LOCUS       NM_001382309            3951 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ataxin 7 like 3 (ATXN7L3), transcript variant 2, mRNA.
ACCESSION   NM_001382309
VERSION     NM_001382309.1
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 3951)
  AUTHORS   Passet,M., Kim,R., Gachet,S., Sigaux,F., Chaumeil,J., Galland,A.,
            Sexton,T., Quentin,S., Hernandez,L., Larcher,L., Bergugnat,H.,
            Ye,T., Karasu,N., Caye,A., Heizmann,B., Duluc,I., Chevallier,P.,
            Rousselot,P., Huguet,F., Leguay,T., Hunault,M., Pflumio,F.,
            Freund,J.N., Lobry,C., Lheritier,V., Dombret,H., Domon-Dell,C.,
            Soulier,J., Boissel,N. and Clappier,E.
  TITLE     Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a
            novel high-risk subtype of B-cell ALL
  JOURNAL   Blood 139 (24), 3505-3518 (2022)
   PUBMED   35316324
  REMARK    GeneRIF: Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion
            define a novel high-risk subtype of B-cell ALL.
REFERENCE   2  (bases 1 to 3951)
  AUTHORS   Kimura,S., Montefiori,L., Iacobucci,I., Zhao,Y., Gao,Q.,
            Paietta,E.M., Haferlach,C., Laird,A.D., Mead,P.E., Gu,Z., Stock,W.,
            Litzow,M., Rowe,J.M., Luger,S.M., Hunger,S.P., Ryland,G.L.,
            Schmidt,B., Ekert,P.G., Oshlack,A., Grimmond,S.M., Rehn,J.,
            Breen,J., Yeung,D., White,D.L., Aldoss,I., Jabbour,E.J., Pui,C.H.,
            Meggendorfer,M., Walter,W., Kern,W., Haferlach,T., Brady,S.,
            Zhang,J., Roberts,K.G., Blombery,P. and Mullighan,C.G.
  TITLE     Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of
            high-risk B-progenitor acute lymphoblastic leukemia
  JOURNAL   Blood 139 (24), 3519-3531 (2022)
   PUBMED   35192684
  REMARK    GeneRIF: Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a
            subtype of high-risk B-progenitor acute lymphoblastic leukemia.
REFERENCE   3  (bases 1 to 3951)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 3951)
  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 3951)
  AUTHORS   Sun,N., Zhong,X., Wang,S., Zeng,K., Sun,H., Sun,G., Zou,R., Liu,W.,
            Liu,W., Lin,L., Song,H., Lv,C., Wang,C. and Zhao,Y.
  TITLE     ATXN7L3 positively regulates SMAD7 transcription in hepatocellular
            carcinoma with growth inhibitory function
  JOURNAL   EBioMedicine 62, 103108 (2020)
   PUBMED   33186807
  REMARK    GeneRIF: ATXN7L3 positively regulates SMAD7 transcription in
            hepatocellular carcinoma with growth inhibitory function.
REFERENCE   6  (bases 1 to 3951)
  AUTHORS   Helmlinger,D., Hardy,S., Sasorith,S., Klein,F., Robert,F.,
            Weber,C., Miguet,L., Potier,N., Van-Dorsselaer,A., Wurtz,J.M.,
            Mandel,J.L., Tora,L. and Devys,D.
  TITLE     Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing
            complexes
  JOURNAL   Hum Mol Genet 13 (12), 1257-1265 (2004)
   PUBMED   15115762
REFERENCE   7  (bases 1 to 3951)
  AUTHORS   Martinez,E., Palhan,V.B., Tjernberg,A., Lymar,E.S., Gamper,A.M.,
            Kundu,T.K., Chait,B.T. and Roeder,R.G.
  TITLE     Human STAGA complex is a chromatin-acetylating transcription
            coactivator that interacts with pre-mRNA splicing and DNA
            damage-binding factors in vivo
  JOURNAL   Mol Cell Biol 21 (20), 6782-6795 (2001)
   PUBMED   11564863
REFERENCE   8  (bases 1 to 3951)
  AUTHORS   Brand,M., Moggs,J.G., Oulad-Abdelghani,M., Lejeune,F.,
            Dilworth,F.J., Stevenin,J., Almouzni,G. and Tora,L.
  TITLE     UV-damaged DNA-binding protein in the TFTC complex links DNA damage
            recognition to nucleosome acetylation
  JOURNAL   EMBO J 20 (12), 3187-3196 (2001)
   PUBMED   11406595
REFERENCE   9  (bases 1 to 3951)
  AUTHORS   Brand,M., Yamamoto,K., Staub,A. and Tora,L.
  TITLE     Identification of TATA-binding protein-free TAFII-containing
            complex subunits suggests a role in nucleosome acetylation and
            signal transduction
  JOURNAL   J Biol Chem 274 (26), 18285-18289 (1999)
   PUBMED   10373431
REFERENCE   10 (bases 1 to 3951)
  AUTHORS   Wieczorek,E., Brand,M., Jacq,X. and Tora,L.
  TITLE     Function of TAF(II)-containing complex without TBP in transcription
            by RNA polymerase II
  JOURNAL   Nature 393 (6681), 187-191 (1998)
   PUBMED   9603525
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004596.2.
            
            Transcript Variant: This variant (2), as well as variants 4, 5, and
            6, encodes isoform b.
            
            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 :: SRR14038197.78456.1,
                                           SRR12921934.1101016.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000587097.6/ ENSP00000465614.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-389               AC004596.2         21942-22330
            390-500             AC004596.2         23696-23806
            501-633             AC004596.2         24096-24228
            634-805             AC004596.2         24427-24598
            806-903             AC004596.2         24800-24897
            904-926             AC004596.2         25408-25430
            927-972             AC004596.2         25747-25792
            973-1001            AC004596.2         25998-26026
            1002-1070           AC004596.2         26339-26407
            1071-1114           AC004596.2         26686-26729
            1115-1186           AC004596.2         26987-27058
            1187-1344           AC004596.2         27152-27309
            1345-3951           AC004596.2         27415-30021
FEATURES             Location/Qualifiers
     source          1..3951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..3951
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /note="ataxin 7 like 3"
                     /db_xref="GeneID:56970"
                     /db_xref="HGNC:HGNC:25416"
                     /db_xref="MIM:619010"
     exon            1..389
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            390..500
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     CDS             450..1493
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="ataxin-7-like protein 3 isoform b"
                     /protein_id="NP_001369238.1"
                     /db_xref="CCDS:CCDS42345.1"
                     /db_xref="GeneID:56970"
                     /db_xref="HGNC:HGNC:25416"
                     /db_xref="MIM:619010"
                     /translation="MKMEEMSLSGLDNSKLEAIAQEIYADLVEDSCLGFCFEVHRAVK
                     CGYFFLDDTDPDSMKDFEIVDQPGLDIFGQVFNQWKSKECVCPNCSRSIAASRFAPHL
                     EKCLGMGRNSSRIANRRIANSNNMNKSESDQEDNDDINDNDWSYGSEKKAKKRKSDKN
                     PNSPRRSKSLKHKNGELSNSDPFKYNNSTGISYETLGPEELRSLLTTQCGVISEHTKK
                     MCTRSLRCPQHTDEQRRTVRIYFLGPSAVLPEVESSLDNDSFDMTDSQALISRLQWDG
                     SSDLSPSDSGSSKTSENQGWGLGTNSSESRKTKKKKSHLSLVGTASGLGSNKKKKPKP
                     PAPPTPSIYDDIN"
     exon            501..633
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            634..805
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            806..903
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            904..926
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            927..972
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1001
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1070
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1114
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1186
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1344
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..3951
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3928..3933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /note="hexamer: AATAAA"
     polyA_site      3951
                     /gene="ATXN7L3"
                     /gene_synonym="SGF11"
                     /note="major polyA site"
ORIGIN      
        1 gttcacgctc gctccatcca tccatcctcc ggtcgcggca cacgcgcgcg cgctccgggc
       61 tcgcgccgca ccccccgccc gggagaggcg ggctggagtg gggggcgggg ggaggggcgc
      121 gcggacggcg cgcggactgc gcgcgggcgg ggtgaggtga ggaggaggag gcggcgacgg
      181 gacaagaagg gaggggaagg ggccatggcc gcccggtgag gcggccaggc gggggggcgg
      241 cccgaccccc cggccccggg ccctgggccc cggggagagg cgaggacgga ccgacggaca
      301 tggggctccg gagcagccgc cgccgtcgcc gccgccggag gacgcggccc tgagaggctg
      361 ccgggccccg gcgcggcccc ccgggcgggc cgtgttgccg cccgctgtgc tatgagcagt
      421 cagagcgccg tctccacaag agtttacaaa tgaaaatgga ggaaatgtct ttgtctggcc
      481 tggataacag caaactagag gccatcgctc aggagatata cgcggacctg gtcgaggatt
      541 cttgtttggg attctgcttt gaggtacacc gggctgtcaa gtgtggctac ttcttcttgg
      601 acgacacgga ccctgatagc atgaaggatt ttgagatcgt ggaccagccg ggcttggaca
      661 tctttggaca ggttttcaac cagtggaaga gcaaggagtg tgtttgcccc aattgcagtc
      721 gcagcattgc cgcctcccgc tttgctcccc atctggagaa gtgcctggga atgggtcgga
      781 acagcagccg aatcgccaac cgccggattg ccaatagcaa caatatgaat aagtctgaga
      841 gtgaccaaga agataatgat gacatcaatg acaacgactg gtcctatggc tcggagaaga
      901 aagccaagaa gagaaagtca gacaagaacc ccaattcccc tcgaagatcc aagtcattaa
      961 aacacaaaaa tggggaactt agcaattcgg atccttttaa gtataacaat tcaactggga
     1021 tcagctatga gaccctgggg ccggaggagc ttcgcagcct gctaaccacg caatgtgggg
     1081 tgatttctga acacaccaag aagatgtgca caaggtccct gcgctgccca cagcacacag
     1141 atgagcagag gcgaaccgta cggatttatt ttctcgggcc ctcggctgtc cttccagagg
     1201 tcgagagctc cctggataat gacagctttg acatgactga cagccaggcc ctgatcagcc
     1261 ggcttcagtg ggacggctcc tctgacctct caccctctga ttcaggctcc tccaagacga
     1321 gtgaaaatca gggatggggt ctaggtacca acagctctga gtcacggaaa accaagaaaa
     1381 agaaatccca tctgagcctg gtagggactg cctccggcct aggttccaac aagaagaaga
     1441 agccaaagcc accggcaccc ccgacgccca gcatctatga tgacatcaac tgacttgggt
     1501 gcaagggata gcctttggct gagcagagcc ctctctcctg acccccaccc aggtggcata
     1561 gcctggcaaa tggacggctg ctgggggttg gggcttggga agcttggtgg gccaggcagg
     1621 cagaggatcc gattatgcgc ccctgggggg tgtcaaagtc ctctgcaatg gagcacgact
     1681 cctcggcgtg caggactcag acctggacat attatgcctt ggacataagt ttggtgggga
     1741 ggcggttttc ctatttattc tgtgagttac tggatgtcca gctaggccag gggcctgacc
     1801 tgggcactgt gccagggcac tgcctgcccc ccaccccagg aactggacta agccctgctg
     1861 aggggcaatg tggcgacccg ggaggctgtg ggttggaagc tgagcctgga gggggcctgc
     1921 ctcggccgcc ctcagcaatg tgaatgggtc cggtgcttgg agctgagggg caaggctggg
     1981 catgtcctgt ctgtgtgcag aatcttatca aatgccccca gtcccagggg taggcaggca
     2041 cagagtgctg tctgctgagg tgggcgtcca gaactgccgc caccttccct gcccctcaca
     2101 ggggcagccc tttcccctca gtccccatgg gcctccttgg cagcaggagc tgtccttttg
     2161 ttgggtgcca ggaaagggcc tccagcctct acagcttcaa ggaatgggaa agggagggta
     2221 ggaagaggga gaagtgtcag aattcctccc cctgcctctc ctccctgacc cagggctggt
     2281 gaggagtggg gccccaaggt gagagggaac ggtgctgctt tatttgaaat gttttcttac
     2341 ctcattccct gccccaggaa gggacccagc ctcaccctcc tggggtggcc ccgtgttcct
     2401 cctgcccacc ctgccccact gccctaccgg ggcagcccag gttcccaact gctgcttcca
     2461 cccccttcac cttgactggc ttcagttcct ctcagcgctc ctgcctccaa agcgtgccct
     2521 gtttcccttc cttagcgctt ttaagttatt tattctgtac ttgtggtttg gggctctgag
     2581 gaaaatccta atcttgtgcc tctccccctt tgctaggagt tgggtgggaa gagagggtgg
     2641 cctctgtgcc ccaggttgtc agtggagggg aaggggtgtc actgcccctc tgtgggactg
     2701 tcatgccagt gtgcccacct gcctggtcta catcctaaag agatgtaccg tcccccctcc
     2761 atgcgggcac caccactccc aggagccaag ctggaggacc gcgacctggg ctgggagcag
     2821 agctgactga catgggtgga ggtgaccctg agccaagttc tctggcactt gctggacatg
     2881 tcccctaccc tcttcccaag aggagccatc ccacatttgg gtagttagta cccaggactg
     2941 gttggactga tcgggttagg gaccctagag ggttaaggga acaacagaga tggggctgca
     3001 atgccctgtc tggaactccg ctctcccgct ggggtggttc tgattgtggc tcatgcctgg
     3061 ttgcaaattg gtttttaacc cacaaattgt gattattttt taaaaagcca aacagatttt
     3121 ggcaggagtt agaataaatc ccggggcctg ggcttctcta ttcttggccc tccgtagtct
     3181 ccctccgaga ggaggccaga gggagaggag gatctcagca ggcctctagc cgcttccaga
     3241 tgcagtctgg ggagtgggct gaaggtgaag ggaggaaggc tgtgggccac tctcccttct
     3301 gagaggcagc tgcagctcag gccctaatac actctttgcc ctgtggcctc tcccttttcc
     3361 ccccttctgg ttggaggagg gagaagtggg aagtagcttg ggaactggtt tgtccacata
     3421 aacttcccca ttgttccttg gcccgccctc agggcagagc cccctgccca ggctgggtaa
     3481 gagatgggct tggtccagca gggaccctga gggaacaaac ccttttcctt ctggggagag
     3541 agtgcccccc ctaccatgta gttgaacagg ggctaggagc tccccactcc cctccctcta
     3601 acagcaggct gtgtgggttt caattcccat ccttcccacc ccggctaggt gtcgtccacc
     3661 ctgtatcctg tgtctgagtg tgtgtggggg ggttctgtac taatttccat ggccggtggc
     3721 ttttccttcc atgcatcact cccccccgca tgcccagggg ccacccgcct ggcattaccg
     3781 catgctgggg tcattggggg aggggggtgg ggctcacgct gtcctgtggt cttgagattt
     3841 ttatttttgc atatgtaatc cattctgtac aggtagctaa ctttgtaaac gctgtgtatt
     3901 ccctctgccc ccatggctgc tggtgtaaat aaactgcatc tcccgttggt a
//
