GGRNA | NM_001039459.2

LOCUS       NM_001039459            3590 bp    mRNA    linear   PRI 29-JUN-2013
DEFINITION  Homo sapiens engulfment and cell motility 1 (ELMO1), transcript
            variant 3, mRNA.
ACCESSION   NM_001039459
VERSION     NM_001039459.2  GI:330417910
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 3590)
  AUTHORS   Dulak,A.M., Stojanov,P., Peng,S., Lawrence,M.S., Fox,C.,
            Stewart,C., Bandla,S., Imamura,Y., Schumacher,S.E., Shefler,E.,
            McKenna,A., Carter,S.L., Cibulskis,K., Sivachenko,A., Saksena,G.,
            Voet,D., Ramos,A.H., Auclair,D., Thompson,K., Sougnez,C.,
            Onofrio,R.C., Guiducci,C., Beroukhim,R., Zhou,Z., Lin,L., Lin,J.,
            Reddy,R., Chang,A., Landrenau,R., Pennathur,A., Ogino,S.,
            Luketich,J.D., Golub,T.R., Gabriel,S.B., Lander,E.S., Beer,D.G.,
            Godfrey,T.E., Getz,G. and Bass,A.J.
  TITLE     Exome and whole-genome sequencing of esophageal adenocarcinoma
            identifies recurrent driver events and mutational complexity
  JOURNAL   Nat. Genet. 45 (5), 478-486 (2013)
   PUBMED   23525077
  REMARK    GeneRIF: ELMO1 mutations are associated with esophageal
            adenocarcinoma.
REFERENCE   2  (bases 1 to 3590)
  AUTHORS   Sherva,R., Tripodis,Y., Bennett,D.A., Chibnik,L.B., Crane,P.K., de
            Jager,P.L., Farrer,L.A., Saykin,A.J., Shulman,J.M. and Green,R.C.
  CONSRTM   The GENAROADS Consortium, and The Alzheimer's Disease Neuroimaging
            Initiative
  TITLE     Genome-wide association study of the rate of cognitive decline in
            Alzheimer's disease
  JOURNAL   Alzheimers Dement (2013) In press
   PUBMED   23535033
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   3  (bases 1 to 3590)
  AUTHORS   Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
            Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
            Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
            McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
            Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
            de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
            Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
            Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet. 9 (1), E1003225 (2013)
   PUBMED   23382691
REFERENCE   4  (bases 1 to 3590)
  AUTHORS   Maeda,S.
  TITLE     [Genetic study for diabetic microvascular complications--recent
            advances and future perspectives]
  JOURNAL   Nippon Rinsho 70 (SUPPL 5), 219-225 (2012)
   PUBMED   23156397
  REMARK    GeneRIF: Analysis of SNP databases of Japanese patuients with
            diabetic nephropathy revealed ELMO1 as a gene related to the
            above-cited diabetic complication.
REFERENCE   5  (bases 1 to 3590)
  AUTHORS   Shimazaki,A., Kawamura,Y., Kanazawa,A., Sekine,A., Saito,S.,
            Tsunoda,T., Koya,D., Babazono,T., Tanaka,Y., Matsuda,M., Kawai,K.,
            Iiizumi,T., Imanishi,M., Shinosaki,T., Yanagimoto,T., Ikeda,M.,
            Omachi,S., Kashiwagi,A., Kaku,K., Iwamoto,Y., Kawamori,R.,
            Kikkawa,R., Nakajima,M., Nakamura,Y. and Maeda,S.
  TITLE     Genetic variations in the gene encoding ELMO1 are associated with
            susceptibility to diabetic nephropathy
  JOURNAL   Diabetes 54 (4), 1171-1178 (2005)
   PUBMED   15793258
  REMARK    GeneRIF: These results indicate that ELMO1 is a novel candidate
            gene that both confers susceptibility to diabetic nephropathy and
            plays an important role in the development and progression of this
            disease.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3590)
  AUTHORS   Sanui,T., Inayoshi,A., Noda,M., Iwata,E., Stein,J.V., Sasazuki,T.
            and Fukui,Y.
  TITLE     DOCK2 regulates Rac activation and cytoskeletal reorganization
            through interaction with ELMO1
  JOURNAL   Blood 102 (8), 2948-2950 (2003)
   PUBMED   12829596
  REMARK    GeneRIF: the association of DOCK2 with ELMO1 is critical for
            DOCK2-mediated Rac activation, thereby suggesting that their
            association might be a therapeutic target for immunologic disorders
            caused by lymphocyte infiltration
REFERENCE   7  (bases 1 to 3590)
  AUTHORS   Katoh,H. and Negishi,M.
  TITLE     RhoG activates Rac1 by direct interaction with the Dock180-binding
            protein Elmo
  JOURNAL   Nature 424 (6947), 461-464 (2003)
   PUBMED   12879077
REFERENCE   8  (bases 1 to 3590)
  AUTHORS   Scott,M.P., Zappacosta,F., Kim,E.Y., Annan,R.S. and Miller,W.T.
  TITLE     Identification of novel SH3 domain ligands for the Src family
            kinase Hck. Wiskott-Aldrich syndrome protein (WASP),
            WASP-interacting protein (WIP), and ELMO1
  JOURNAL   J. Biol. Chem. 277 (31), 28238-28246 (2002)
   PUBMED   12029088
REFERENCE   9  (bases 1 to 3590)
  AUTHORS   Brugnera,E., Haney,L., Grimsley,C., Lu,M., Walk,S.F.,
            Tosello-Trampont,A.C., Macara,I.G., Madhani,H., Fink,G.R. and
            Ravichandran,K.S.
  TITLE     Unconventional Rac-GEF activity is mediated through the
            Dock180-ELMO complex
  JOURNAL   Nat. Cell Biol. 4 (8), 574-582 (2002)
   PUBMED   12134158
  REMARK    GeneRIF: Dock180 ELMO complex functions as an unconventional
            two-part exchange factor for Rac.
REFERENCE   10 (bases 1 to 3590)
  AUTHORS   Gumienny,T.L., Brugnera,E., Tosello-Trampont,A.C., Kinchen,J.M.,
            Haney,L.B., Nishiwaki,K., Walk,S.F., Nemergut,M.E., Macara,I.G.,
            Francis,R., Schedl,T., Qin,Y., Van Aelst,L., Hengartner,M.O. and
            Ravichandran,K.S.
  TITLE     CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is
            required for phagocytosis and cell migration
  JOURNAL   Cell 107 (1), 27-41 (2001)
   PUBMED   11595183
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI600726.1, BC064635.1 and
            AC007349.1.
            On Apr 26, 2011 this sequence version replaced gi:86788139.
            
