LOCUS       NM_138422               1599 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens adenosine deaminase tRNA specific 3 (ADAT3),
            transcript variant 1, mRNA.
ACCESSION   NM_138422
VERSION     NM_138422.4
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 1599)
  AUTHORS   Yahia,A., Ayed,I.B., Hamed,A.A., Mohammed,I.N., Elseed,M.A.,
            Bakhiet,A.M., Guillot-Noel,L., Abozar,F., Adil,R., Emad,S.,
            Abubaker,R., Musallam,M.A., Eltazi,I.Z.M., Omer,Z., Maaroof,O.M.,
            Soussi,A., Bouzid,A., Kmiha,S., Kamoun,H., Salih,M.A., Ahmed,A.E.,
            Elsayed,L., Masmoudi,S. and Stevanin,G.
  TITLE     Genetic diagnosis in Sudanese and Tunisian families with syndromic
            intellectual disability through exome sequencing
  JOURNAL   Ann Hum Genet 86 (4), 181-194 (2022)
   PUBMED   35118659
  REMARK    GeneRIF: Genetic diagnosis in Sudanese and Tunisian families with
            syndromic intellectual disability through exome sequencing.
REFERENCE   2  (bases 1 to 1599)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1599)
  AUTHORS   Ramos,J., Proven,M., Halvardson,J., Hagelskamp,F., Kuchinskaya,E.,
            Phelan,B., Bell,R., Kellner,S.M., Feuk,L., Thuresson,A.C. and Fu,D.
  TITLE     Identification and rescue of a tRNA wobble inosine deficiency
            causing intellectual disability disorder
  JOURNAL   RNA 26 (11), 1654-1666 (2020)
   PUBMED   32763916
  REMARK    GeneRIF: Identification and rescue of a tRNA wobble inosine
            deficiency causing intellectual disability disorder.
REFERENCE   4  (bases 1 to 1599)
  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   5  (bases 1 to 1599)
  AUTHORS   Ramos,J., Han,L., Li,Y., Hagelskamp,F., Kellner,S.M.,
            Alkuraya,F.S., Phizicky,E.M. and Fu,D.
  TITLE     Formation of tRNA Wobble Inosine in Humans Is Disrupted by a
            Millennia-Old Mutation Causing Intellectual Disability
  JOURNAL   Mol Cell Biol 39 (19), e00203-19 (2019)
   PUBMED   31263000
  REMARK    GeneRIF: Study demonstrates that cells isolated from intellectual
            disability patients with homozygous for the ADAT3-V144M mutation
            contain diminished levels of wobble inosine in several tRNA
            isoacceptors. V144M mutation compromises the adenosine deaminase
            activity of ADAT2/3 complexes, increases the propensity of ADAT3 to
            oligomerize, and alters the subcellular localization properties of
            ADAT3.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1599)
  AUTHORS   El-Hattab,A.W., Saleh,M.A., Hashem,A., Al-Owain,M., Asmari,A.A.,
            Rabei,H., Abdelraouf,H., Hashem,M., Alazami,A.M., Patel,N.,
            Shaheen,R., Faqeih,E.A. and Alkuraya,F.S.
  TITLE     ADAT3-related intellectual disability: Further delineation of the
            phenotype
  JOURNAL   Am J Med Genet A 170A (5), 1142-1147 (2016)
   PUBMED   26842963
  REMARK    GeneRIF: ADAT3-related intellectual disability is an important
            recognizable cause of intellectual disability in Arabia
REFERENCE   7  (bases 1 to 1599)
  AUTHORS   Torres,A.G., Pineyro,D., Rodriguez-Escriba,M., Camacho,N.,
            Reina,O., Saint-Leger,A., Filonava,L., Batlle,E. and Ribas de
            Pouplana,L.
  TITLE     Inosine modifications in human tRNAs are incorporated at the
            precursor tRNA level
  JOURNAL   Nucleic Acids Res 43 (10), 5145-5157 (2015)
   PUBMED   25916855
REFERENCE   8  (bases 1 to 1599)
  AUTHORS   Torres,A.G., Pineyro,D., Filonava,L., Stracker,T.H., Batlle,E. and
            Ribas de Pouplana,L.
  TITLE     A-to-I editing on tRNAs: biochemical, biological and evolutionary
            implications
  JOURNAL   FEBS Lett 588 (23), 4279-4286 (2014)
   PUBMED   25263703
  REMARK    Review article
REFERENCE   9  (bases 1 to 1599)
  AUTHORS   Alazami,A.M., Hijazi,H., Al-Dosari,M.S., Shaheen,R., Hashem,A.,
            Aldahmesh,M.A., Mohamed,J.Y., Kentab,A., Salih,M.A., Awaji,A.,
            Masoodi,T.A. and Alkuraya,F.S.
  TITLE     Mutation in ADAT3, encoding adenosine deaminase acting on transfer
            RNA, causes intellectual disability and strabismus
  JOURNAL   J Med Genet 50 (7), 425-430 (2013)
   PUBMED   23620220
  REMARK    GeneRIF: A single missense mutation was identified in ADAT3 in all
            studied families on an ancient ancestral haplotype.
REFERENCE   10 (bases 1 to 1599)
  AUTHORS   Schaub,M. and Keller,W.
  TITLE     RNA editing by adenosine deaminases generates RNA and protein
            diversity
  JOURNAL   Biochimie 84 (8), 791-803 (2002)
   PUBMED   12457566
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB127534.1 and BC011824.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_138422.3.
