LOCUS       NM_001009996            1748 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens DALR anticodon binding domain containing 3 (DALRD3),
            transcript variant 1, mRNA.
ACCESSION   NM_001009996 XM_001132392
VERSION     NM_001009996.3
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 1748)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1748)
  AUTHORS   Lentini,J.M., Alsaif,H.S., Faqeih,E., Alkuraya,F.S. and Fu,D.
  TITLE     DALRD3 encodes a protein mutated in epileptic encephalopathy that
            targets arginine tRNAs for 3-methylcytosine modification
  JOURNAL   Nat Commun 11 (1), 2510 (2020)
   PUBMED   32427860
  REMARK    GeneRIF: DALRD3 encodes a protein mutated in epileptic
            encephalopathy that targets arginine tRNAs for 3-methylcytosine
            modification.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1748)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1748)
  AUTHORS   Di Leva,G., Piovan,C., Gasparini,P., Ngankeu,A., Taccioli,C.,
            Briskin,D., Cheung,D.G., Bolon,B., Anderlucci,L., Alder,H.,
            Nuovo,G., Li,M., Iorio,M.V., Galasso,M., Santhanam,R., Marcucci,G.,
            Perrotti,D., Powell,K.A., Bratasz,A., Garofalo,M., Nephew,K.P. and
            Croce,C.M.
  TITLE     Estrogen mediated-activation of miR-191/425 cluster modulates
            tumorigenicity of breast cancer cells depending on estrogen
            receptor status
  JOURNAL   PLoS Genet 9 (3), e1003311 (2013)
   PUBMED   23505378
  REMARK    Erratum:[PLoS Genet. 2013 Apr;9(4).
            doi:10.1371/annotation/92dfa670-d431-4d68-b70b-706df1f93e46.
            Ramasamy, Santhanam [corrected to Santhanam, Ramasamy]]
REFERENCE   5  (bases 1 to 1748)
  AUTHORS   Grinchuk,O.V., Jenjaroenpun,P., Orlov,Y.L., Zhou,J. and
            Kuznetsov,V.A.
  TITLE     Integrative analysis of the human cis-antisense gene pairs, miRNAs
            and their transcription regulation patterns
  JOURNAL   Nucleic Acids Res 38 (2), 534-547 (2010)
   PUBMED   19906709
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB045082.1 and BC047683.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001009996.2.
            
            Summary: The exact function of this gene is not known. It encodes a
            protein with a DALR anticodon binding domain similar to that of
            class Ia aminoacyl tRNA synthetases. This gene is located in a
            cluster of genes (with a complex sense-anti-sense genome
            architecture) on chromosome 3, and contains two micro RNA (miRNA)
            precursors (mir-425 and mir-191) in one of its introns.
            Preferential expression of this gene (the miRNAs and other genes in
            the cluster) in testis suggests a role of this gene in
            spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032440.1, SRR1660809.178581.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341949.9/ ENSP00000344989.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                DB045082.1         29-38
            11-1748             BC047683.1         1-1738
FEATURES             Location/Qualifiers
     source          1..1748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1748
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="DALR anticodon binding domain containing 3"
                     /db_xref="GeneID:55152"
                     /db_xref="HGNC:HGNC:25536"
                     /db_xref="MIM:618904"
     exon            1..181
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1648
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="isoform 1 is encoded by transcript variant 1; DALR
                     anticodon-binding domain-containing protein 3"
                     /codon_start=1
                     /product="DALR anticodon-binding domain-containing protein
                     3 isoform 1"
                     /protein_id="NP_001009996.1"
                     /db_xref="CCDS:CCDS33754.1"
                     /db_xref="GeneID:55152"
