LOCUS       NM_001135995            1407 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens ataxin 3 like (ATXN3L), transcript variant 1, mRNA.
ACCESSION   NM_001135995 NR_003585 XM_045705 XM_942555
VERSION     NM_001135995.2
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 1407)
  AUTHORS   Vlasschaert,C., Cook,D., Xia,X. and Gray,D.A.
  TITLE     The evolution and functional diversification of the
            deubiquitinating enzyme superfamily
  JOURNAL   Genome Biol Evol 9 (3), 558-573 (2017)
   PUBMED   28177072
REFERENCE   2  (bases 1 to 1407)
  AUTHORS   Ge,F., Chen,W., Qin,J., Zhou,Z., Liu,R., Liu,L., Tan,J., Zou,T.,
            Li,H., Ren,G. and Chen,C.
  TITLE     Ataxin-3 like (ATXN3L), a member of the Josephin family of
            deubiquitinating enzymes, promotes breast cancer proliferation by
            deubiquitinating Kruppel-like factor 5 (KLF5)
  JOURNAL   Oncotarget 6 (25), 21369-21378 (2015)
   PUBMED   26079537
  REMARK    GeneRIF: ATXN3L has a role in the regulation of KLF5 stability in
            breast cancer
REFERENCE   3  (bases 1 to 1407)
  AUTHORS   Weeks,S.D., Grasty,K.C., Hernandez-Cuebas,L. and Loll,P.J.
  TITLE     Crystal structure of a Josephin-ubiquitin complex: evolutionary
            restraints on ataxin-3 deubiquitinating activity
  JOURNAL   J Biol Chem 286 (6), 4555-4565 (2011)
   PUBMED   21118805
REFERENCE   4  (bases 1 to 1407)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   5  (bases 1 to 1407)
  AUTHORS   Ichikawa,Y., Goto,J., Hattori,M., Toyoda,A., Ishii,K., Jeong,S.Y.,
            Hashida,H., Masuda,N., Ogata,K., Kasai,F., Hirai,M., Maciel,P.,
            Rouleau,G.A., Sakaki,Y. and Kanazawa,I.
  TITLE     The genomic structure and expression of MJD, the Machado-Joseph
            disease gene
  JOURNAL   J Hum Genet 46 (7), 413-422 (2001)
   PUBMED   11450850
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004674.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 21, 2020 this sequence version replaced NM_001135995.1.
            
            Summary: This intronless gene may be a pseudogene (PMID:11450850).
            This gene is similar to the multi-exon gene which encodes ataxin 3
            and contains a coding region which could encode a protein similar
            to ataxin 3. Mutations in the gene encoding ataxin 3 are associated
            with Machado-Joseph disease. [provided by RefSeq, Sep 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AB050195.1, BC137187.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380622.5/ ENSP00000369996.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1407              AC004674.1         52123-53529
FEATURES             Location/Qualifiers
     source          1..1407
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1407
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /note="ataxin 3 like"
                     /db_xref="GeneID:92552"
                     /db_xref="HGNC:HGNC:24173"
                     /db_xref="MIM:300920"
     exon            1..1407
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..1187
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /EC_number="3.4.19.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative ataxin-3-like protein; machado-Joseph disease
                     protein 1-like"
                     /codon_start=1
                     /product="ataxin-3-like protein isoform 1"
                     /protein_id="NP_001129467.1"
                     /db_xref="CCDS:CCDS48080.1"
                     /db_xref="GeneID:92552"
                     /db_xref="HGNC:HGNC:24173"
                     /db_xref="MIM:300920"
                     /translation="MDFIFHEKQEGFLCAQHCLNNLLQGEYFSPVELASIAHQLDEEE
                     RMRMAEGGVTSEEYLAFLQQPSENMDDTGFFSIQVISNALKFWGLEIIHFNNPEYQKL
                     GIDPINERSFICNYKQHWFTIRKFGKHWFNLNSLLAGPELISDTCLANFLARLQQQAY
                     SVFVVKGDLPDCEADQLLQIISVEEMDTPKLNGKKLVKQKEHRVYKTVLEKVSEESDE
                     SGTSDQDEEDFQRALELSRQETNREDEHLRSTIELSMQGSSGNTSQDLPKTSCVTPAS
                     EQPKKIKEDYFEKHQQEQKQQQQQSDLPGHSSYLHERPTTSSRAIESDLSDDISEGTV
                     QAAVDTILEIMRKNLKIKGEK"
     regulatory      1383..1388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /note="hexamer: ATTAAA"
     polyA_site      1407
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /note="major polyA site"
ORIGIN      
        1 ataaggtttg aaaacctaac atctgttaca tggctatcca caaactgccc aggtaactgc
       61 catagctggg catacaacat cttccggcat acctacagaa actcacggat acaattaaca
      121 tggatttcat ctttcatgag aaacaggaag gtttcctgtg tgctcagcac tgtctgaaca
      181 atctattgca aggagaatat tttagccctg tggaattagc ctcaattgca catcagctag
      241 atgaagaaga gaggatgaga atggcagaag gaggagtcac cagtgaagag tatcttgcat
      301 ttttacagca gccttcagaa aacatggatg ataccggttt cttctccatt caggtaataa
      361 gcaatgcctt gaagttctgg ggtttagaga tcatccattt caataatcct gaatatcaga
      421 agctcggcat tgatcctata aatgaaagat cttttatatg taattataaa caacactggt
      481 ttactattag aaaatttgga aaacactggt ttaacttgaa ttctctcttg gcgggtccag
      541 aattaatatc agatacatgc cttgcaaatt tcttggctcg attacaacaa caagcatatt
      601 ctgtatttgt tgtcaagggt gatctgccag actgtgaagc tgaccaactc ctgcagatca
      661 tcagtgtcga agagatggat acaccaaaac ttaatggaaa aaaattagta aaacaaaaag
      721 agcatagagt ctataaaaca gtccttgaaa aagtatcaga agaaagtgat gagtctggaa
      781 catcagacca agatgaggag gattttcaga gggcccttga actaagccgc caagaaacca
      841 atagagaaga tgaacatctc cgcagtacta ttgagttaag catgcaaggt agttccggaa
      901 acacatcgca agatcttcca aagacatcat gtgtaactcc tgcttcagaa cagccgaaga
      961 aaataaaaga agactatttt gaaaagcatc agcaggaaca gaagcagcag caacaacagt
     1021 cagatctgcc gggccacagt tcatacctac acgaaaggcc aacaacaagt tcgagagcaa
     1081 ttgagagtga tctcagtgat gacatcagtg aaggcacagt acaggccgct gtcgacacca
     1141 ttttagaaat tatgagaaag aatttgaaaa tcaaagggga aaaataatgc ctttaaaaat
     1201 aatttagata gtcatacttt ccaacattat cctgtgtgat tatactgtag gatccatttt
     1261 ggtcatctgt caaagagatg aggaaataag gcttttagac agtttgcaaa caaaatgacg
     1321 agagagatgt gggactaaat aatgatcgtt caactactag ccaaggagac attcagcaat
     1381 taattaaatt taaattagct ttcaaaa
//
