LOCUS       NM_017736               4357 bp    mRNA    linear   PRI 22-JAN-2025
DEFINITION  Homo sapiens THUMP domain 1 NAT10 acetyltransferase adaptor
            (THUMPD1), transcript variant 1, mRNA.
ACCESSION   NM_017736
VERSION     NM_017736.5
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 4357)
  AUTHORS   Gamage,S.T., Khoogar,R., Manage,S.H., Crawford,M.C., Georgeson,J.,
            Polevoda,B.V., Sanders,C., Lee,K.A., Nance,K.D., Iyer,V.,
            Kustanovich,A., Perez,M., Thu,C.T., Nance,S.R., Amin,R.,
            Miller,C.N., Holewinski,R.J., Meyer,T., Koparde,V., Yang,A.,
            Jailwala,P., Nguyen,J.T., Andresson,T., Hunter,K., Gu,S.,
            Mock,B.A., Edmondson,E.F., Difilippantonio,S., Chari,R.,
            Schwartz,S., O'Connell,M.R., Chih-Chien Wu,C. and Meier,J.L.
  TITLE     Transfer RNA acetylation regulates in vivo mammalian stress
            signaling
  JOURNAL   bioRxiv (2024)
   PUBMED   39091849
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4357)
  AUTHORS   Broly,M., Polevoda,B.V., Awayda,K.M., Tong,N., Lentini,J.,
            Besnard,T., Deb,W., O'Rourke,D., Baptista,J., Ellard,S.,
            Almannai,M., Hashem,M., Abdulwahab,F., Shamseldin,H., Al-Tala,S.,
            Alkuraya,F.S., Leon,A., van Loon,R.L.E., Ferlini,A., Sanchini,M.,
            Bigoni,S., Ciorba,A., van Bokhoven,H., Iqbal,Z., Al-Maawali,A.,
            Al-Murshedi,F., Ganesh,A., Al-Mamari,W., Lim,S.C., Pais,L.S.,
            Brown,N., Riazuddin,S., Bezieau,S., Fu,D., Isidor,B., Cogne,B. and
            O'Connell,M.R.
  TITLE     THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a
            syndromic neurodevelopmental disorder
  JOURNAL   Am J Hum Genet 109 (4), 587-600 (2022)
   PUBMED   35196516
  REMARK    GeneRIF: THUMPD1 bi-allelic variants cause loss of tRNA acetylation
            and a syndromic neurodevelopmental disorder.
REFERENCE   3  (bases 1 to 4357)
  AUTHORS   Li,K., Liu,J., Yang,X., Tu,Z., Huang,K. and Zhu,X.
  TITLE     Pan-cancer analysis of N4-acetylcytidine adaptor THUMPD1 as a
            predictor for prognosis and immunotherapy
  JOURNAL   Biosci Rep 41 (12) (2021)
   PUBMED   34762107
  REMARK    GeneRIF: Pan-cancer analysis of N4-acetylcytidine adaptor THUMPD1
            as a predictor for prognosis and immunotherapy.
REFERENCE   4  (bases 1 to 4357)
  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   5  (bases 1 to 4357)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 4357)
  AUTHORS   Zhang,X., Jiang,G., Sun,M., Zhou,H., Miao,Y., Liang,M., Wang,E. and
            Zhang,Y.
  TITLE     Cytosolic THUMPD1 promotes breast cancer cells invasion and
            metastasis via the AKT-GSK3-Snail pathway
  JOURNAL   Oncotarget 8 (8), 13357-13366 (2017)
   PUBMED   28076326
  REMARK    GeneRIF: These results indicate that THUMPD1 promotes breast cancer
            cells invasion and migration via the AKT-GSK3beta-Snail pathway
REFERENCE   7  (bases 1 to 4357)
  AUTHORS   Sharma,S., Langhendries,J.L., Watzinger,P., Kotter,P., Entian,K.D.
            and Lafontaine,D.L.