                     /db_xref="HGNC:HGNC:25536"
                     /db_xref="MIM:618904"
                     /translation="MATRRLGVGETLGALNAALGPGGPVWIKETRTRHLRSRDFLAPH
                     RALQARFDDGQVPEHLLHALACLQGPGVAPVLRCAPTPAGLSLQLQRSAVFERVLSAV
                     AAYATPASPASLGQRVLLHCPALRSSPCALRLSQLRTVLVADHLARALRAHGVCVRLV
                     PAVRDPHMLTFLQQLRVDWPAASERASSHTLRSHALEELTSANDGRTLSPGILGRLCL
                     KELVEEQGRTAGYDPNLDNCLVTEDLLSVLAELQEALWHWPEDSHPGLAGASDTGTGG
                     CLVVHVVSCEEEFQQQKLDLLWQKLVDKAPLRQKHLICGPVKVAGAPGTLMTAPEYYE
                     FRHTQVCKASALKHGGDLAQDPAWTEIFGVLSVATIKFEMLSTAPQSQLFLALADSSI
                     STKGTKSGTFVMYNCARLATLFESYKCSMEQGLYPTFPPVSSLDFSLLHDEGEWLLLF
                     NSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRP
                     HLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI"
     exon            182..477
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            478..734
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            735..814
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            815..943
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1017
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1079
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1162
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1345
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1459
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1528
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     exon            1529..1748
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1723..1728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="hexamer: AATAAA"
     polyA_site      1748
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="major polyA site"
ORIGIN      
        1 actccttccg gtcaccatgg cgaccaggcg ccttggggtc ggggagacgc tgggggccct
       61 caacgcggcc ctggggccag gcggtccggt gtggatcaag gagacgcgca cccgccacct
      121 gcgttcccga gactttctgg caccgcaccg cgcgctgcag gcgcgcttcg atgacggcca
      181 ggttccggag catttgctcc atgccctcgc ctgcctgcag ggccccggtg tggccccggt
      241 gctgcgctgc gcgccgaccc ccgcgggtct gtctctccaa ctgcagcggt ccgccgtctt
      301 cgagcgcgtc ctcagcgccg tggccgccta tgccacgccc gcctcgcctg cctcgctggg
      361 ccagcgcgtc ttactacact gcccagcact gcgcagctcc ccctgcgcac tccgcttgag
      421 ccagctgcgt acggtgctcg tggccgatca cctggcgcga gccctgcgcg ctcacggggt
      481 gtgcgtgcgc ctagtgccag ctgtgcggga tccgcacatg ctgaccttcc tgcagcaact
      541 gcgggtggac tggcccgctg cctcggagag agcttcctcc cacaccctga ggagccacgc
      601 ccttgaagaa cttacctctg ctaatgacgg gaggacactg tcccctggca tcctaggcag
      661 actgtgtctg aaggagctgg tggaagaaca gggccgcaca gctggctatg accccaacct
      721 ggacaactgt ctggtgactg aggatctcct ctctgtgctg gctgagctgc aagaggctct
      781 atggcattgg cccgaggaca gccacccagg cctggctggg gcctcagata ctggtacagg
      841 cggctgcctg gttgtacatg ttgttagctg tgaggaggag ttccagcaac agaagttgga
      901 cctgctttgg cagaagttgg ttgacaaggc tccactcaga cagaagcacc tcatctgtgg
      961 ccctgtgaaa gtagctggtg cacctggcac tctgatgact gcccctgagt actacgagtt
     1021 ccggcatacc caggtgtgca aggcctcagc actgaagcat ggtggggatc tggcacaaga
     1081 cccagcctgg acagagatct ttggtgttct ctctgtggcc accatcaagt ttgagatgct
     1141 gagcacagcc ccacagagtc agctcttcct ggctctggct gacagcagta tctccacgaa
     1201 gggcacaaag agtggcacct ttgtcatgta taattgtgcc cgtcttgcca cactctttga
     1261 gagttacaag tgtagtatgg aacaaggtct gtaccccact tttcctcctg tgagcagtct
     1321 ggacttctca ctgctacatg atgagggtga gtggttgttg ctcttcaaca gtatcctccc
     1381 ctttccggat ctgctgagcc ggacagcagt gctggactgc acagccccgg ggctccacat
     1441 tgctgtacgc acagagatga tatgcaagtt cctggtacag ctcagcatgg atttcagctc
     1501 ctactacaac cgggtacaca tcctggggga gcctcgacca cacctctttg gtcagatgtt
     1561 cgtccgcctg cagcttctga gagctgtgcg tgaggtgctc catactggcc tggctatgct
     1621 gggtctccct ccactgagcc acatttaagg ccacagaggc tccaatacct gggaatgttc
     1681 acaaagtcat caactggaaa aaaagcaaaa acccacggcc aaaataaatt ggtactgttt
     1741 gttacaaa
//
