LOCUS       NM_018712               2935 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens ELMO domain containing 1 (ELMOD1), transcript variant
            1, mRNA.
ACCESSION   NM_018712
VERSION     NM_018712.4
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 2935)
  AUTHORS   Miryounesi,M., Bahari,S., Salehpour,S., Alipour,N. and
            Ghafouri-Fard,S.
  TITLE     ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with
            Mental Retardation and Autism Spectrum Disorder
  JOURNAL   J Mol Neurosci 69 (2), 312-315 (2019)
   PUBMED   31327155
  REMARK    GeneRIF: ELMOD1 mutation segregates with intellectual disability
            and autism spectrum disorder in Iranian family.
REFERENCE   2  (bases 1 to 2935)
  AUTHORS   Krey,J.F., Dumont,R.A., Wilmarth,P.A., David,L.L., Johnson,K.R. and
            Barr-Gillespie,P.G.
  TITLE     ELMOD1 Stimulates ARF6-GTP Hydrolysis to Stabilize Apical
            Structures in Developing Vestibular Hair Cells
  JOURNAL   J Neurosci 38 (4), 843-857 (2018)
   PUBMED   29222402
REFERENCE   3  (bases 1 to 2935)
  AUTHORS   Hernandez-Vasquez,M.N., Adame-Garcia,S.R., Hamoud,N., Chidiac,R.,
            Reyes-Cruz,G., Gratton,J.P., Cote,J.F. and Vazquez-Prado,J.
  TITLE     Cell adhesion controlled by adhesion G protein-coupled receptor
            GPR124/ADGRA2 is mediated by a protein complex comprising
            intersectins and Elmo-Dock
  JOURNAL   J Biol Chem 292 (29), 12178-12191 (2017)
   PUBMED   28600358
  REMARK    GeneRIF: Data suggest that GPR124 promotes cell adhesion via
            interaction with Elmo1-Dock180 and intersectin 1/2; this
            constitutes a previously unrecognized heteromeric complex that is
            putatively involved in GPR124-dependent adhesive/angiogenic
            responses in vascular endothelial cells. (GPR124 = G-protein
            coupled receptor 124; Elmo1 = ELMO domain-containing protein 1;
            Dock180 = dedicator of cytokinesis protein 1 180 kDa)
REFERENCE   4  (bases 1 to 2935)
  AUTHORS   Alberto Ramirez-Garcia,S., Charles-Nino,C., Mazariegos-Rubi,M.,
            Rosalba Topete-Gonzalez,L., Topete-Gonzalez,R., Javier
            Flores-Alvarado,L., Leyva Santiago,J., Mosso-Gonzalez,C. and Omayra
            Davalos-Rodriguez,N.
  CONSRTM   Grupo Multidisciplinario para el Estudio Integral de las
            Enfermedades Metabolicas e Infecciosas en poblacion Mexicana
  TITLE     [Association of the ELMO1 gene (snp rs1345365) with development of
            type 2 diabetes mellitus in the Mexican mestizo population]
  JOURNAL   Invest Clin 56 (4), 341-355 (2015)
   PUBMED   29938964
REFERENCE   5  (bases 1 to 2935)
  AUTHORS   Ivanova,A.A., East,M.P., Yi,S.L. and Kahn,R.A.
  TITLE     Characterization of recombinant ELMOD (cell engulfment and motility
            domain) proteins as GTPase-activating proteins (GAPs) for ARF
            family GTPases
  JOURNAL   J Biol Chem 289 (16), 11111-11121 (2014)
   PUBMED   24616099
  REMARK    GeneRIF: The non-opioid sigma-1 receptor (S1R) was identified as a
            novel effector of GAP activity of ELMOD1-3 proteins as its direct
            binding to either ELMOD1 or ELMOD2 resulted in loss of GAP
            activity.
REFERENCE   6  (bases 1 to 2935)
  AUTHORS   Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
            Honda,M. and Tokunaga,K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2935)
  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   8  (bases 1 to 2935)
  AUTHORS   Eriksson,N., Macpherson,J.M., Tung,J.Y., Hon,L.S., Naughton,B.,
            Saxonov,S., Avey,L., Wojcicki,A., Pe'er,I. and Mountain,J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet 6 (6), e1000993 (2010)
   PUBMED   20585627
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2935)
  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   10 (bases 1 to 2935)
  AUTHORS   Bowzard,J.B., Cheng,D., Peng,J. and Kahn,R.A.
  TITLE     ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs
  JOURNAL   J Biol Chem 282 (24), 17568-17580 (2007)
   PUBMED   17452337
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC375486.1, BC028725.2 and AP002353.4.
            
            On Nov 23, 2018 this sequence version replaced NM_018712.3.
            
            Transcript Variant: This variant (1) represents the longest isoform
            (1).
            
            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 :: BC028725.2, SRR1803612.70661.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265840.12/ ENSP00000265840.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-207               DC375486.1         144-350
            208-1643            BC028725.2         7-1442
            1644-2291           AP002353.4         3616-4263
            2292-2935           BC028725.2         2083-2726
FEATURES             Location/Qualifiers
     source          1..2935
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..2935
                     /gene="ELMOD1"
                     /note="ELMO domain containing 1"
                     /db_xref="GeneID:55531"
                     /db_xref="HGNC:HGNC:25334"
                     /db_xref="MIM:615456"
     exon            1..263
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            264..365
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             349..1353
                     /gene="ELMOD1"
                     /note="isoform 1 is encoded by transcript variant 1; ELMO
                     domain-containing protein 1; ELMO/CED-12 domain containing
                     1"
                     /codon_start=1
                     /product="ELMO domain-containing protein 1 isoform 1"
                     /protein_id="NP_061182.3"
                     /db_xref="CCDS:CCDS44723.1"
                     /db_xref="GeneID:55531"
                     /db_xref="HGNC:HGNC:25334"
                     /db_xref="MIM:615456"
                     /translation="MKHFLRMLIQVCLYFYCKFLWRCLKFVMRKLTGRCELQRICYNT
                     KPGASRTMKIETSLRDSKSKLLQTSVSVHPDAIEKTIEDIMELKKINPDVNPQLGISL
                     QACLLQIVGYRNLIADVEKLRREAYDSDNPQHEEMLLKLWKFLKPNTPLESRISKQWC
                     EIGFQGDDPKTDFRGMGLLGLYNLQYFAERDATAAQQVLSDSLHPKCRDITKEEISKF
                     SKAEWEKKRMDKAIGYSFAIVGINITDLAYNLLVSGALKTHFYNIAPEAPTLSHFQQT
                     FCYLMHEFHKFWIEEDPMDIMEFNRVREKFRKRIIKQLQNPDMALCPHFAASEGLINM
                     "
     exon            366..511
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            512..540
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            541..638
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            639..768
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            769..902
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            903..971
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            972..995
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1046
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1180
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..2935
                     /gene="ELMOD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2910..2915
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELMOD1"
                     /note="hexamer: ATTACA"
     polyA_site      2935
                     /gene="ELMOD1"
                     /note="major polyA site"
ORIGIN      
        1 ggtcgcctcc tcgccgccag ccgccccggg tgcatcccgg cttgctccgc tccacgcgac
       61 ccagattcct gccccgcccc cgccccttcc gcgcccgcag ccagtgcggc agccgcggcc
