LOCUS       NM_001136262            7596 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ataxin 7 like 3B (ATXN7L3B), mRNA.
ACCESSION   NM_001136262 NR_015371 XR_040493 XR_040494 XR_040495
VERSION     NM_001136262.2
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 7596)
  AUTHORS   Chen,B., Cha,J.H., Yan,M., Cao,N., Ye,P., Yan,X. and Yang,W.H.
  TITLE     ATXN7L3B promotes hepatocellular carcinoma stemness and is
            downregulated by metformin
  JOURNAL   Biochem Biophys Res Commun 573, 1-8 (2021)
   PUBMED   34375763
  REMARK    GeneRIF: ATXN7L3B promotes hepatocellular carcinoma stemness and is
            downregulated by metformin.
REFERENCE   2  (bases 1 to 7596)
  AUTHORS   Woldegebriel,R., Kvist,J., Andersson,N., Ounap,K., Reinson,K.,
            Wojcik,M.H., Bijlsma,E.K., Hoffer,M.J.V., Ryan,M.M., Stark,Z.,
            Walsh,M., Cuppen,I., van den Boogaard,M.H., Bharucha-Goebel,D.,
            Donkervoort,S., Winchester,S., Zori,R., Bonnemann,C.G.,
            Maroofian,R., O'Connor,E., Houlden,H., Zhao,F., Carpen,O.,
            White,M., Sreedharan,J., Stewart,M., Ylikallio,E. and Tyynismaa,H.
  TITLE     Distinct effects on mRNA export factor GANP underlie neurological
            disease phenotypes and alter gene expression depending on intron
            content
  JOURNAL   Hum Mol Genet 29 (9), 1426-1439 (2020)
   PUBMED   32202298
  REMARK    GeneRIF: Distinct effects on mRNA export factor GANP underlie
            neurological disease phenotypes and alter gene expression depending
            on intron content.
REFERENCE   3  (bases 1 to 7596)
  AUTHORS   Leberfarb,E.Y., Degtyareva,A.O., Brusentsov,I.I., Maximov,V.N.,
            Voevoda,M.I., Autenshlus,A.I., Morozov,D.V., Sokolov,A.V. and
            Merkulova,T.I.
  TITLE     Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are
            associated with gender-specific colorectal cancer risk
  JOURNAL   Per Med 17 (1), 43-54 (2020)
   PUBMED   31797724
  REMARK    GeneRIF: Potential regulatory SNPs in the ATXN7L3B and KRT15 genes
            are associated with gender-specific colorectal cancer risk.
REFERENCE   4  (bases 1 to 7596)
  AUTHORS   Li,W., Atanassov,B.S., Lan,X., Mohan,R.D., Swanson,S.K.,
            Farria,A.T., Florens,L., Washburn,M.P., Workman,J.L. and
            Dent,S.Y.R.
  TITLE     Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA
            Deubiquitinase Module
  JOURNAL   Mol Cell Biol 36 (22), 2855-2866 (2016)
   PUBMED   27601583
  REMARK    GeneRIF: Study reports that ATXN7L3B interacts with ENY2 but not
            other SAGA components. Even though ATXN7L3B localizes in the
            cytoplasm, ATXN7L3B overexpression increases H2Bub1 levels, while
            overexpression of ATXN7L3 decreases H2Bub1 levels.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7596)
  AUTHORS   Tan,J.Y., Vance,K.W., Varela,M.A., Sirey,T., Watson,L.M.,
            Curtis,H.J., Marinello,M., Alves,S., Steinkraus,B., Cooper,S.,
            Nesterova,T., Brockdorff,N., Fulga,T., Brice,A., Sittler,A.,
            Oliver,P.L., Wood,M.J., Ponting,C.P. and Marques,A.C.
  TITLE     Cross-talking noncoding RNAs contribute to cell-specific
            neurodegeneration in SCA7
  JOURNAL   Nat Struct Mol Biol 21 (11), 955-961 (2014)
   PUBMED   25306109
  REMARK    Erratum:[Nat Struct Mol Biol. 2015 Mar;22(3):272. doi:
            10.1038/nsmb0315-272b.. PMID: 25736092]
REFERENCE   6  (bases 1 to 7596)
  AUTHORS   Rajakulendran,S., Roberts,J., Koltzenburg,M., Hanna,M.G. and
            Stewart,H.
