LOCUS       NM_024339               1411 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens THO complex subunit 6 (THOC6), transcript variant 1,
            mRNA.
ACCESSION   NM_024339
VERSION     NM_024339.5
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 1411)
  AUTHORS   Ruaud,L., Roux,N., Boutaud,L., Bessieres,B., Ageorges,F.,
            Achaiaa,A., Bole,C., Nitschke,P., Masson,C., Vekemans,M.,
            Verloes,A. and Attie-Bitach,T.
  TITLE     Biallelic THOC6 pathogenic variants: Prenatal phenotype and review
            of the literature
  JOURNAL   Birth Defects Res 114 (10), 499-504 (2022)
   PUBMED   35426486
  REMARK    GeneRIF: Biallelic THOC6 pathogenic variants: Prenatal phenotype
            and review of the literature.
            Review article
REFERENCE   2  (bases 1 to 1411)
  AUTHORS   Amos,J.S., Huang,L., Thevenon,J., Kariminedjad,A., Beaulieu,C.L.,
            Masurel-Paulet,A., Najmabadi,H., Fattahi,Z., Beheshtian,M.,
            Tonekaboni,S.H., Tang,S., Helbig,K.L., Alcaraz,W., Riviere,J.B.,
            Faivre,L., Innes,A.M., Lebel,R.R. and Boycott,K.M.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Autosomal recessive mutations in THOC6 cause intellectual
            disability: syndrome delineation requiring forward and reverse
            phenotyping
  JOURNAL   Clin Genet 91 (1), 92-99 (2017)
   PUBMED   27102954
  REMARK    GeneRIF: Results indicate three unrelated patients with bi-allelic
            mutations in THOC6 associated with intellectual disability and
            additional clinical features.
REFERENCE   3  (bases 1 to 1411)
  AUTHORS   Anazi,S., Alshammari,M., Moneis,D., Abouelhoda,M., Ibrahim,N. and
            Alkuraya,F.S.
  TITLE     Confirming the candidacy of THOC6 in the etiology of intellectual
            disability
  JOURNAL   Am J Med Genet A 170A (5), 1367-1369 (2016)
   PUBMED   26739162
  REMARK    GeneRIF: In addition to confirming the morbid nature of THOC6 by
            providing an independent homozygous apparently loss of function
            allele in a patient with a compatible phenotype, our data also
            expand THOC6-related phenotype to include previously unreported
            imperforate anus and undescended testicles.
REFERENCE   4  (bases 1 to 1411)
  AUTHORS   Beaulieu,C.L., Huang,L., Innes,A.M., Akimenko,M.A.,
            Puffenberger,E.G., Schwartz,C., Jerry,P., Ober,C., Hegele,R.A.,
            McLeod,D.R., Schwartzentruber,J., Majewski,J., Bulman,D.E.,
            Parboosingh,J.S. and Boycott,K.M.
  CONSRTM   FORGE Canada Consortium
  TITLE     Intellectual disability associated with a homozygous missense
            mutation in THOC6
  JOURNAL   Orphanet J Rare Dis 8, 62 (2013)
   PUBMED   23621916
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1411)
  AUTHORS   Grolimund,L., Aeby,E., Hamelin,R., Armand,F., Chiappe,D.,
            Moniatte,M. and Lingner,J.
  TITLE     A quantitative telomeric chromatin isolation protocol identifies
            different telomeric states
  JOURNAL   Nat Commun 4, 2848 (2013)
   PUBMED   24270157
REFERENCE   6  (bases 1 to 1411)
  AUTHORS   Boyne,J.R., Colgan,K.J. and Whitehouse,A.
  TITLE     Recruitment of the complete hTREX complex is required for Kaposi's
            sarcoma-associated herpesvirus intronless mRNA nuclear export and
            virus replication
  JOURNAL   PLoS Pathog 4 (10), e1000194 (2008)
   PUBMED   18974867
REFERENCE   7  (bases 1 to 1411)
  AUTHORS   Cheng,H., Dufu,K., Lee,C.S., Hsu,J.L., Dias,A. and Reed,R.
  TITLE     Human mRNA export machinery recruited to the 5' end of mRNA
  JOURNAL   Cell 127 (7), 1389-1400 (2006)
   PUBMED   17190602
REFERENCE   8  (bases 1 to 1411)
  AUTHORS   Masuda,S., Das,R., Cheng,H., Hurt,E., Dorman,N. and Reed,R.
  TITLE     Recruitment of the human TREX complex to mRNA during splicing
  JOURNAL   Genes Dev 19 (13), 1512-1517 (2005)
   PUBMED   15998806
REFERENCE   9  (bases 1 to 1411)
  AUTHORS   Guo,S., Hakimi,M.A., Baillat,D., Chen,X., Farber,M.J.,
            Klein-Szanto,A.J., Cooch,N.S., Godwin,A.K. and Shiekhattar,R.
  TITLE     Linking transcriptional elongation and messenger RNA export to
            metastatic breast cancers
  JOURNAL   Cancer Res 65 (8), 3011-3016 (2005)
   PUBMED   15833825
REFERENCE   10 (bases 1 to 1411)
  AUTHORS   Lemire,G., Innes,A.M. and Boycott,K.M.
  TITLE     THOC6 Intellectual Disability Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32790266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX425088.2, BC050674.1 and
            BM457458.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024339.4.
            
            Summary: This gene encodes a subunit of the multi-protein THO
            complex, which is involved in coordination between transcription
            and mRNA processing. The THO complex is a component of the TREX
            (transcription/export) complex, which is involved in transcription
            and export of mRNAs. A missense mutation in this gene is associated
            with a neurodevelopmental disorder called Beaulieu-Boycott-Innes
            syndrome. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Variants 1 and 4
            encode the same isoform.
            
            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 :: SRR1163658.158290.1,
                                           SRR5189661.384.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326266.13/ ENSP00000326531.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                BX425088.2         17-73
            58-1385             BC050674.1         1-1328
            1386-1411           BM457458.1         381-406
FEATURES             Location/Qualifiers
     source          1..1411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1411
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /note="THO complex subunit 6"
                     /db_xref="GeneID:79228"
                     /db_xref="HGNC:HGNC:28369"
                     /db_xref="MIM:615403"
     exon            1..331
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     CDS             293..1318
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat domain 58; functional spliceosome-associated
                     protein 35; THO complex subunit 6 homolog; WD
                     repeat-containing protein 58; THO complex 6"
                     /codon_start=1
                     /product="THO complex subunit 6 isoform 1"
                     /protein_id="NP_077315.2"
                     /db_xref="CCDS:CCDS10491.1"
                     /db_xref="GeneID:79228"
                     /db_xref="HGNC:HGNC:28369"
                     /db_xref="MIM:615403"
                     /translation="MERAVPLAVPLGQTEVFQALQRLHMTIFSQSVSPCGKFLAAGNN
                     YGQIAIFSLSSALSSEAKEESKKPVVTFQAHDGPVYSMVSTDRHLLSAGDGEVKAWLW
                     AEMLKKGCKELWRRQPPYRTSLEVPEINALLLVPKENSLILAGGDCQLHTMDLETGTF
                     TRVLRGHTDYIHCLALRERSPEVLSGGEDGAVRLWDLRTAKEVQTIEVYKHEECSRPH
                     NGRWIGCLATDSDWMVCGGGPALTLWHLRSSTPTTIFPIRAPQKHVTFYQDLILSAGQ
                     GRCVNQWQLSGELKAQVPGSSPGLLSLSLNQQPAAPECKVLTAAGNSCRVDVFTNLGY
                     RAFSLSF"
     exon            332..447
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            448..512
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            513..616
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            617..654
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            655..703
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            704..775
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            776..878
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            879..928
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            929..991
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1102
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1237
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1411
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1390..1395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /note="hexamer: AATAAA"
     polyA_site      1411
                     /gene="THOC6"
                     /gene_synonym="fSAP35; MMRFCGU; WDR58"
                     /note="major polyA site"
ORIGIN      
        1 acagccgcga ggttctgcgc gggcgcggaa gacgggcggc gcgtggcgga aggcaggctt
       61 gctcctcggg gtgggggagg gtatccggct taagggggct gcggtggaca ccacttctta
      121 atgtcggggg tcttcgcggc gctcacctcg gctcctaggg ttcgggacgg tacgcaccag
      181 ccaccttcgc gccgaaggcg gtagggcgcc acggagagga accgctctag gcacgtaagg
      241 cctcgtgagg ttgcgtcgcg cgcggagcac tctgggactt gtagttctgg agatggagcg
      301 agctgtgccg ctcgcggtgc ctctgggtca gacagaggtg ttccaggcct tgcagcggct
      361 ccatatgacc atcttctccc agagcgtctc accatgtggg aagtttctgg cggctggcaa
      421 caattacggg cagattgcca tcttcagctt gtcctctgct ttgagctcag aagccaaaga
      481 ggaaagtaag aagccggtgg tgactttcca agcccatgat gggcccgtct atagcatggt
      541 ttccaccgat cgacatctgc ttagtgctgg ggatggggag gtgaaggcct ggctttgggc
      601 ggagatgctc aagaagggct gtaaggagct gtggcgtcgt cagcctccat acaggaccag
      661 cctggaagtg cctgagatca acgctttgct gctggtcccc aaggagaatt ccctcatcct
      721 ggctggggga gactgtcagt tgcacactat ggaccttgaa actgggactt tcacgagggt
      781 cctccggggc cacacagact acatccactg cctggcactg cgggaaagga gcccagaggt
      841 gctgtcaggt ggcgaggatg gagctgttcg actttgggac ctgcgcacag ccaaggaggt
      901 ccagacgatc gaggtctata agcacgagga gtgctcgagg ccccacaatg ggcgctggat
      961 tggatgtttg gcaactgatt ccgactggat ggtctgtgga gggggcccag ccctcaccct
     1021 ctggcacctc cgatcctcca cacccaccac catcttcccc atccgggcgc cacagaagca
     1081 cgtcaccttc taccaggacc tgattctgtc agctggccag ggccgctgcg tcaaccagtg
     1141 gcagctgagc ggggagctga aggcccaggt gcctggctcc tccccagggc tgctcagcct
     1201 cagcctcaac cagcagcctg ccgcgcctga gtgcaaggtc ctgacagctg caggcaacag
     1261 ctgccgggtg gatgtcttca ccaacctggg ttaccgagcc ttctccctgt ccttctgatc
     1321 tctgacgaca cccccagcca gctcagggtt ttagagtgtt tttcattttc tttttttttt
     1381 tttttttaca ataaagtttc aggctttttt a
//