  TITLE     Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine
            acetyltransferases that modify tRNAs assisted by the adaptor
            Tan1/THUMPD1
  JOURNAL   Nucleic Acids Res 43 (4), 2242-2258 (2015)
   PUBMED   25653167
REFERENCE   8  (bases 1 to 4357)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   9  (bases 1 to 4357)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004381.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017736.4.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000281.1, SRR1660809.133661.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396083.7/ ENSP00000379392.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-310               AC004381.1         97864-98173         c
            311-485             AC004381.1         95252-95426         c
            486-734             AC004381.1         94063-94311         c
            735-4357            AC004381.1         90019-93641         c
FEATURES             Location/Qualifiers
     source          1..4357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..4357
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /note="THUMP domain 1 NAT10 acetyltransferase adaptor"
                     /db_xref="GeneID:55623"
                     /db_xref="HGNC:HGNC:23807"
                     /db_xref="MIM:616662"
     exon            1..310
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1141
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /note="THUMP domain containing 1"
                     /codon_start=1
                     /product="THUMP domain-containing protein 1"
                     /protein_id="NP_060206.2"
                     /db_xref="CCDS:CCDS10588.1"
                     /db_xref="GeneID:55623"
                     /db_xref="HGNC:HGNC:23807"
                     /db_xref="MIM:616662"
                     /translation="MAAPAQQTTQPGGGKRKGKAQYVLAKRARRCDAGGPRQLEPGLQ
                     GILITCNMNERKCVEEAYSLLNEYGDDMYGPEKFTDKDQQPSGSEGEDDDAEAALKKE
                     VGDIKASTEMRLRRFQSVESGANNVVFIRTLGIEPEKLVHHILQDMYKTKKKKTRVIL
                     RMLPISGTCKAFLEDMKKYAETFLEPWFKAPNKGTFQIVYKSRNNSHVNREEVIRELA
                     GIVCTLNSENKVDLTNPQYTVVVEIIKAVCCLSVVKDYMLFRKYNLQEVVKSPKDPSQ
                     LNSKQGNGKEAKLESADKSDQNNTAEGKNNQQVPENTEELGQTKPTSNPQVVNEGGAK
                     PELASQATEGSKSNENDFS"
     exon            311..485
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /inference="alignment:Splign:2.1.0"
     exon            486..734
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /inference="alignment:Splign:2.1.0"
     exon            735..4357
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4337..4342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /note="hexamer: AATAAA"
     polyA_site      4357
                     /gene="THUMPD1"
                     /gene_synonym="NEDSOA; Tan1"
                     /note="major polyA site"
ORIGIN      
        1 accagttcgc gccggcgata gacgaggacg ccaacagcag cggagaaacg tttctctttc
       61 ctctcagttt gcgcacacca tggcggcccc tgcccagcag actactcagc ctggcggcgg
      121 gaagcgcaaa ggcaaggctc agtatgtgct ggccaagcgc gctcggcgct gcgacgctgg
      181 cgggccccgt cagctagagc ccgggctaca gggcatcctc atcacctgca atatgaacga
      241 gcgcaagtgc gtggaggagg cctacagcct cctcaacgaa tacggcgacg acatgtatgg
      301 gccagaaaag tttacagaca aggatcagca gccctctgga agtgagggag aggatgatga
      361 tgcggaggct gccttgaaga aagaagttgg tgacattaag gcatctacag agatgaggtt
      421 aagaagattc cagtcagtgg aaagtggagc aaataacgtt gtcttcatca ggacacttgg
      481 gatagagcct gagaaattgg tgcatcatat tctccaggat atgtacaaaa ccaagaaaaa
      541 gaagactcga gttattttgc gaatgttacc catctcaggc acatgcaagg cttttttaga
      601 agatatgaaa aaatatgcag aaacattttt ggaaccctgg tttaaagctc caaacaaagg
      661 gacatttcag attgtgtaca aatctcgaaa taacagtcat gtgaatagag aagaagttat
      721 cagagaattg gcaggaatag tgtgcaccct caattcagaa aataaagtgg atctcaccaa
      781 tccacagtac acagtggtag tagaaatcat caaagctgtc tgttgcctga gtgttgtgaa
      841 agattacatg ttgtttagaa aatacaatct ccaggaggtg gtgaagagcc ctaaggatcc
      901 gtcacagctt aactcaaagc agggaaatgg gaaagaagct aaactggaat ctgcggacaa
      961 atcagaccaa aacaacacag cagaaggaaa aaataaccag caggtaccag agaatactga
     1021 ggagctgggg cagacaaaac caacgtctaa tccacaggtg gtaaatgagg gaggagccaa
     1081 acctgaactt gcaagtcaag ccacagaagg atccaagtca aatgaaaatg acttctcata
     1141 ggaagtcatt tggtgttgga ggtgggtttc tcacctgggg ctctacgaga tgttgctggg
     1201 gctccacctt aaattgtgac taaaaacagt tttttatttg tgtgctgcat tatgctgttc
     1261 tcacagtagt gagcaatgat tgcgcagccc tgttaacagt ttttttaggg atctttcagc
     1321 ctttatggta ttacgtagag gcagacccat gtgctgctgt tgcaaagagg ggaggatagg
     1381 agggggatgt tggcctctcc caggctcctc ttctgcagtg ccagctgact taagggagtg
     1441 aactacctgt gaagtagaaa atcagaggga agttttcatt ctaaggaagg agtttttaca
     1501 tgccacagct cagctgtctg cctgccactt tgttgtaaac attgcaaaaa tgtggatcat
     1561 gtaggttaga agtgaattgt ttagtgaagt ttttgtactt ttgtgatttt cttgtttatg
     1621 tctgtttttt tttttttttt ttaacatttg tgtgtaatat agctgacagt ccagtgtcgc
     1681 aattttggaa ggcaagatgt gagagagacg agaaccattt taggcataga actacagaca
     1741 tttctgaaaa ggttggtgat gaagaacttc agtcttctga gtatacttca gtatactagt
     1801 gcaacaaggg acacaaagaa attctgtctt aataaagaaa gctacttctc aagggtatta
     1861 tgtggactca gtccaagctc tcctgtccca ttgtgcattg tctgtgacat gcaacttaca
     1921 aaactagcaa ttgtaacaat aaatcacagc cacttgacaa gaaaggatat tcattatttt
     1981 caaatggctt ttggactatc aaaaacagta aggcttttgt tcagaaatca cctttagtca
     2041 aaaggtttaa gaagcaaatt atttagtagc agaacttatc tcaggaaagg aaaatatgca
     2101 tggttggtga gaatctaata acattaaaat gctggggcaa gatgcagtac aaagttgaag
     2161 agactttatt ctcaataagt tgatttactg atgatatgtc atatgatgca aaaaaggttt
     2221 tgtgtcatta actgaaaagt agcagcttct ctatccagga tgatgagtca acaggtttca
     2281 ctaatatttg tcatgctgta gcatttgtaa gatttgtaaa tgatgaaatt caaagaaaac
     2341 tttttctatt gctaggagcc tgccagaaca aaggccaata tataatgttg tgacatcata
     2401 tctgataacc agaggtctgg tatctacact cctggtgccc catcagtggt tgtctccata
     2461 agtcattttg cgttattaaa aaaaaaaaaa gaaatcctga tgttgacatt atagcacact
     2521 gctttctcca cagagatgct gatatcaaaa acttgaagat acagtgaagt tctgaataat
     2581 gttacaaaac tggttacctg tatcaaagac ccatttatgc aaaaatgtta aaaaaaaaaa
     2641 aaaacaccca aaacaaaaac ctggacagac agcacataaa cctcctgcac catacagaca
     2701 tccagtggct tctcagagga agcgttctct acaggatatt tgaattgaaa ggtgaattgc
     2761 cagagtactt acaataaaac agccagcttt tgctgagtgc tttggaaatg aaaaatgact
     2821 acagaaagta gcctattttg cagacgtttt tcatcacatg aacaaatgga caagtctctg
     2881 aaaggttctg gggaaaaaaa tttttcttaa agcgacaaga ctcttagatc taaaaggaaa
     2941 ctgacttgcc accttgccag aggaattctt gaaatgtttc tgcagccact tggccttgaa
     3001 aataaagggt gcaactctca aatcttgttc taacccggct ggaggaacca caagacccaa
     3061 tgaaatagca ttttctctcc ttttcccagc actagtatat aacctatgag gaacccttgt
     3121 ctctgaatct gctcagcttg aaattttgtc tctgaaggaa gagaatgaac tcagccctag
     3181 tctgacagtc ctagatttct gtgaaataag agtattcttc aacttagtgc tcacactcac
     3241 ataccatgag ggttctctgc aggggtttag gggtttcctg aatttgaaag ttttttcaag
     3301 gcctcttttt gggtaaaaca attgaaaagg cagacaccaa caaagtctgc aaaattaact
     3361 gtccagatta agaatattaa ggagctgtaa aattagcttg tagaaatgga cttatcctta
     3421 agttttaaaa agttaggaaa tcctaaaaat gttaggcttc ctgcacaagt ggctatgttc
     3481 atttaatggc tagtgaacat gggaatgtat ttttatcctc ctagctggtg gttctgtttg
     3541 gtaaaccaga ctagaatgat ttgagagggg caaagagaat aggcaggacc ttccttctat
     3601 agctttacat atttagaatg ttaatactta atgacattga agttaccttg caatgattga
     3661 taagaggatt attaatatca gttaggggaa tagggaggat aggattttgg tgccttcttc
     3721 agcagacttg ctccaagaca aagattctat tttgatagtg caagacaaaa ggactcggaa
     3781 gaaaattggc catatgccta cagagcatac aactctgtgg aactaaattg tttttacttt
     3841 gtgaaagctg ctattttacg gaaagatttt gattatacag tttgttttta aattgtcttt
     3901 tatatttatt tgtatttggt aagaatcggt tgttacacaa gctgttcttt cccagttaca
     3961 aaatcctgtg ttcggttgta acctgaactc attaaaagac ttgttttcag gtttatcaac
     4021 tgtttatttt cactgacatt tgagcatgtt attttataaa tgacgggatt ccagggtagg
     4081 aagtgctttt tattcccctt ttgttttttc ttttaaaaaa ttacgtcagt taaaaaaata
     4141 aaaaaactgc agtcttatgg tttagaaaac ttgtttagct ccatagagga aagaatgtta
     4201 aactttgtat tttaaaacat gattctctga ggttaaactt ggttttcaaa tgttattttt
     4261 acttgtattt tgcttttggt acggccagaa atcgagcttg ttttttcata gttcctgata
     4321 ttttcagaaa aatcaaaata aatttgttcc ctaaaaa
//
