LOCUS       NM_138615               3855 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens DExH-box helicase 30 (DHX30), transcript variant 1,
            mRNA.
ACCESSION   NM_138615
VERSION     NM_138615.3
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 3855)
  AUTHORS   Park,E.G., Seo,G.H. and Yang,A.
  TITLE     DHX30-Associated Neurodevelopmental Disorder with Severe Motor
            Impairment and Absent Language: First Korean Case in Two Siblings
            and Literature Review
  JOURNAL   Ann Clin Lab Sci 53 (2), 325-333 (2023)
   PUBMED   37094863
  REMARK    GeneRIF: DHX30-Associated Neurodevelopmental Disorder with Severe
            Motor Impairment and Absent Language: First Korean Case in Two
            Siblings and Literature Review.
            Review article
REFERENCE   2  (bases 1 to 3855)
  AUTHORS   Hikiami,R., Morimura,T., Ayaki,T., Tsukiyama,T., Morimura,N.,
            Kusui,M., Wada,H., Minamiyama,S., Shodai,A., Asada-Utsugi,M.,
            Muramatsu,S.I., Ueki,T., Takahashi,R. and Urushitani,M.
  TITLE     Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS
            induces mitochondrial dysfunction and cytosolic aggregates
  JOURNAL   Sci Rep 12 (1), 16030 (2022)
   PUBMED   36163369
  REMARK    GeneRIF: Conformational change of RNA-helicase DHX30 by
            ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic
            aggregates.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3855)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3855)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   5  (bases 1 to 3855)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   6  (bases 1 to 3855)
  AUTHORS   Ye,P., Liu,S., Zhu,Y., Chen,G. and Gao,G.
  TITLE     DEXH-Box protein DHX30 is required for optimal function of the
            zinc-finger antiviral protein
  JOURNAL   Protein Cell 1 (10), 956-964 (2010)
   PUBMED   21204022
REFERENCE   7  (bases 1 to 3855)
  AUTHORS   Zhou,Y., Ma,J., Bushan Roy,B., Wu,J.Y., Pan,Q., Rong,L. and
            Liang,C.
  TITLE     The packaging of human immunodeficiency virus type 1 RNA is
            restricted by overexpression of an RNA helicase DHX30
  JOURNAL   Virology 372 (1), 97-106 (2008)
   PUBMED   18022663
  REMARK    GeneRIF: Here, we provide evidence that overexpression of an RNA
            helicase named DHX30 enhances HIV-1 gene expression, but leads to
            the generation of viruses that package significantly low levels of
            viral RNA and exhibit severely decreased infectivity.
REFERENCE   8  (bases 1 to 3855)
  AUTHORS   Bogenhagen,D.F., Rousseau,D. and Burke,S.
  TITLE     The layered structure of human mitochondrial DNA nucleoids
  JOURNAL   J Biol Chem 283 (6), 3665-3675 (2008)
   PUBMED   18063578
  REMARK    GeneRIF: Identifies DHX30 as a nucleoid protein.
REFERENCE   9  (bases 1 to 3855)
  AUTHORS   Hock,J., Weinmann,L., Ender,C., Rudel,S., Kremmer,E., Raabe,M.,
            Urlaub,H. and Meister,G.
  TITLE     Proteomic and functional analysis of Argonaute-containing
            mRNA-protein complexes in human cells
  JOURNAL   EMBO Rep 8 (11), 1052-1060 (2007)
   PUBMED   17932509
REFERENCE   10 (bases 1 to 3855)
  AUTHORS   Wang,Y. and Bogenhagen,D.F.
  TITLE     Human mitochondrial DNA nucleoids are linked to protein folding
            machinery and metabolic enzymes at the mitochondrial inner membrane
  JOURNAL   J Biol Chem 281 (35), 25791-25802 (2006)
   PUBMED   16825194
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC047335.1, AB020697.1 and
            CD368247.1.
            
            On Nov 23, 2018 this sequence version replaced NM_138615.2.
            
            Summary: DEAD box proteins, characterized by the conserved motif
            Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are
            implicated in a number of cellular processes involving alteration
            of RNA secondary structure such as translation initiation, nuclear
            and mitochondrial splicing, and ribosome and spliceosome assembly.
            Based on their distribution patterns, some members of this DEAD box
            protein family are believed to be involved in embryogenesis,
            spermatogenesis, and cellular growth and division. The family
            member encoded by this gene is a mitochondrial nucleoid protein
            that associates with mitochondrial DNA. It has also been identified
            as a component of a transcriptional repressor complex that
            functions in retinal development, and it is required to optimize
            the function of the zinc-finger antiviral protein. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (1) 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 :: BC028405.1, SRR1660809.198360.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 18063578
            MANE Ensembl match                 :: ENST00000445061.6/
                                                  ENSP00000405620.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                BC047335.1         230-283
            55-3854             AB020697.1         1-3800
            3855-3855           CD368247.1         21-21               c
FEATURES             Location/Qualifiers
     source          1..3855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..3855
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /note="DExH-box helicase 30"
                     /db_xref="GeneID:22907"
                     /db_xref="HGNC:HGNC:16716"
                     /db_xref="MIM:616423"
     exon            1..75
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            76..170
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            171..225
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..3782
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /EC_number="3.6.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30; putative
                     ATP-dependent RNA helicase DHX30; retina co-repressor;
                     DEAH box protein 30; DEAH (Asp-Glu-Ala-His) box
                     polypeptide 30; DEAH (Asp-Glu-Ala-His) box helicase 30;
                     DEAH-box helicase 30"
                     /codon_start=1
                     /product="ATP-dependent RNA helicase DHX30 isoform 1"
                     /protein_id="NP_619520.1"
                     /db_xref="CCDS:CCDS2759.1"
                     /db_xref="GeneID:22907"
                     /db_xref="HGNC:HGNC:16716"
                     /db_xref="MIM:616423"
                     /translation="MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASR
                     DLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGY
                     GSKKIDAERQAAAAACQLFKGWGLLGPRNELFDAAKYRVLADRFGSPADSWWRPEPTM
                     PPTSWRQLNPESIRPGGPGGLSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAP
                     LRDSRGSSFEMTDDDSAIRALTQFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTK
                     LSTLTLLWPCPMTFVAKGRRKAEAENKAAALACKKLKSLGLVDRNNEPLTHAMYNLAS
                     LRELGETQRRPCTIQVPEPILRKIETFLNHYPVESSWIAPELRLQSDDILPLGKDSGP
                     LSDPITGKPYVPLLEAEEVRLSQSLLELWRRRGPVWQEAPQLPVDPHRDTILNAIEQH
                     PVVVISGDTGCGKTTRIPQLLLERYVTEGRGARCNVIITQPRRISAVSVAQRVSHELG
                     PSLRRNVGFQVRLESKPPSRGGALLFCTVGILLRKLQSNPSLEGVSHVIVDEVHERDV