            
            Summary: This gene encodes a subunit of a tRNA-specific adenosine
            deaminase. This heterodimeric enzyme converts adenosine to inosine
            in the tRNA anticodon. A mutation in this gene causes a syndrome
            characterized by intellectual disability and strabismus. This gene
            shares its 5' exon with the overlapping gene, secretory carrier
            membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC011824.1, SRR1163655.520096.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329478.4/ ENSP00000332448.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DB127534.1         186-204
            20-1599             BC011824.1         1-1580
FEATURES             Location/Qualifiers
     source          1..1599
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1599
                     /gene="ADAT3"
                     /gene_synonym="FWP005; MRT36; MST121; MSTP121; NEDBGF;
                     S863-5; TAD3"
                     /note="adenosine deaminase tRNA specific 3"
                     /db_xref="GeneID:113179"
                     /db_xref="HGNC:HGNC:25151"
                     /db_xref="MIM:615302"
     exon            1..41
                     /gene="ADAT3"
                     /gene_synonym="FWP005; MRT36; MST121; MSTP121; NEDBGF;
                     S863-5; TAD3"
                     /inference="alignment:Splign:2.1.0"
     exon            42..1599
                     /gene="ADAT3"
                     /gene_synonym="FWP005; MRT36; MST121; MSTP121; NEDBGF;
                     S863-5; TAD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..1303
                     /gene="ADAT3"
                     /gene_synonym="FWP005; MRT36; MST121; MSTP121; NEDBGF;
                     S863-5; TAD3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable inactive tRNA-specific adenosine deaminase-like
                     protein 3; tRNA-specific adenosine-34 deaminase subunit
                     ADAT3; adenosine deaminase, tRNA-specific 3, TAD3 homolog"
                     /codon_start=1
                     /product="probable inactive tRNA-specific adenosine
                     deaminase-like protein 3 isoform 1"
                     /protein_id="NP_612431.2"
                     /db_xref="CCDS:CCDS12076.2"
                     /db_xref="GeneID:113179"
                     /db_xref="HGNC:HGNC:25151"
                     /db_xref="MIM:615302"
                     /translation="MILCSRLCLPQSASLRMEPAPGLVEQPKCLEAGSPEPEPAPWQA
                     LPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHLKRVRPSRDAGS
                     PHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARA
                     HWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDP
                     ASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGRGTYDFRPFPACSFAPAAAPQAV
                     RAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARILRVFYGAPSPDGALG
                     TRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT"
     regulatory      1580..1585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADAT3"
                     /gene_synonym="FWP005; MRT36; MST121; MSTP121; NEDBGF;
                     S863-5; TAD3"
                     /note="hexamer: AATAAA"
     polyA_site      1599
                     /gene="ADAT3"
                     /gene_synonym="FWP005; MRT36; MST121; MSTP121; NEDBGF;
                     S863-5; TAD3"
                     /note="major polyA site"
ORIGIN      
        1 aagacttggc gaagcgctgc gctcgcgccc ggatccctca ggggttagca ggacatgagg
       61 gagtgtagct ctgatgcggt gacctgggcc ggagccctcg gactagcctc agctttggtg
      121 gcagcacgcc ctgccttgtg gagccacggc ctcccgggac ggactccccg gctctccccc
      181 agccgcccgc agccgccgga tgatcctctg ctcccgtctc tgtctcccac agtcggcctc
      241 gctgaggatg gagcccgccc cgggcctcgt ggagcagccc aagtgcttgg aggccgggag
      301 cccggagcct gagccggcgc cgtggcaggc cctccctgtc ctgtccgaga agcagtcagg
      361 ggacgtggag ctggtgctgg cctacgccgc gcccgtcctg gacaagcgcc agacctcacg
      421 cctcctgaag gaggtgtcgg ccctgcaccc gctccccgcc cagcctcacc tcaagcgggt
      481 gcggcccagc cgcgatgccg gcagccccca cgccctggag atgctgcttt gcctggctgg
      541 gccggcctcg ggcccgcgct cgctggctga gctcctgcca cggccggctg tggacccccg
      601 cggcctgggg caacccttcc tggtgcccgt gcccgcccgg ccgcctctga ccaggggcca
      661 gttcgaggag gcccgggccc actggcccac gtccttccac gaggacaagc aggtgaccag
      721 cgccctggct gggcggctct tctccacgca ggagcgcgcc gccatgcaga gccacatgga
      781 gcgggcggtg tgggcggccc ggcgggcagc agcgcggggc ttgcgggccg tgggggccgt
      841 ggtagtggac ccggcctcgg accgcgtgct ggccaccggc cacgactgca gctgcgcgga
      901 caaccccctc ctgcacgccg tcatggtgtg cgtggacctc gtggcgcgcg gccagggccg
      961 cggcacctac gacttcagac ccttccccgc ctgctccttc gccccggccg ctgcccccca
     1021 ggccgtccgc gcaggcgccg tgcgtaaact ggacgcagac gaggacggcc tcccctacct
     1081 gtgcactggc tacgacctgt acgtgacccg cgagccctgc gccatgtgcg ccatggccct
     1141 ggtgcacgca cgcatcctgc gcgtcttcta cggtgcgccc tcgcccgacg gcgccctggg
     1201 cacccgcttc cgcatccacg cacggcccga cctcaaccac cgcttccagg tgttccgcgg
     1261 ggtgctggag gagcagtgcc gctggctgga ccccgacacg taggcgccgc cctcctgcct
     1321 ccggaccctt cccgctcccg gccgtggggc gcccctcctg gacttccggg cctcgatttc
     1381 ttccgcacaa gcctgaccgt ggatttcagg gacacatacc gcctccagcg gggagcacgg
     1441 gtgctgcctt ccgtgcggat cgagctttcc tggactcggt cattggggcc accccgtgcc
     1501 agcggtgccc ttctgcggcc gcccttgctg cgtttgtgtc ccctctgtct cgcgggccgg
     1561 gaaactgctc tgatgggaaa ataaacagcc caaaaccaa
//
