LOCUS       NM_001410828            2134 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens EMI domain containing 1 (EMID1), transcript variant 3,
            mRNA.
ACCESSION   NM_001410828 XM_005261328
VERSION     NM_001410828.1
KEYWORDS    RefSeq.
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 2134)
  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 2134)
  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 2134)
  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 2134)
  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 2134)
  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 2134)
  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 and AL031186.8.
            
            On Aug 16, 2022 this sequence version replaced XM_005261328.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.2121108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-244               Z95116.1           89351-89594
            245-358             Z95116.1           98381-98494
            359-462             Z95116.1           98982-99085
            463-546             Z95116.1           108588-108671
            547-608             Z95116.1           109945-110006
            609-729             AL031186.8         708-828
            730-819             AL031186.8         1281-1370
            820-966             AL031186.8         1944-2090
            967-1056            AL031186.8         3067-3156
            1057-1109           AL031186.8         3302-3354
            1110-1172           AL031186.8         3825-3887
            1173-1217           AL031186.8         3993-4037
            1218-1262           AL031186.8         13133-13177
            1263-1353           AL031186.8         24959-25049
            1354-2134           AL031186.8         28505-29285
FEATURES             Location/Qualifiers
     source          1..2134
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2134
                     /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..1481
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; EMI domain-containing protein 1; emilin and
                     multimerin domain-containing protein 1"
                     /codon_start=1
                     /product="EMI domain-containing protein 1 isoform 3
                     precursor"
                     /protein_id="NP_001397757.1"
                     /db_xref="CCDS:CCDS93143.1"
                     /db_xref="GeneID:129080"
                     /db_xref="HGNC:HGNC:18036"
                     /db_xref="MIM:608926"
                     /translation="

MGGPRAWALLCLGLLLPGGGAAWSIGAAPFSGRRNWCSYVVTRTISCHVQNGTYLQRVLQNCPWPMSCPGSSYRTVVRPTYKVMYKIVTAREWRCCPGHSGVSCEEVAASSASLEPMWSGSTMRRMALRPTAFSGCLNCSKVSELTERLKVLEAKMTMLTVIEQPVPPTPATPEDPAPLWGPPPAQGSPGDGGLQDQVGAWGLPGPTGPKGDAGSRGPMGMRGPPGPQGPPGSPGRAGAVGTPGERGPPGPPGPPGPPGPPAPVGPPHARISQHGDPLLSNTFTETNNHWPQGPTGPPGPPGPMGPPGPPGPTGVPGSPGHIGPPGPTGPKGISGHPGEKGERGLRGEPGPQGSAGQRGEPGPKGDPGEKSHWAPSLQSFLQQQAQLELLARRVTLLEAIIWPEPELGSGAGPAGTGTPSLLRGKRGGHATNYRIVAPRSRDERG"

     sig_peptide     144..209
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
     misc_feature    243..446
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="EMI domain; Region: EMI; pfam07546"
                     /db_xref="CDD:462204"
     misc_feature    <633..>1247
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     Region: gly_rich_SclB; NF038329"
                     /db_xref="CDD:468478"
     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..1353
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..2134
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2107..2112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="hexamer: AATAAA"
     polyA_site      2134
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="major polyA site"
ORIGIN      

gcctcctgcccgccctccggccgcggagctggaaaccgggctccgcgcgtccggggcggctggcggcgcgggcaggcaggcggggaggacaggctgggggcggcgaccgcgaggggccgcgcgcggagggcgcctggtgcagcatgggcggcccgcgggcttgggcgctgctctgcctcgggctcctgctcccgggaggcggcgctgcgtggagcatcggggcagctccgttctccggacgcaggaactggtgctcctatgtggtgacccgcaccatctcatgccatgtgcagaatggcacctaccttcagcgagtgctgcagaactgcccctggcccatgagctgtccggggagcagctacagaactgtggtgagacccacatacaaggtgatgtacaagatagtgaccgcccgtgagtggaggtgctgccctgggcactcaggagtgagctgcgaggaagttgcagcttcctctgcctccttggagcccatgtggtcgggcagtaccatgcggcggatggcgcttcggcccacagccttctcaggttgtctcaactgcagcaaagtgtcagagctgacagagcggctgaaggtgctggaggccaagatgaccatgctgactgtcatagagcagccagtacctccaacaccagctacccctgaggaccctgccccgctctggggtccccctcctgcccagggcagccccggagatggaggcctccaggaccaagtcggtgcttgggggcttcccgggcccaccggccccaagggagatgccggcagtcggggcccaatggggatgagaggcccaccaggtccacagggccccccagggagccctggccgggctggagctgtgggcacccctggagagaggggacctcctgggccaccagggcctcctggcccccctgggcccccagcccctgttgggccaccccatgcccggatctcccagcatggagacccattgctgtccaacaccttcactgagaccaacaaccactggccccagggacccactgggcctccaggccctccagggcccatgggtccccctgggcctcctggccccacaggtgtccctgggagtcctggtcacataggacccccaggccccactggacccaaaggaatctctggccacccaggagagaagggcgagagaggactgcgtggggagcctggcccccaaggctctgctgggcagcggggggaacctggccctaagggagaccctggtgagaagagccactgggctcctagcttacagagcttcctgcagcagcaggctcagctggagctcctggccagacgggtcaccctcctggaagccatcatctggccagaaccagagctggggtctggggcgggccctgccggcacaggcacccccagcctccttcggggcaagaggggcggacatgcaaccaactaccggatcgtggcccccaggagccgggacgagagaggctgagggtggtggcggcccctgaggcagaccaggccaggcttcccctcctacctggactcggccagctgcctccagggaccgcccgtccatatttattaatgtcctcagggtcccttctgccatctaggccttaggggtaagcaggtctcagtcctggcaccatgcacatgtctgaggctgagcaagggctgagaggagaggcttgggcctcagtttccctctgtgaagtggggggaggcaggccttcaaggagggatagaggtacaaggcttcgtctcatctgctgtctgagcatccaggcccaaaggcactgagggagtcaggagctggggctcggcacatgcagagatgacagggcagggggcagtcttcctccccctccccgaccaaacctcggggagccctcctgtgcccctccctccttgttgtccagtgctgggctccccaccccgaggtcaggctgcccaatcctctgactggatcaccgggggcttcttgcctcagttcttccctctgagcccccaggccctcccgcatctcaggttggggatggggacatggagaggaaggggccgcctactcctgcaaatgcttgtgacagatgccaggaggtagatgtgtgctggccaataaaggcccctacctgattccccgca

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