133455.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC046358.1, CR456407.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334018.11/ ENSP00000335481.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                Z95116.1           89351-89418
            69-468              BC046358.1         1-400
            469-2127            AJ416090.1         320-1978
            2128-2128           BC013830.1         1107-1107
FEATURES             Location/Qualifiers
     source          1..2128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2128
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="EMI domain containing 1"
                     /db_xref="GeneID:129080"
                     /db_xref="HGNC:HGNC:18036"
                     /db_xref="MIM:608926"
     exon            1..244
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..1475
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; EMI domain-containing protein 1; emilin and
                     multimerin domain-containing protein 1"
                     /codon_start=1
                     /product="EMI domain-containing protein 1 isoform 1
                     precursor"
                     /protein_id="NP_597712.2"
                     /db_xref="CCDS:CCDS33630.1"
                     /db_xref="GeneID:129080"
                     /db_xref="HGNC:HGNC:18036"
                     /db_xref="MIM:608926"
                     /translation="MGGPRAWALLCLGLLLPGGGAAWSIGAAPFSGRRNWCSYVVTRT
                     ISCHVQNGTYLQRVLQNCPWPMSCPGSSYRTVVRPTYKVMYKIVTAREWRCCPGHSGV
                     SCEEVAASSASLEPMWSGSTMRRMALRPTAFSGCLNCSKVSELTERLKVLEAKMTMLT
                     VIEQPVPPTPATPEDPAPLWGPPPAQGSPGDGGLQDQVGAWGLPGPTGPKGDAGSRGP
                     MGMRGPPGPQGPPGSPGRAGAVGTPGERGPPGPPGPPGPPGPPAPVGPPHARISQHGD
                     PLLSNTFTETNNHWPQGPTGPPGPPGPMGPPGPPGPTGVPGSPGHIGPPGPTGPKGIS
                     GHPGEKGERGLRGEPGPQGSAGQRGEPGPKGDPGEKSHWGEGLHQLREALKILAERVL
                     ILETMIGLYEPELGSGAGPAGTGTPSLLRGKRGGHATNYRIVAPRSRDERG"
     exon            245..358
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            359..462
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            463..546
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            547..608
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            609..729
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            730..819
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            820..966
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1056
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1109
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1172
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1217
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1262
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1347
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..2128
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2101..2106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="hexamer: AATAAA"
     polyA_site      2128
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="major polyA site"
ORIGIN      
        1 gcctcctgcc cgccctccgg ccgcggagct ggaaaccggg ctccgcgcgt ccggggcggc
       61 tggcggcgcg ggcaggcagg cggggaggac aggctggggg cggcgaccgc gaggggccgc
      121 gcgcggaggg cgcctggtgc agcatgggcg gcccgcgggc ttgggcgctg ctctgcctcg
      181 ggctcctgct cccgggaggc ggcgctgcgt ggagcatcgg ggcagctccg ttctccggac
      241 gcaggaactg gtgctcctat gtggtgaccc gcaccatctc atgccatgtg cagaatggca
      301 cctaccttca gcgagtgctg cagaactgcc cctggcccat gagctgtccg gggagcagct
      361 acagaactgt ggtgagaccc acatacaagg tgatgtacaa gatagtgacc gcccgtgagt
      421 ggaggtgctg ccctgggcac tcaggagtga gctgcgagga agttgcagct tcctctgcct
      481 ccttggagcc catgtggtcg ggcagtacca tgcggcggat ggcgcttcgg cccacagcct
      541 tctcaggttg tctcaactgc agcaaagtgt cagagctgac agagcggctg aaggtgctgg
      601 aggccaagat gaccatgctg actgtcatag agcagccagt acctccaaca ccagctaccc
      661 ctgaggaccc tgccccgctc tggggtcccc ctcctgccca gggcagcccc ggagatggag
      721 gcctccagga ccaagtcggt gcttgggggc ttcccgggcc caccggcccc aagggagatg
      781 ccggcagtcg gggcccaatg gggatgagag gcccaccagg tccacagggc cccccaggga
      841 gccctggccg ggctggagct gtgggcaccc ctggagagag gggacctcct gggccaccag
      901 ggcctcctgg cccccctggg cccccagccc ctgttgggcc accccatgcc cggatctccc
      961 agcatggaga cccattgctg tccaacacct tcactgagac caacaaccac tggccccagg
     1021 gacccactgg gcctccaggc cctccagggc ccatgggtcc ccctgggcct cctggcccca
     1081 caggtgtccc tgggagtcct ggtcacatag gacccccagg ccccactgga cccaaaggaa
     1141 tctctggcca cccaggagag aagggcgaga gaggactgcg tggggagcct ggcccccaag
     1201 gctctgctgg gcagcggggg gaacctggcc ctaagggaga ccctggtgag aagagccact
     1261 ggggggaggg gttgcaccag ctacgcgagg ctttgaagat tttagctgag agggttttaa
     1321 tcttggaaac aatgattggg ctctatgaac cagagctggg gtctggggcg ggccctgccg
     1381 gcacaggcac ccccagcctc cttcggggca agaggggcgg acatgcaacc aactaccgga
     1441 tcgtggcccc caggagccgg gacgagagag gctgagggtg gtggcggccc ctgaggcaga
     1501 ccaggccagg cttcccctcc tacctggact cggccagctg cctccaggga ccgcccgtcc
     1561 atatttatta atgtcctcag ggtcccttct gccatctagg ccttaggggt aagcaggtct
     1621 cagtcctggc accatgcaca tgtctgaggc tgagcaaggg ctgagaggag aggcttgggc
     1681 ctcagtttcc ctctgtgaag tggggggagg caggccttca aggagggata gaggtacaag
     1741 gcttcgtctc atctgctgtc tgagcatcca ggcccaaagg cactgaggga gtcaggagct
     1801 ggggctcggc acatgcagag atgacagggc agggggcagt cttcctcccc ctccccgacc
     1861 aaacctcggg gagccctcct gtgcccctcc ctccttgttg tccagtgctg ggctccccac
     1921 cccgaggtca ggctgcccaa tcctctgact ggatcaccgg gggcttcttg cctcagttct
     1981 tccctctgag cccccaggcc ctcccgcatc tcaggttggg gatggggaca tggagaggaa
     2041 ggggccgcct actcctgcaa atgcttgtga cagatgccag gaggtagatg tgtgctggcc
     2101 aataaaggcc cctacctgat tccccgca
//