            Summary: This gene encodes a member of the engulfment and cell
            motility protein family. These proteins interact with dedicator of
            cytokinesis proteins to promote phagocytosis and cell migration.
            Increased expression of this gene and dedicator of cytokinesis 1
            may promote glioma cell invasion, and single nucleotide
            polymorphisms in this gene may be associated with diabetic
            nephropathy. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Apr 2011].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at a
            downstream, in-frame start codon, compared to variant 1. The
            encoded isoform (2) has a shorter N-terminus, compared to 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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064635.1, BM919392.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                BI600726.1         9-60
            53-1955             BC064635.1         1-1903
            1956-3590           AC007349.1         122715-124349       c
FEATURES             Location/Qualifiers
     source          1..3590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..3590
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /note="engulfment and cell motility 1"
                     /db_xref="GeneID:9844"
                     /db_xref="HGNC:16286"
                     /db_xref="MIM:606420"
     exon            1..198
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    181..183
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /note="upstream in-frame stop codon"
     exon            199..362
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     CDS             202..945
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /note="isoform 2 is encoded by transcript variant 3;
                     engulfment and cell motility protein 1; ced-12 homolog 1"
                     /codon_start=1
                     /product="engulfment and cell motility protein 1 isoform
                     2"
                     /protein_id="NP_001034548.1"
                     /db_xref="GI:86788140"
                     /db_xref="CCDS:CCDS5450.1"
                     /db_xref="GeneID:9844"
                     /db_xref="HGNC:16286"
                     /db_xref="MIM:606420"
                     /translation="

MQVVKEQVMRALTTKPSSLDQFKSKLQNLSYTEILKIRQSERMNQEDFQSRPILELKEKIQPEILELIKQQRLNRLVEGTCFRKLNARRRQDKFWYCRLSPNHKVLHYGDLEESPQGEVPHDSLQDKLPVADIKAVVTGKDCPHMKEKGALKQNKEVLELAFSILYDSNCQLNFIAPDKHEYCIWTDGLNALLGKDMMSDLTRNDLDTLLSMEIKLRLLDLENIQIPDAPPPIPKEPSNYDFVYDCN

"
     misc_feature    <574..777
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /note="Pleckstrin homology-like domain; Region: PH-like;
                     cl00273"
                     /db_xref="CDD:206947"
     misc_feature    919..921
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    931..933
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     exon            363..475
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     exon            476..583
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     exon            584..666
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     exon            667..744
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     exon            745..3590
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /inference="alignment:Splign:1.39.8"
     STS             1365..2185
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /standard_name="ELMO1_9004"
                     /db_xref="UniSTS:468402"
     variation       1750
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:14392"
     STS             1975..2124
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /standard_name="WI-16086"
                     /db_xref="UniSTS:29007"
     polyA_signal    2116..2121
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
     polyA_site      2135
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
     polyA_signal    3566..3571
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
     polyA_site      3590
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
ORIGIN