  TITLE     Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a
            family with neurodevelopmental delay and ataxia
  JOURNAL   J Neurol Neurosurg Psychiatry 84 (11), 1255-1257 (2013)
   PUBMED   23475819
  REMARK    GeneRIF: This family's complex phenotype is associated with a new
            chromosomal deletion, which suggests potential roles for the two
            genes, KCNC2 and ATXN7L3B, in human neurological disease.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025257.22.
            
            On May 17, 2019 this sequence version replaced NM_001136262.1.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR1803614.17557.1, SRR1803616.148482.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000519948.4/ ENSP00000430000.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7596              AC025257.22        24350-31945
FEATURES             Location/Qualifiers
     source          1..7596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.1"
     gene            1..7596
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
                     /note="ataxin 7 like 3B"
                     /db_xref="GeneID:552889"
                     /db_xref="HGNC:HGNC:37931"
                     /db_xref="MIM:615579"
     exon            1..7596
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
                     /inference="alignment:Splign:2.1.0"
     CDS             279..572
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
                     /note="putative ataxin-7-like protein 3B"
                     /codon_start=1
                     /product="ataxin-7-like protein 3B"
                     /protein_id="NP_001129734.1"
                     /db_xref="CCDS:CCDS53815.1"
                     /db_xref="GeneID:552889"
                     /db_xref="HGNC:HGNC:37931"
                     /db_xref="MIM:615579"
                     /translation="MEEISLANLDTNKLEAIAQEIYVDLIEDSCLGFCFEVHRAVKCG
                     YFYLEFAETGSVKDFGIQPVEDKGACRLPLCSLPGEPGNGPDQQLQRSPPEFQ"
     regulatory      3599..3604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
                     /note="hexamer: AATAAA"
     polyA_site      3618
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
                     /note="major polyA site"
     regulatory      7575..7580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
                     /note="hexamer: AATAAA"
     polyA_site      7596
                     /gene="ATXN7L3B"
                     /gene_synonym="lnc-SCA7"
ORIGIN      
        1 aggaggctgg gtgaggcgct gagacggttt ggcggtgagt cctgggccag gcgcagctga
       61 aaggcccgca acccgggaaa cgtcaaaaca aacagaagga cttgggattc cggagcagtc
      121 gcccctatcg ctgctcctgc agttgcggac gccaccgacc ccgccgccgg aggactgggc
      181 actgaaaggc ctctaggcct aggcgcggcc cgcggagcca gacgtgttgc tgccgtgagt
      241 aaaacgagcg ccctctccgc actcgtttac aaattaaaat ggaggaaatt tcgttggcca
      301 acctggatac taacaagcta gaggccatcg ctcaggagat ttacgtagac ctgatagagg
      361 attcttgttt gggattctgc tttgaggtgc accgggcagt caagtgtggc tacttctacc
