LOCUS       NM_013444               4242 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens ubiquilin 2 (UBQLN2), mRNA.
ACCESSION   NM_013444
VERSION     NM_013444.4
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 4242)
  AUTHORS   Thumbadoo,K.M., Dieriks,B.V., Murray,H.C., Swanson,M.E.V.,
            Yoo,J.H., Mehrabi,N.F., Turner,C., Dragunow,M., Faull,R.L.M.,
            Curtis,M.A., Siddique,T., Shaw,C.E., Newell,K.L., Henden,L.,
            Williams,K.L., Nicholson,G.A. and Scotter,E.L.
  TITLE     Hippocampal aggregation signatures of pathogenic UBQLN2 in
            amyotrophic lateral sclerosis and frontotemporal dementia
  JOURNAL   Brain 147 (10), 3547-3561 (2024)
   PUBMED   38703371
  REMARK    GeneRIF: Hippocampal aggregation signatures of pathogenic UBQLN2 in
            amyotrophic lateral sclerosis and frontotemporal dementia.
REFERENCE   2  (bases 1 to 4242)
  AUTHORS   Nementzik,L.R., Thumbadoo,K.M., Murray,H.C., Gordon,D., Yang,S.,
            Blair,I.P., Turner,C., Faull,R.L.M., Curtis,M.A., McLean,C.,
            Nicholson,G.A., Swanson,M.E.V. and Scotter,E.L.
  TITLE     Distribution of ubiquilin 2 and TDP-43 aggregates throughout the
            CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and
            frontotemporal dementia
  JOURNAL   Brain Pathol 34 (3), e13230 (2024)
   PUBMED   38115557
  REMARK    GeneRIF: Distribution of ubiquilin 2 and TDP-43 aggregates
            throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral
            sclerosis and frontotemporal dementia.
REFERENCE   3  (bases 1 to 4242)
  AUTHORS   Idera,A., Sharkey,L.M., Kurauchi,Y., Kadoyama,K., Paulson,H.L.,
            Katsuki,H. and Seki,T.
  TITLE     Wild-type and pathogenic forms of ubiquilin 2 differentially
            modulate components of the autophagy-lysosome pathways
  JOURNAL   J Pharmacol Sci 152 (3), 182-192 (2023)
   PUBMED   37257946
  REMARK    GeneRIF: Wild-type and pathogenic forms of ubiquilin 2
            differentially modulate components of the autophagy-lysosome
            pathways.
REFERENCE   4  (bases 1 to 4242)
  AUTHORS   Black,H.H., