LOCUS       NM_001135022            2364 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens ELMO domain containing 3 (ELMOD3), transcript variant
            3, mRNA.
ACCESSION   NM_001135022
VERSION     NM_001135022.2
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 2364)
  AUTHORS   Liu,X., Wen,J., Liu,X., Chen,A., Li,S., Liu,J., Sun,J., Gong,W.,
            Kang,X., Feng,Z., He,C., Mei,L., Ling,J. and Feng,Y.
  TITLE     Gene regulation analysis of patient-derived iPSCs and its
            CRISPR-corrected control provides a new tool for studying
            perturbations of ELMOD3 c.512A>G mutation during the development of
            inherited hearing loss
  JOURNAL   PLoS One 18 (9), e0288640 (2023)
   PUBMED   37708136
  REMARK    GeneRIF: Gene regulation analysis of patient-derived iPSCs and its
            CRISPR-corrected control provides a new tool for studying
            perturbations of ELMOD3 c.512A>G mutation during the development of
            inherited hearing loss.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2364)
  AUTHORS   Loi,E., Moi,L., Blois,S., Bacchelli,E., Vega Benedetti,A.F.,
            Cameli,C., Fadda,R., Maestrini,E., Carta,M., Doneddu,G. and
            Zavattari,P.
  TITLE     ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism
            spectrum disorder scenario
  JOURNAL   J Cell Mol Med 24 (2), 2064-2069 (2020)
   PUBMED   31800155
  REMARK    GeneRIF: ELMOD3-SH2D6 gene fusion as a possible co-star actor in
            autism spectrum disorder scenario.
REFERENCE   3  (bases 1 to 2364)
  AUTHORS   Li,W., Sun,J., Ling,J., Li,J., He,C., Liu,Y., Chen,H., Men,M.,
            Niu,Z., Deng,Y., Li,M., Li,T., Wen,J., Sang,S., Li,H., Wan,Z.,
            Richard,E.M., Chapagain,P., Yan,D., Liu,X.Z., Mei,L. and Feng,Y.
  TITLE     ELMOD3, a novel causative gene, associated with human autosomal
            dominant nonsyndromic and progressive hearing loss
  JOURNAL   Hum Genet 137 (4), 329-342 (2018)
   PUBMED   29713870
  REMARK    GeneRIF: the analysis of the stability of the wild-type (WT) and
            mutant ELMOD3 protein shows that the decay of p.His171Arg is faster
            than that of the WT, suggesting a shorter halflife of the c.512A >
            G variant. A novel variant in the ELMOD3 gene, encoding a member of
            the engulfment and cell motility (ELMO) family
REFERENCE   4  (bases 1 to 2364)
  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   5  (bases 1 to 2364)
  AUTHORS   Jaworek,T.J., Richard,E.M., Ivanova,A.A., Giese,A.P., Choo,D.I.,
            Khan,S.N., Riazuddin,S., Kahn,R.A. and Riazuddin,S.
  TITLE     An alteration in ELMOD3, an Arl2 GTPase-activating protein, is
            associated with hearing impairment in humans
  JOURNAL   PLoS Genet 9 (9), e1003774 (2013)
   PUBMED   24039609
  REMARK    GeneRIF: Collectively, our data provide the first insights into the
            expression and biochemical properties of ELMOD3 and highlight its
            functional links to sound perception and actin cytoskeleton.
REFERENCE   6  (bases 1 to 2364)
  AUTHORS   East,M.P., Bowzard,J.B., Dacks,J.B. and Kahn,R.A.
  TITLE     ELMO domains, evolutionary and functional characterization of a
            novel GTPase-activating protein (GAP) domain for Arf protein family
            GTPases
  JOURNAL   J Biol Chem 287 (47), 39538-39553 (2012)
   PUBMED   23014990
REFERENCE   7  (bases 1 to 2364)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA294897.1, BC010991.2,
            AK025630.1 and AF258573.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001135022.1.
            
            Summary: This gene encodes a member of the engulfment and cell
            motility family of GTPase-activating proteins that regulate Arf
            GTPase proteins. Members of this family are defined by a conserved
            engulfment and cell motility domain. In rat cochlea, the encoded
            protein is found in stereocilia, kinocilia and cuticular plate of
            developing hair cells suggesting a function for this protein in
            cochlear sensory cells. An allelic variant of this family has been
            associated with autosomal recessive nonsyndromic deafness-88 in
            humans. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010991.2, SRR1803617.185168.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409013.8/ ENSP00000387139.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA294897.1         54-72
            20-1313             BC010991.2         1-1294
            1314-1787           AK025630.1         1555-2028
            1788-2364           AF258573.1         1352-1928
FEATURES             Location/Qualifiers
     source          1..2364
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2364
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /note="ELMO domain containing 3"
                     /db_xref="GeneID:84173"
                     /db_xref="HGNC:HGNC:26158"
                     /db_xref="MIM:615427"
     exon            1..61
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            62..156
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            157..200
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            201..486
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     CDS             433..1578
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /note="isoform b is encoded by transcript variant 3; RNA
                     binding motif and ELMO/CED-12 domain 1; liver-specific
                     organic anion transporter 3TM12; organic anion transporter
                     LST-3b; ELMO/CED-12 domain containing 3; RNA-binding motif
                     protein 29; RNA-binding motif and ELMO domain-containing
                     protein 1; deafness, autosomal recessive 88"
                     /codon_start=1
                     /product="ELMO domain-containing protein 3 isoform b"
                     /protein_id="NP_001128494.1"
                     /db_xref="CCDS:CCDS46352.1"
                     /db_xref="GeneID:84173"
                     /db_xref="HGNC:HGNC:26158"
                     /db_xref="MIM:615427"
                     /translation="MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPI
                     SELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWEAVDTIQPETGSQASSEQPGQLI
                     SFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
                     QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLAL
                     LHLLYLVMDSKTLPMAQEIFRLSRHHIQQFPFCLMSVNITHIAIQALREECLSRECNR
                     QQKVIPVVNSFYAATFLHLAHVWRTQRKTISDSGFVLKELEVLAKKSPRRLLKTLELY
                     LARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI"
     exon            487..561
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            562..631
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            632..700
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            701..792
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            793..916
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1039
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1170
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1247
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1375
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..2364
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2346..2351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /note="hexamer: AATAAA"
     polyA_site      2364
                     /gene="ELMOD3"
                     /gene_synonym="DFNA81; DFNB88; LST3; RBED1; RBM29"
                     /note="major polyA site"
ORIGIN      
        1 atgagcagat gaggcctagc cgaggcggcg ggacccccaa gtttggaaag ctcttttaac
       61 ggctatgcga aagttctgtc caaaggctgc tcacagcccc tgtctgactg gttgtcatga
      121 tgaattgagc tctctgttac ctgcgcatca caaccgatag taactgtccc tactgaaggc
      181 cccaggagtg ctccagccag agctgaggct tcgaagacct cagaggactt ctctcagcac
      241 tcacagaaac ctcctacacc ctcggatggc acaaagggac tgttttctta ctcttagtct
      301 gagtgactgc caaggaaggc aaaggtagag caactggatc tctggctctc cacatagctt
      361 ctgatctcag accttactaa aatgctttct gggcccaagg acaaagctca catgaacaaa
      421 tgattttgag tcatgaatga aaaatcttgc tctttccata gtaaagaaga attaagagat
      481 ggacagggtg aaagattgtc tgctggatat tctccatcat atgacaagga caagagtgtt
      541 ctggctttca gaggaatccc tatctcagag ttgaagaacc atggcattct ccaggctctg
      601 accacagaag cttatgaatg ggagccacgt gttgtgagta cagaggtggt cagagcccaa
      661 gaagaatggg aagctgtgga caccatccag ccagagacag ggagccaagc tagctcagag
      721 cagcctgggc agctaatctc cttcagtgag gccctgcagc acttccagac tgtggacctt
      781 tcccccttca agaaaagaat ccagccaact attcgaagga ctgggctcgc cgccctccga
      841 cactacctct tcgggcctcc aaagctccac cagcgccttc gggaagaaag ggacttggtc
      901 ctgaccattg ctcagtgtgg cctggatagc caagacccag tgcatggccg agtcctccag
      961 accatctata agaagctgac cggctccaag tttgactgtg cccttcatgg aaaccactgg
     1021 gaggacctgg gctttcaggg agcgaatcca gccacagacc tgagaggcgc aggcttcctt
     1081 gccctcctgc atctgctcta cctggtgatg gactcaaaga ccttgccgat ggcgcaggag
     1141 attttccgcc tgtctcgtca ccacatccag caattccctt tctgtttgat gtccgtgaac
     1201 atcacccaca ttgccatcca ggccttgaga gaggagtgtc tctccagaga gtgtaatcgg
     1261 cagcagaagg tcatccccgt ggtgaacagc ttctatgccg ccacattcct ccacctcgca
     1321 catgtctgga ggacacagcg gaagaccatc tcagactcgg gctttgtcct caaagagttg
     1381 gaagtattgg ccaagaagag cccacggcgg ctgctcaaga ccctggagct gtacttggcc
     1441 agggtgtcaa agggacaggc ctccttgttg ggagcacaga agtgctatgg gccagaagcc
     1501 cctcccttca aggatctcac cttcacaggt gagagtgacc tgcagtctca ctcatccgaa
     1561 ggcgtatggc tgatctgacc tccgagatga atggaggctt aaaggctgag ctgcaggggc
     1621 tttcaggggg tcagtggagc catgtcagga gcctggccag gccgcacccc ttgctgtctc
     1681 agcagatggg atataggaag ctcctgggct tagctgtggg aagccaagta ccctcaccgg
     1741 catgggacat gaggggcagc tagacttcac ccccttcccg cagacctgcc tccagagcaa
     1801 ggagaattct gccttaatct gttgggctcc agtctccggg ttgaattcca gtgtatccca
     1861 ctgggagtga atggatcatg aggtgggatg gccccatctg gatgttctgc agatccccac
     1921 atgggaggag attcccaagt agaggcagcc agaattctga ctccctggca gcagcagggc
     1981 tttcaggcac cagtgtctgt gttgttagaa ctcagaggaa gaggcagggg cagcagccga
     2041 cagggggcag catgacccaa gcaaggggcc tgaggcctca gtgggggtag ggcaaggagg
     2101 tacctcacag gtgggtgtga ggccccctct ggagtttctg gccattcact tacccactct
     2161 cttctccccc tgacccccgc tccattgttt atgatggaaa aacggacatt tggctaggtg
     2221 tctctcacgg ctgctccatc ctagccccca caagctgggg cttcctcctg tagatgctgt
     2281 gcatgcccca tgatgagttt ctggcctaat tgagggaagg aggaaattca taccagcagt
     2341 tttcaaataa aagaattgtt ctaa
//