      421 tggagttcgc agagactggt agcgtgaagg attttggcat tcagccagtg gaagacaaag
      481 gagcgtgccg cctcccgctt tgctcccttc ccggagaacc tgggaatggg cctgatcagc
      541 agctgcagcg ctcacctccg gaattccagt agctgcaaaa tgagagtctg aaagtggcca
      601 ggacaataac atagactggt cctgtggctt cgaggagtaa gctaagtaga aaaaagtaga
      661 aaaatcagac aaaagtttta attccccctt gaagatccta gcatttaaaa acccaaagtg
      721 gataatttag gaatcctttt tttaaagtgt attacctgga gcaagctctg aagccctggg
      781 caggaggagc tgcacagcct gcgggccatg cagtgcctgt tgatctctaa acacaccagg
      841 atgtgcgcaa gatcctgtag tgcccccagt gcacaggtga gcagttgtgt gcccagcata
      901 taaaattttt ggttcctcag cctttctgtc tgcctgatgt caagggcttc ttggacagtt
      961 tggacgttac agttcgtcag gccgtgatca gtggcctgca gtgggactgc tcctttgata
     1021 tctgaacctc tgttatgggc ttctctgaga caagtaaatg tcaggtgcaa gatctggata
     1081 ctaacagttt cagtttggga aatccaagaa aaagaattat caagtttgat agggaagctc
     1141 tgtagccttg actccagcaa gaagaaaagg tcaaaaccac gtgtttccca aaagtccaga
     1201 ctacaatgat tcagctgact tgaggacaag gcctagcatt tggctgagca gagccctctt
     1261 ccttgccctc caacctggtg gcataggctt ggcaaatgga caacttggtt gtccagacag
     1321 gttgaggatt cggttatgat cccctgggga ggtagcaggg acctctgcaa ctatgcatga
     1381 tttctcaaac ttcaagattc atgtctggat gtattatgct gtggatataa gtttagtagg
     1441 gcggtcattt cctactctga gttactggtt acctagccag tccatgggtg tgacttggtc
     1501 cttaagtcag gtcactatct gcctcccacc ctgggggcag gactgaagta tggaagagca
     1561 tcatggctgt gcaggaggct gtggtttgaa aactgagccc agagggcact ttcagctgcc
     1621 ctcaataatg tgaatggatt agtgctagga gccaaggagc aggactggat tatctcatct
     1681 gactgtgtgc agaatcctgt tgaatgtccc tgttttcttt ggttgggcag tcagagctct
     1741 gctatggtga acatccagac tgtcaccact ttctgtctgc cgctcgaaag ggatagtcct
     1801 ttccactcgg tcccctttgg atcttcttga caacaggagc agtcctttta ttgttagaag
     1861 tcagagaaag acctccagaa tctcctgact ttagggaatg gtatagggga agatgggaag
     1921 taagagtcac atatcaaaac taccctccac tttattccct gagcgagggt ttatgaagta
     1981 taaaggggtg ggagccccga ggtgagcggg aacggtgctg ctttatttga aatgttttct
     2041 tacctcattc tgtgccccag tagggggtcc agcctcatct gtctggcttg gccctgtgtt
     2101 cctcctgtcc cctgctccac tgcctatctg gtgccccagg tgctgcttgc cactccagct
     2161 gtcacattga acagtttcaa ttcagctctt aatgctcctg cttccgaagc ctgcccaatt
     2221 tcttttttct tggcctctgt tttttttttt tctttctttt tcccttgttt ttgtagaaga
     2281 ctcagaggag aatctttctt atggctccct ctgttgagat tggaattgga agagaactta
     2341 attttttgta tttaaaatgc agtgtcatgc ctataagcat ttctcctata taggactgct
     2401 ttgctagtgt gccctcttgc tgtgtcttac ttcataagga gttgtatctt cccacctcca
     2461 tttcaatact gccggttagg acctaagtag aagagcagta aaggctgatt gacacacagg
     2521 gggatggagt tggtccttgt ccattctctc acccttgctg tgcatgtatc aatccttatc
     2581 ccagaaggta ctatttagac tgtatagact gatttagatt acatacttta gaggattaag
     2641 gaaaccatag agtttgggcc ttggaactgt tactgccttg tcctagagtt gtcctgatca
     2701 ggcttggggc ctagttacag attagtctta aagaattgca ttaacttaaa aaaaatcaaa
     2761 ccttggcaag agctaaaata atttggagat atctttgccc ttgacttgta gacgacatct
     2821 aagaggatga agaaaggaga gtctaagtga gactctggcc tacttcctaa caatgtcttg
     2881 gaagtgggat gatggtaaag gagaaaggcc acagtccaat ccctctgcct tcagataggg
     2941 aactcaaatc ctgaaattac tgttttcttt ctggcctttt ctcctggtta gaggaggaag
     3001 cggaaagtag ttttgagtag tattttgttc atattacccc ccttttgttt tttgtttctg
     3061 gcccctctac caatagggca gtagcctcct gccctggatg ggtataaggt gggcttggtc
     3121 caacaggtgc ccagagggta catactcctt tctggggaga gaatgctccc taccatatag
     3181 ttgacagtgg ttaggaactc tccctttccc tacctacctt ccttttaata gcagaattcc
     3241 tatttttccc ttgattatgt gtattgatca ccctgcaatc ctattatgta tctgagtgtg
     3301 tgtgtgtgtg tatgtgtgtg ttatggggga aggggggggt tctttaaaat ttctgtggtt
     3361 tgtggctttt tcttccatac attagttccc accatcgcat gcccagggac cactgcctgg
     3421 cattatcgca tgctgggatc atcgggggag ggtagtgaag ctcaccactg tcctttgttt
     3481 tggagatttt tatttttgca taagtagtcc atcctataca gatagctgat taactgtatt
     3541 cccctttccc ctatggctgc tggtgtaaat aaactgcatc tccccattgg taaacagtaa
     3601 taaaatttta aaaaatgact acttggtcct tggactctgt atattcatct tttaaagctg
     3661 tatgttttca ggcattgaca taatgagata aacgttgaaa tgctattgaa ccttaatact
     3721 tcctccctaa caggagtttt atcagaacag agaaactgtc caaccttgtt tctcaatttg
     3781 gcctgcaaat ttaactgtct gtagcatcca gtgaaagagc caaaccgtat acaatcatcc
     3841 cttttccata tgaggtaaga aggtggtaag ataaatccag tcctgtcact aaaagcccac
     3901 tgtgacagat agttccattt gaattgaact caatatatct tagtaagtac attttaccat
     3961 cattttaagc taatatcctt gttctcaaaa ggtaaagtga ttcacagcag acgatggttc
     4021 tgcctaattt ttttctcaat acttaaaaaa ttacctcaac actttagatc tttcatttca
     4081 tttttaatag taattctgag gtttttcatc ccattcctaa cccagagttt gagcacttcc
     4141 cctagaaact acttagtgat cctgtgtcct aatcagtctc ttgctatgtg ttctaattta
     4201 ttaaagtttc gtattggaca taatactgag attaataaaa attacagaaa tgagtccaga
     4261 gaagaatctg actcaatagg atacctcagg gaagcttata gatgtgtaac atggtattga
     4321 gtcttctctt ctaggagcac tcgatgtact tgtcactgtc cagtttaaat aggccagggc
     4381 caacgtggtg atttgagaaa acttaaaaat ttgacgtgtg aaacccatga tgtaaccata
     4441 gcaggagaaa ttcttcaaat gaaatttcac caagattggg tattttgcct taagtaagat
     4501 ttctactact tttattaaaa ttcactgtag ggatctacta tcaattagct ttcaaataca
     4561 tctgcagcaa atacttttgg ttcctgtttt gtaggtttgg agtttaatat atttagtgct
     4621 aagctaatta gttttctaaa aagataattg caagacccct gctttaccaa atacttgaca
     4681 atgggacttt gaaggttatt tcttatgttt tctgactagt atgatcttta aagaaaaaaa
     4741 aaaacacatt gcataccttt taactaccaa tgtttaacct cctagattta gcatttaact
     4801 acagcatgta ccatcaggtc aagaatctga taaatgattg cttgatgttg acaaagtgaa
     4861 agacaaaatg aagtgtactg aagtaactaa aaattcagga agaactttct tgtgcacaca
     4921 ttaataagta acattgcctt ctcttaagac ctatctgaag tgttgtgaag tttttcttac
     4981 aattttttaa aagagattta tgaagaaact atgtgctaaa agcacaacaa ttattaaatt
     5041 tattttcatg ttgttgttta attatggtta acgaattgcc agttttcaag tcagccagag
     5101 ataataccag atttcagaag ttttactctg ctgtgaagga ttacgagctc tctgattttc
     5161 atttatgttc caaaagatgc ccataatgtt gctttggagg acagcattag aagtgatgtt
     5221 cctattcaaa aaggttttgt ggataaacct taaactcttg gcggtgtttt tgtttgtatt
     5281 tgttttccca tttttgaaaa cattttcaat catatttctt gagactcatt ggaaatatgt
     5341 gagctaaaaa ggaaatacta aattgatttt agagatgaaa aaaaaatctt cagcagcagt
     5401 gacttgccca tagttcaaaa agcaaaaatt tacaagtggt ggaagcaaaa gtagaatgct
     5461 gctgttgtga ctcctaggtc agcggtcttt gttgaagcaa tggagtaata aatcaaacga
     5521 ctaattaaaa acaaaacaat gaaaaatcca tgatgcttat gaacaacgtt agggcaatga
     5581 atttgaaaac aaaaaaaggg aagtctattt taaaatagaa ctcaaaagta actcaaggaa
     5641 ttgttaattt tttaagtaaa tgaatacatc tataactttt aaaacaccac acaattagaa
     5701 ttttatagag aatacagtaa atgaaacaac aacaacaaaa acaggcaaaa taataccaaa
     5761 atagattttt tttttaaatg aagatgttag caaaccaact cctttaaaat aacaaaagta
     5821 aacatcaaca agtcagttta atcacaggat ggcaagattt catctcaaaa tcatcacatt
     5881 accattagag aaaatccatg tgaaaatttg aactgatact gaaaaatagt ttgaaaaaat
     5941 tcaatacgaa ttattgccta aaaaacaaag acattaacaa tatagaaacc aaagctcaag
     6001 aacttgtaca cactgcaaaa gggtatgtac caaaaatcta caccagttac tatacttatt
     6061 aatgaatact tggaagcact ccctttaaaa gcaggaatgg aagaaacaaa atttttactg
     6121 ttctaagatg atatttacat gaacaatttt atagaatcta gaaacagttg ttctcagatg
     6181 acatctacat ctacatggat aattttatag aatctacaaa cataccattg aaagtagtga
     6241 gaaaatttag cacagttact ggatataaga tcaatatcta aaatcagaat accaacattt
     6301 aaaaagtgtt attaaattta gaatgtaatt caacaagtta taacagtcct atgaaataat
     6361 atcacaagaa ctgtgtaaga ttttataaag aaaataatat tttctaatat gttgggaaaa
     6421 tcccaagtaa atggagagaa gatgttcacg cacagaaaat gcaatcaata tcattgctcc
     6481 aaattatgtg aatcggaagc aatctgtatt acaatccaaa tagatgtgct catggaactt
     6541 gacaaattaa ttttaagatt tatatgaaca ccagatgcta gaatagacaa gatctttttg
     6601 acagatgtat attttagttt tggtgcagaa acaatggaat agaatagagt ttagaattag
     6661 atcgaaacac acagattaca cgtttatgtc ttgatgtgtg gttaaatttg tattataatc
     6721 agtggaatat aaaccagtat tgtggaacag attatccata aataataaaa ctgtgctcag
     6781 acacaaaatt aattcctata tggattaaag atttaatgtg taaaagtaaa aaatgtcaaa
     6841 tctttctaga aaaatatagg aggatgtgtt cataattgtg tataagggga aaatttctta
     6901 aaagtacaaa acatagagaa aagattgatg tgttcgacca taataaaaat agaactttct
     6961 gttcattaaa tcatactaga aacaaacaaa ccaataacct gatgtgctag ttgtttagtt
     7021 cttataactg attaaagatt actaacaaaa tagttgtaca attgccaaat gtataaagta
     7081 aaagaacagc tcattcttac aaaaagaaat atgaatggcc aaaaagttgt aaaagttccc
     7141 ttaggttcaa agaaatgcaa actaaaaaca aaataccaat ttaccctact cagtatgatt
     7201 aaattttttt aaatggtgat gacatcaact ctgaaaggca tatggagcaa ttaaaacact
     7261 taaactgcta gtaggctgta aattggtaaa aaatgttttt aaaagcaatt tagaaatacc
     7321 tgttgtggtt gaagacaaaa gtaaccaata tcccaatatt tccacctgtt gcagcattat
     7381 atgtaatagg gaaaaattga aagtaatata cccatttgga atacatatag tcactatact
     7441 gaagtgagaa taaattaacc agagctgtac aaataaaata gtaaacctat gttcttatac
     7501 tttgttgcct ttcttttgat gtttaacaat aggcaaatca atgctgtatg ttgtttaaat
     7561 aattgtgaat atgaaataaa aactatacca aaaata
//