tttcgttgggtagaaacaggaagaacaagaaagcagtactataaacaggcaatggaggggcagcgtggggaacgagaaactctttgcctgtagggacccttctagctgcaaacttaaaaatgtatgtggcaagatgcaacccaagcaccgagcaggattccagacgagttataatcattctgaacggggagaggaaaggtaatgcaggtggtgaaggagcaggttatgagagcacttacaaccaagcctagctccctggaccagttcaagagcaaactgcagaacctgagctacactgagatcctgaaaatccgccagtccgagaggatgaaccaggaagatttccagtcccgcccgattttggaactaaaggagaagattcagccagaaatcttagagctgatcaaacagcaacgcctgaaccgccttgtggaagggacctgctttaggaaactcaatgcccggcggaggcaagacaagttttggtattgtcggctttcgccaaatcacaaagtcctgcattacggagacttagaagagagtcctcagggagaagtgccccacgattccttgcaggacaaactgccggtggcagatatcaaagccgtggtgacgggaaaggactgccctcatatgaaagagaaaggtgcccttaaacaaaacaaggaggtgcttgaactcgctttctccatcttgtatgactcaaactgccaactgaacttcatcgctcctgacaagcatgagtactgtatctggacggatggactgaatgcgctactcgggaaggacatgatgagcgacctgacgcggaatgacctggacaccctgctcagcatggaaatcaagctccgcctcctggacctggaaaacatccagatccctgacgcacctccgccgattcccaaggagcccagcaactatgacttcgtctatgactgtaactgaagtggccgggcccagacatgccccttccaaaactggaacacctagctaacaggagagaggaatgaaaacacacccacgccttggaaccgtcctttggtaaagggaagctgtgggtccacattcccttcagcatcacctctagccctggcaactttcagcccctagctggcatcttgctcaccgccctgattctgttcctcggctccactgcttcaggtcacttcccatggctgcagtccactggtgggacaagagcaaagcccactgccagtaagaaggccaaagggcccttccatcctagccctctgcaggcatgcccttccttcccttgggcaggaaagccagcagccccagactgcccaaaaacttgcccaccagaccaagggcagtgccccaaggcccctgtctggaggaaatggcctagctatttgatgagaagaccaaaccccacatcctcctttcccctctctctagaatcatctcgcaccaccagttacacttgaattaagatctgcgctcaaatctcctcccacctctctccctgcttttgccttgctctgttcctctttggtcccaagagcagcagccgcagcctcctcgtgatcctccctagcataaatttcccaaacagtccacaggtcccatgcccactttgcgtctgcactgtgatcgtgacaaatcttccctcctcaccagctagtctggggtttcctctccctgccccaggccagaactgccttcttcatttccacccacgctcccagcctcttagctgaaagcacaaatggtgaaatcagtagtctcgctccatctctaatagactaaacctaaatgcctctaggacggactgttgctatccaagcgtttggtgttaccttctcctgggaggtcctgctgcaactcaagttccacaggatggtcaagctgtcagacatccaagtttacatcattgtaattattactggtatttacaatttgcaagagttttgggttagtttttttttttttttttgctttgtttttgtacaaaagagtctaacattttttgccaaacagatatatatttaatgaaaagaagagatacataaatgtgtgaatttccagtttttttttaattattttaatcccaaacatcttcctgaaaataacattcccttaaacatgctgtggaataaaatggattgtgatgatttggggagctggtgttttgatttagtaacttaggttcttgctactcagtcatcagcatcacctgggagcttgttggagatgccagctcttcagctccaccctagacctgctgaattgggtgatgtttatgtacattggtttgaaaaacactgctgtgggaaaccctccaccattgctaggtcaccataggctctgagcatcagtggagaatgttacttctaagaagaccatctcgactcactgagaaaatcagacccactgtatgaaaatatctattccttttacattgctgtctcttgaccatgactttctcttttttctttcttaccatgatataatttatagaatgggtctaattaaagacatcacaactttgagggagcacatttagcaatgaaaagaatgcatacccacagacctgaaataagccagaactaaataaatctaaccgtgggttaataaattataggtcagagcccagcgaaggatgtttcttaagtcatttgcactggaggcattatcaggattgtaaactcccagcactgggagggatgtcagaagggtccaagcatgcagtattaagcgtggcacagcaccagccactctggcctcacagcacaagctgtggaagcatccaggtcatttctctttaccgtcatcaggatgtgcaattacagattgacctgggttgagatgatatggtccagagcactgcatgcattgcaggaaaaaagtcctttgcattcacaggggttccttcttcccatcagagcactcacacctgtgtcaagctgttaattccttgatcattaagcttcgatgttattaacatgtacttgctatcaggagcagttattaatctacccatcatcatgataaaacagtaagtgttaggtcaaaggcagcaaacaaagtcatattatttttttcttatgggttacaagatccaatccatgaaaaagggaactttctggaccaggatctctgaggtcctgagacactgggtttaagaaatgtatctgtcctgtgaccttggttggggagatccagcccctctctcttctggcactccagctttggtgcatttaatagaaagaaaccttttcaggactatgaaaggcagcattctccagctcctccctagaccctcctttggacctgtgagatctgaagagtatgccatctgtttccattcattttgtgaccatgtggggaaggattgttgcccatatttggccacctcaccttctctctccaggctgcccaaggctttttttcccatgcaatgagcctaccacctccaactcatctcctgttgcctgcagtttcctaagcctgggcaactcagccaaatccaaggcagaagtaaagtaggaagactgatgttgtcgtgaagtccaagttgcattctgctattcatattactcaaaataaaactgattacttaatttgaa

//

Annotations: