LOCUS       NM_017633               5582 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens terminal nucleotidyltransferase 5A (TENT5A), mRNA.
ACCESSION   NM_017633
VERSION     NM_017633.3
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 5582)
  AUTHORS   Min,K., Li,Y., Wu,Z., Dai,Z., Feng,Z., Qian,Z., Sun,X., Qiu,Y.,
            Xu,L. and Zhu,Z.
  TITLE     A Genetic Variant of FAM46A is Associated With the Development of
            Adolescent Idiopathic Scoliosis in the Chinese Population
  JOURNAL   Spine (Phila Pa 1976) 48 (17), 1253-1258 (2023)
   PUBMED   37141460
  REMARK    GeneRIF: A Genetic Variant of FAM46A is Associated With the
            Development of Adolescent Idiopathic Scoliosis in the Chinese
            Population.
REFERENCE   2  (bases 1 to 5582)
  AUTHORS   Luo,M., Yang,H., Wu,D., You,X., Huang,S. and Song,Y.
  TITLE     Tent5a modulates muscle fiber formation in adolescent idiopathic
            scoliosis via maintenance of myogenin expression
  JOURNAL   Cell Prolif 55 (3), e13183 (2022)
   PUBMED   35137485
  REMARK    GeneRIF: Tent5a modulates muscle fiber formation in adolescent
            idiopathic scoliosis via maintenance of myogenin expression.
REFERENCE   3  (bases 1 to 5582)
  AUTHORS   Gewartowska,O., Aranaz-Novaliches,G., Krawczyk,P.S., Mroczek,S.,
            Kusio-Kobialka,M., Tarkowski,B., Spoutil,F., Benada,O.,
            Kofronova,O., Szwedziak,P., Cysewski,D., Gruchota,J., Szpila,M.,
            Chlebowski,A., Sedlacek,R., Prochazka,J. and Dziembowski,A.
  TITLE     Cytoplasmic polyadenylation by TENT5A is required for proper bone
            formation
  JOURNAL   Cell Rep 35 (3), 109015 (2021)
   PUBMED   33882302
REFERENCE   4  (bases 1 to 5582)
  AUTHORS   Wang,Y., Cai,R., Wang,P., Huang,C., Zhang,C. and Liu,Z.
  TITLE     FAM46A expression is elevated in glioblastoma and predicts poor
            prognosis of patients
  JOURNAL   Clin Neurol Neurosurg 201, 106421 (2021)
   PUBMED   33370626
  REMARK    GeneRIF: FAM46A expression is elevated in glioblastoma and predicts
            poor prognosis of patients.
REFERENCE   5  (bases 1 to 5582)
  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   6  (bases 1 to 5582)
  AUTHORS   Cui,J., Wang,W., Lai,M.D., Xu,E.P., Lv,B.J., Lin,J., Ruan,W.J.,
            Ma,Y. and Yao,C.
  TITLE     Identification of a novel VNTR polymorphism in C6orf37 and its
            association with colorectal cancer risk in Chinese population
  JOURNAL   Clin Chim Acta 368 (1-2), 155-159 (2006)
   PUBMED   16545789
  REMARK    GeneRIF: A novel VNTR polymorphism in C6orf37 exists in Chinese
            population and is not associated with colorectal cancer risk
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 5582)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   8  (bases 1 to 5582)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (bases 1 to 5582)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (bases 1 to 5582)
  AUTHORS   Lagali,P.S., Kakuk,L.E., Griesinger,I.B., Wong,P.W. and Ayyagari,R.
  TITLE     Identification and characterization of C6orf37, a novel candidate
            human retinal disease gene on chromosome 6q14
  JOURNAL   Biochem Biophys Res Commun 293 (1), 356-365 (2002)
   PUBMED   12054608
  REMARK    GeneRIF: a candidate of human retinal disease on chromosome 6
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA981608.1, BC007351.2, AF350451.1 and AI131001.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017633.2.
            
            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 :: AF350451.1, SRR1660807.198369.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320172.11/ ENSP00000318298.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-544               DA981608.1         32-575
            545-1683            BC007351.2         574-1712
            1684-5319           AF350451.1         1675-5310
            5320-5582           AI131001.1         6-268               c
FEATURES             Location/Qualifiers
     source          1..5582
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..5582
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /note="terminal nucleotidyltransferase 5A"
                     /db_xref="GeneID:55603"
                     /db_xref="HGNC:HGNC:18345"
                     /db_xref="MIM:611357"
     exon            1..251
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /inference="alignment:Splign:2.1.0"
     exon            252..840
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /inference="alignment:Splign:2.1.0"
     CDS             289..1617
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /EC_number="2.7.7.19"
                     /note="retinal expressed gene C6orf37; HBV
                     XAg-transactivated protein 11; HBV X-transactivated gene
                     11 protein; protein FAM46A; putative
                     nucleotidyltransferase FAM46A; family with sequence
                     similarity 46 member A"
                     /codon_start=1
                     /product="terminal nucleotidyltransferase 5A"
                     /protein_id="NP_060103.2"
                     /db_xref="CCDS:CCDS34489.1"
                     /db_xref="GeneID:55603"
                     /db_xref="HGNC:HGNC:18345"
                     /db_xref="MIM:611357"
                     /translation="MAEGEGYFAMSEDELACSPYIPLGGDFGGGDFGGGDFGGGDFGG
                     GGSFGGHCLDYCESPTAHCNVLNWEQVQRLDGILSETIPIHGRGNFPTLELQPSLIVK
                     VVRRRLAEKRIGVRDVRLNGSAASHVLHQDSGLGYKDLDLIFCADLRGEGEFQTVKDV
                     VLDCLLDFLPEGVNKEKITPLTLKEAYVQKMVKVCNDSDRWSLISLSNNSGKNVELKF
                     VDSLRRQFEFSVDSFQIKLDSLLLFYECSENPMTETFHPTIIGESVYGDFQEAFDHLC
                     NKIIATRNPEEIRGGGLLKYCNLLVRGFRPASDEIKTLQRYMCSRFFIDFSDIGEQQR
                     KLESYLQNHFVGLEDRKYEYLMTLHGVVNESTVCLMGHERRQTLNLITMLAIRVLADQ
                     NVIPNVANVTCYYQPAPYVADANFSNYYIAQVQPVFTCQQQTYSTWLPCN"
     exon            841..5582
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5556..5561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /note="hexamer: AATAAA"
     polyA_site      5582
                     /gene="TENT5A"
                     /gene_synonym="C6orf37; FAM46A; OI18; XTP11"
                     /note="major polyA site"
ORIGIN      
        1 gcacaactgc taaagctcca gagacacgag cgtgtgtggc agcaagagcc gccagttcgg
       61 gaccaccgca gctggggtgg cagcggcgca ggaggggtcg cggggaggga gtggtgagcg
      121 caggcggcag gggtctggga aagacgaagt cgctatttgc tgtctgagcg cgctcgcagc
      181 tcctggaagt gttgccgcct ctcggtttcg ctctcgctcg ctgcgctcct agaaggggcg
      241 gccgcctcca ggactgacca gggccaagtg gcgctcggcg ggcactacat ggcggagggt
      301 gaagggtact tcgccatgtc tgaggacgag ctggcctgca gcccctacat ccccctaggc
      361 ggcgacttcg gcggcggcga cttcggcggc ggcgacttcg gcggcggcga cttcggcggt
      421 ggcggcagct tcggtgggca ttgcttggac tattgcgaaa gccctacggc gcactgcaat
      481 gtgctgaact gggagcaagt gcagcggctg gacggcatcc tgagcgagac cattccgatt
      541 cacgggcgcg gcaacttccc cacgctcgag ctgcagccga gcctgatcgt gaaggtggtg
      601 cggcggcgcc tggccgagaa gcgcattggc gtccgcgacg tgcgcctcaa cggctcggca
      661 gccagccatg tcctgcacca ggacagcggc ctgggctaca aggacctgga cctcatcttc
      721 tgcgccgacc tgcgcgggga aggggagttt cagactgtga aggacgtcgt gctggactgc
      781 ctgttggact tcttacccga gggggtgaac aaagagaaga tcacaccact cacgctcaag
      841 gaagcttatg tgcagaaaat ggttaaagtg tgcaatgact ctgaccgatg gagtcttata
      901 tccctgtcaa acaacagtgg caaaaatgtg gaactgaaat ttgtggattc cctccggagg
      961 cagtttgaat tcagtgtaga ttcttttcaa atcaaattag actctcttct gctcttttat
     1021 gaatgttcag agaacccaat gactgagaca tttcacccca caataatcgg ggagagcgtc
     1081 tatggcgatt tccaggaagc ctttgatcac ctttgtaaca agatcattgc caccaggaac
     1141 ccagaggaaa tccgaggggg aggcctgctt aagtactgca acctcttggt gaggggcttt
     1201 aggcccgcct ctgatgaaat caagaccctt caaaggtata tgtgttccag gtttttcatc
     1261 gacttctcag acattggaga gcagcagaga aaactggagt cctatttgca gaaccacttt
     1321 gtgggattgg aagaccgcaa gtatgagtat ctcatgaccc ttcatggagt ggtaaatgag
     1381 agcacagtgt gcctgatggg acatgaaaga agacagactt taaaccttat caccatgctg
     1441 gctatccggg tgttagctga ccaaaatgtc attcctaatg tggctaatgt cacttgctat
     1501 taccagccag ccccctatgt agcagatgcc aactttagca attactacat tgcacaggtt
     1561 cagccagtat tcacgtgcca gcaacagacc tactccactt ggctaccctg caattaagaa
     1621 tcatttaaaa atgtcctgtg gggaagccat ttcagacaag acaggagaga aaaaaaaaaa
     1681 aaagaaaaaa aaaagagtga tccagccctt attagggatg tgttttgtgc aatgatgata
     1741 tgctcctggt tttaagtttg gcaaagctta tgtatctttt aatagatgtg ggagcatgat
     1801 ctcgaaagga tccttttccc ttctcttatt ctcctaccca attggattct atcctgcaaa
     1861 aaaagagaga cctgtcatta gaagcaacca ggttctcctg atacaagaga agaaatgtgt
     1921 gatgacaata tgggtttgct gtatctgctc ccatagcttt gccataggaa aaaaaaaagt
     1981 ggaaagtttc ttttaagatg gaattcataa aagggaaaat acggaggaaa aaaggtctca
     2041 ctccaacttg tgaatcagtt taggagttca gatattaata gtaacaatac aggaaaaagg
     2101 ggaactccaa cgttgggatt actgtctgag gcttgtagca agtgctttct gtggaatgat
     2161 cttgttttgc taacaaacgg cttgctccaa atgaacagta gtaggttggt gcagttctcg
     2221 taacaatcag cagaacttat gatgacacaa tccattaatt ccagctgcgt gcatagatca
     2281 catttttaaa atgtaaaaat gcaagcaaaa acagctgtaa caaagaaagt gtgctcaagg
     2341 accaaagatt taacagataa aaatacccaa ttagaagaga tatagtagac tatatgaaga
     2401 gagattatat ttgttacaca ccaatataca tcaaagtgcc tgttgccttc tgaaaatttg
     2461 aagtggcaaa attattttat ggtttaatga ttattttatt ttatcaggga ctgcctcaag
     2521 aagaaaataa cataagcttg tgaatggtgg agaaaatgcc ctattttttc ttgcaaatac
     2581 ttgtataaag ttaacatttg ttgatctgat attatcatag gtacatgtgt atgtgtgtat
     2641 aaattatatg tgtgtgtgta tatatacatt ttatatatac attttatatg tatatataca
     2701 cagtagattg actatgatct agaataatgt ctcaaatagg aaatgtttaa atactgtgtg
     2761 tttttatgtt ttcaacagga taacatgaga cgtgggcata ttgcaatgat gaattaaatc
     2821 cacatctaaa aaaattaaat gaaggaggga accaagtaat atatttcata ggaagagcag
     2881 aaattatact gttttagtgg gatttttttt tctttttttt tttttctttg gtgagccata
     2941 aaattccaca aatgggagaa tatttgtttg gcagagcact cttttttata ttgaactgcc
     3001 attttgacag ttggaaccca tttattaaaa aaaaaattgc attcctctat gatgtttaat
     3061 ctagtggatc atggatcagt aataggctac ttaaatccct gactgctaaa aaggatttcc
     3121 ggtgatctaa acactacttg ctaatgttta aatgaatttt aatgaatgca ttctgcattt
     3181 ctggaccact agaatttagt aatgtgaaat gacccttttt acagaatatt tgcacaattg
     3241 cttaaaattt atatatgaga tatatattat atataacatt ttataaatca tgtcaatatg
     3301 aaacatcttt gatctggttg tcacactgca tttaaatatt tagtactgta ctttaaatcg
     3361 ctttccatta aatcaaatcc aactttattt tctttcttac aaaaatacca gttatacctt
     3421 tgtgaaatga actggcatta ctatttcagt tcaataacag ctaatcctaa aaccaccctt
     3481 tctcctagcc agtagttcct ctagatactg gtctctgaaa atgcatttgt taaaaacaaa
     3541 acaaaactaa cacataagaa ccttcccttt gtgttgtgaa acaaccacat aatctccaca
     3601 accttagtgg atgactgctt gctatgataa ttcctcgaag acccaattag aagattttca
     3661 tcatcagtta aagagagacc acgggagaaa aaaatatcct cctgttggca gtataatttg
     3721 tttgtttgtt tatctaggga tcctcagatg cttagtgcta ggttaatcca ggttaatccg
     3781 tctggactac cttttgtgca tctttctttg aagccttaat gggaacctga tgggtttgct
     3841 gtagcagctt ccttgtgaat tctgtcagag ctgcaacagc cgctgcactg ccactcagtt
     3901 ttctaaggaa ctcctcctac taccatcttg gctcagtctc cctcacttaa gccctgggtt
     3961 tgaaaaatta attgcaactt cccaggaaac attgttcagt ttgcagatta agcctggcac
     4021 tcacctatca gaaaccagag ctccgcctgc ttagttgttt caaagttttc tgaaagaaaa
     4081 ctaggggagc acttgtgaac acaggagcag ctggtgatct gctttcttac cctaactctt
     4141 gacaaatgag tcgtctacta ttttaaagag tctggaggtc tctgactctg ccataacaat
     4201 aacctgctgt taatttataa cacagatttt tgtttggaag agccttattt gaaatacact
     4261 ttgatttatt ttcttaaata tttatattct tttcttgctt acttcagggt tggtagctta
     4321 gttggaagtg ccagcacctg gcacctattc atatagaaca ggctgtactc aagacaactt
     4381 ctagcattta ctttaagact tatataattt atttctattt tgtgtgtact atagtcttgt
     4441 gcatatgtag ttgaacacac agtgaaatat atgtctctct ttgtggatgt gcggcctaaa
     4501 aatttgaatg tctggtgaga gagagccatg tgtataggtc agagaaaaga acagctcccg
     4561 actccctatt agcgcctgtg atttgtttcc ttttgtgttt atctggccta gtgtgctgtt
     4621 tctttaaacc aggaagaagt tttgtctttt ggaggctctt ctcacctgtc cagcctggca
     4681 tgtcagagaa cacatagcct gtgacaatgc cgtttttaaa ggtttactta atttgcagta
     4741 aatccagctg cctcaagaac tcctacacca agatggacat ttcctttcca gaaatgggat
     4801 caagtatctg ctcactttgg tattggatgg actaataatg tagctccaaa aatgcaagga
     4861 tggaagaata tgtgtaatcc aaaccaagga aggaaatgaa aagtgaacgt actgttttta
     4921 ccaccccttt ctgtttgctt attgttggtt gcttcactgt gcataaagtt gttttcaatg
     4981 caacgcttgt taaataaata ttgtgaacta ttttgtaaat gaaatgtatt atgttgaaag
     5041 ctgtcagttc aaaaataagc ttttttgttg ttgttgaaga tgaagtgtgt taggtgaaac
     5101 caaaaagcca aaaaaagtaa tttcatatat agcatctatt tgaatataat ctttctttaa
     5161 aatttctttt agcatagcat tttcagtgct aagaaagaat ctctatgtta tattttgtta
     5221 aaataatggc tttctaacaa agcaaatggt aaagtacaaa gttggaagat gtcaagttaa
     5281 cgagacttgc tgcaaagcct tgcagaacgg aggaggctct gcctgctggc tgtctctccc
     5341 tccaacctct ctacaatcat gcctgctttg aggtgttctg ttgcagcaag ctgcaccttg
     5401 ggtcactctt ttggaatatt ttgactatag gctgcgtcac aggcagaaaa ggagttgatg
     5461 gaaaatggac taaaaaactg acatgtttga atcagtgcta gagggaacag attgtgaatt
     5521 ttgtttacag catccaatat ttggattttt ttgtaaataa aaaagttatt tttttctatt
     5581 ga
//