      121 gcccctgtcc agcctcggcg cccgggaccg agcgcgtcgc tcgccgccgc ggagcgcgta
      181 gccggagcgc ctggggaagg cggagatgaa gaccacgccg ccgcgcgccg ggagctgctg
      241 agcctaccgc cgccagagtc cagttgacac ttactttgac aaaggcaaat ttggaagcaa
      301 ttacttgagg acagttcata tagcatctgg acagtcaaca cgggcaccat gaagcacttc
      361 ctgagaatgt tgatccaggt atgcctgtat ttttactgta aatttctgtg gcgctgcctg
      421 aaatttgtaa tgaggaagct aactggaaga tgtgaactac aacggatctg ttataatacc
      481 aagccgggag cttctagaac catgaaaatc gaaacatcac tgagggattc taaaagtaag
      541 ctgttgcaga cttctgtgag tgttcacccc gacgctattg aaaaaactat agaagatatc
      601 atggaactga aaaaaattaa tcctgacgta aatccacagc tgggaatctc tcttcaggct
      661 tgccttctgc aaatcgttgg gtacaggaac cttattgcag atgtggaaaa actgcgtaga
      721 gaggcctatg attctgataa tccccaacat gaagaaatgc ttttgaagtt atggaaattc
      781 ttgaagccca atactccact ggaatctcgg atttctaagc agtggtgtga aattggtttc
      841 caaggtgatg atcctaaaac agactttcga ggaatgggac ttctgggact gtacaatttg
      901 cagtatttcg cggaaaggga tgccacagca gctcagcagg tcctgtctga ctctcttcat
      961 ccgaaatgca gggatatcac taaagaagaa ataagcaaat tcagcaaagc agaatgggag
     1021 aagaaaagga tggataaggc aattgggtac tcatttgcaa ttgtgggcat caatataact
     1081 gacctggcat ataatctact ggtcagcgga gctctaaaaa cccatttcta caatatcgcc
     1141 ccagaagctc caacattgtc tcactttcag caaacattct gctatttgat gcatgaattt
     1201 cataagtttt ggatcgaaga ggaccccatg gacataatgg aatttaatcg tgtgagggag
     1261 aaattccgca agaggatcat caaacagctg cagaacccag acatggcgct gtgcccacat
     1321 tttgctgcct cggaaggttt aatcaacatg tagttgccca cgccggtttt aatggatacc
     1381 ctggaacact gcctcattgt cttgttagat ctctgcttag gtcgcagctc acgcattgaa
     1441 tgcacacagt gattgtatgc atgccttttg gtacagtgtt ttcatctctt ggtcataatt
     1501 ccgagatccc cagagaccac tgtttctgga gtatctgtca tccagtgact gctcatattg
     1561 tggcattatg cagtgttaca tcttgccttg atacccaggt atggagagag ttttctattt
     1621 ttttagactt tttttcctct ccctcataat tcagcattaa agaattgtat ttctctagct
     1681 gtattttgta tgtaagaggt ttagctgaat ctcattctgt gaaagccttt taatttattg
     1741 aaatgtttca tgactactgc tgctagctct tcaagccagg ttcatgcttg gacctcattc
     1801 tgataaagta taagacttta aaataataca aaacagggcc gggcgcagtg gctcacacct
     1861 gtaatcccag cactttgggg agctgaggcg ggcggatcac gaggtcaaga gatcgagacc
     1921 atcctggcca acatggtgaa accccgtctc tactaaaaat aacaaaaatt agctgggcgt
     1981 ggtggtgggt gcctgtaatc ccagctactc gggaggctga ggcaggagaa tcgcttgaac
     2041 ccgggaggtg gaggttacag tgagccgaga tcataccact gcactccagc ctggcgacag
     2101 agcaagactc catctcaaaa ataaataaat aaataaataa ataaataaat aaataaataa
     2161 ataaataaat aaaatagtac agacagacac atgataagcc aaactgttcc tgcaaacata
     2221 gctatgcttc atgaggctta caagaagtaa ctttaggtag gagctgtttt tgtttgaagt
     2281 actgcaaaat tatattgtaa cttcccctca ccccagttgc aattgtgtca tagtcatctg
     2341 tatatcaaac tattttattc ccataacttc attggcttgg atgcctaagt gtatgatgct
     2401 tgaagcctca gaaaagaaat aagcatattt caaaagctgc aaaaggtttt tcactgcctg
     2461 cctcttgcgg aactgggtta caccctggca ctgttctgat ccaagcatat ttgcttgggg
     2521 aactaagtgc tgactagttt gttttctatg tcaaggggca atattaaaaa acaatttgca
     2581 agaaaatgtg tttcaagaga gcaacctaag ctaagtcact ctgcgatatt tcttgaaaat
     2641 aacgaccttg tcttgtatca gtggaagaag taagttgctt agaaagggaa aagtcaaatt
     2701 gttccagaac tgctaaaaat cattttaaaa accatgattt agtttggaat tatgattgta
     2761 gtctgttgaa tagtatttac catggcattt catacccatg gtattttata ccttctgact
     2821 atcaatttta gtattattag atgtttgtgt aaccacttgc ttatttaaat gaattttgag
     2881 tactgcctaa ttgtcagtta tatgaataaa ttacatgtca ttctactgta acgta
//
