LOCUS       NM_001410828            2134 bp    mRNA    linear   PRI 15-JUL-2023
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 BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z,
            Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell
            EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ,
            Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson
            SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC,
            Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI,
            Boutron-Ruault MC, Brotzman M, Buchler MW, Bueno-de-Mesquita HB,
            Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C,
            Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA,
            Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M,
            Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti
            F, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh
            V, Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le
            Marchand L, Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL,
            Owzar K, Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A,
            Porta M, Real FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman
            DT, Soucek P, Sund M, Talar-Wojnarowska R, Taylor PR,
            Theodoropoulos GE, Thornquist M, Tjonneland A, Tobias GS,
            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 SJ, Stolzenberg-Solomon RS and Amundadottir LT.
  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 RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q,
            Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L,
            Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K,
            Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q,
            Meijers-Heijboer H, Adank M, van der Luijt RB, Hein R, Dahmen N,
            Beckman L, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P,
            Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG,
            Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC,
            Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J,
            Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen
            SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D,
            Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S,
            Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T,
            Broeks A, Veer LJ, van der Schoot CE, Guenel P, Truong T,
            Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C,
            Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock
            IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N,
            Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA,
            Glendon G, Mulligan AM, Lindblom A, Margolin S, Hooning MJ,
            Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite
            GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L,
            Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller
            H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M,
            Figueroa J, Lissowska J, Brinton L, Goldberg MS, 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 RA, Seynaeve C, van Asperen CJ, Jakubowska
            A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma
            VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T,
            Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira
            F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu
            AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai
            H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY,
            Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P,
            Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V,
            Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W,
            Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M,
            Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J and Easton DF.
  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 SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC 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 PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  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 JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM 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:4.0"
     misc_feature    243..446
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="EMI domain; Region: EMI; pfam07546"
                     /db_xref="CDD:429530"
     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:439624"
     misc_feature    <1146..>1424
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     Region: gly_rich_SclB; NF038329"
                     /db_xref="CDD:439624"
     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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