                     NTDFLLILLKGLQRLNPALRLVLMSATGDNERFSRYFGGCPVIKVPGFMYPVKEHYLE
                     DILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVLHIDARGEPGGILCFLPGWQEIK
                     GVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQPPVGVRKIVLATNIAETSITI
                     NDIVHVVDSGLHKEERYDLKTKVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRS
                     RLEKMVPFQVPEILRTPLENLVLQAKIHMPEKTAVEFLSKAVDSPNIKAVDEAVILLQ
                     EIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLLVVVSCLTRDPFSSS
                     LQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSRENYLEENLLYAPSL
                     RFIHGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLMAGLYPNLIQV
                     RQGKVTRQGKFKPNSVTYRTKSGNILLHKSTINREATRLRSRWLTYFMAVKSNGSVFV
                     RDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDLLRLEGDSRTVRLLKELRRALG
                     RMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD"
     exon            226..321
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            322..452
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            453..563
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            564..865
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            866..986
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1136
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1289
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..2126
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2127..2202
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2307
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2308..2483
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2484..2690
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2691..2772
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2773..2966
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            2967..3126
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            3127..3284
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            3285..3388
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            3389..3528
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     exon            3529..3855
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3830..3835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /note="hexamer: AATAAA"
     polyA_site      3855
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /note="major polyA site"
ORIGIN      
        1 gtagtccggc cgtggttggg ggagccgcgg ctcatgcgcg gtgcacagag gcttgtttca
       61 catctgtaac aacaggagga ggcccagcct cgtgatgagg aatagcaagg agagaattca
      121 gctccagttc aaaagcctac aaaatctgag actgtcattg cttttataag gattccagct
      181 ttccctcctg gccagaaatg ttcagcctgg actcattcag aaaagatcgg gcccagcaca
      241 ggcagcgtca gtgcaaactt cccccacccc gccttccacc catgtgtgtc aaccctaccc
      301 caggagggac catctctcga gcttctaggg acctattaaa agagttccca cagcccaaaa
      361 atcttctcaa cagtgtgatt ggaagagccc tcggcatctc acatgcaaaa gacaaactag
      421 tctacgtgca cacaaatgga ccgaagaaaa agaaagtcac actgcacata aaatggccca
      481 agagcgtgga ggtagaaggc tatggcagca agaagatcga tgctgagcgg caggctgcag
      541 ctgcagcctg ccagctgttc aagggttggg gtctgctagg tccccggaat gagttgtttg
      601 acgcagccaa ataccgagtg ctagctgatc gctttggctc ccctgccgac agctggtggc
      661 gtccggaacc caccatgccc cctacttcct ggcggcagct gaatccagag agtattcgac
      721 cagggggacc tgggggccta tcccgctctt taggccggga agaagaggag gacgaggagg
      781 aagagctaga agaagggacc atagatgtta ccgacttctt gtccatgacc cagcaggatt
      841 cccacgctcc actcagggac tcaaggggga gttcctttga gatgacagat gacgacagtg
      901 ccattagggc tctgacccag tttccacttc ccaagaacct tctggccaag gtgattcaga
      961 ttgcaacgtc atcctccaca gctaagaacc tcatgcagtt ccatactgtg ggcaccaaga
     1021 ccaagctgtc tacactcacc ctgctctggc cctgccccat gacctttgtt gccaaagggc
     1081 gccgcaaagc agaggctgag aataaggcgg cagccttggc ctgcaagaaa ctgaagagcc
     1141 tgggcctggt ggacaggaac aacgaaccgc ttacacacgc catgtataac ctggcctctt
     1201 tgcgtgagct gggtgagacc cagcgccgac catgcaccat ccaggtgccc gagcccatcc
     1261 tccgcaagat agagaccttc ctgaaccatt accctgtgga gagttcatgg atcgccccag
     1321 aactccggct gcagagtgat gacatcttgc ccttgggcaa ggactcaggg cctctgagtg
     1381 accctatcac aggcaagccc tatgtgcccc tgttggaagc agaggaggta cgtctcagcc
     1441 agagtctgct agaactgtgg cggcggcgag ggccggtctg gcaggaggcc ccccagctac
     1501 ctgtggaccc acatcgggac accatcctca acgccattga gcagcacccg gtggtggtca
     1561 tctctgggga cacgggctgt gggaagacca cgcgcatccc ccagctgttg ctggagcgct
     1621 atgtgaccga gggccgaggt gcccgctgca atgttatcat cacccaacct cgccgcatct
     1681 ctgctgtgtc tgtggcacag cgggtcagcc acgaactggg cccctccctg cgccggaatg
     1741 tgggcttcca ggtgcggttg gaaagtaagc ccccatcccg aggcggggcc ctgctcttct
     1801 gcactgtggg tatcctgctg cgtaagctgc agagcaaccc cagcctggag ggcgtgagcc
     1861 acgtcatcgt ggatgaggtg catgagcggg acgtgaacac agactttctg ctgatcctgc
     1921 tcaagggcct gcagcggctc aacccggccc tgcggctggt gctcatgagt gccacagggg
     1981 acaatgagcg cttctcccga tactttggtg gctgccccgt catcaaggtg cctggcttca
     2041 tgtacccagt caaggagcac tacctagagg acatcctggc caagttgggc aagcaccagt
     2101 acctgcaccg gcaccggcac catgagtctg aggatgaatg cgcactcgat ttggaccttg
     2161 tgactgatct ggttctgcac atcgatgctc gcggggaacc aggtgggatc ctgtgcttcc
     2221 tgcctgggtg gcaggagatc aaaggagtgc agcagcgcct ccaggaggcc ctgggcatgc
     2281 acgagagcaa gtacctcatc ctgccagtgc actccaacat ccccatgatg gatcagaagg
     2341 ccatattcca gcagcctcca gttggggtgc gcaagattgt cttggccacc aacattgctg
     2401 agacttccat cacaatcaat gacatcgtgc atgtggtgga cagtgggctg cacaaggaag
     2461 aacgctatga cctgaagacc aaggtgtcct gcctggagac agtgtgggta tcaagagcca
     2521 atgtgatcca gcgccggggc cgggcgggcc gctgccagtc cggctttgcc taccacttgt
     2581 tccctcgaag ccggctggag aaaatggtcc ctttccaagt gccagagatc ctgcgcacac
     2641 ctcttgagaa cctggtgctg caagcgaaaa tccacatgcc tgagaagacg gcggtggagt
     2701 tcctgtccaa ggctgtggac agtccaaaca tcaaggcagt ggacgaggct gtgatcttgc
     2761 tccaggagat cggggtgctg gaccagcggg agtacctgac taccctgggg cagcgcctgg
     2821 ctcacatctc caccgacccc cggttggcca aggccattgt gttggctgcc atcttccgtt
     2881 gcctgcaccc actactggtg gtcgtttcct gcctcacccg ggaccccttc agcagcagcc
     2941 tacagaaccg ggcagaggtg gacaaggtga aagcactgtt gagccatgac agcggcagtg
     3001 accacctggc ctttgtgcgg gctgtcgccg gctgggagga ggtgctgcgt tggcaggacc
     3061 gcagctcccg ggagaattac ctggaggaaa acctgctgta cgcacccagc ctgcgcttca
     3121 tccacggact catcaagcag ttctcagaga acatttatga ggccttcctg gtggggaagc
     3181 cctcggactg caccctggcc tccgcccagt gcaacgagta cagtgaggag gaggagctgg
     3241 tgaagggcgt gctgatggcc ggcctctacc ccaacctcat ccaggtgagg cagggcaagg
     3301 tcacccggca ggggaagttc aagcccaaca gcgtcacata taggaccaaa tcaggcaaca
     3361 tcctgctgca caagtcgacc attaacaggg aggccacacg gttacggagc cgatggctga
     3421 cgtatttcat ggcagtcaag tccaatggca gcgtcttcgt ccgggactcc tctcaggtgc
     3481 acccgctagc tgtgctgctg ctgaccgacg gggacgtgca catccgtgat gacgggcgcc
     3541 gggccaccat ctcactgagc gacagtgacc tgctgcggct ggagggtgac tcgcgtaccg
     3601 tgcggctgct gaaggagctg cggcgggccc tgggccgcat ggtggagcgg agcctgcgca
     3661 gcgagctggc tgcacttccc cccagcgtac aggaggagca cgggcagctg cttgcgctac
     3721 tggcagagct gctgcgagga ccctgtggca gctttgatgt gcgcaagaca gctgacgact
     3781 gagccctgct tctgctgggg ctgtgtacag agtgcaaatg tttatttaaa ataaagttct
     3841 atttatccct tgtga
//
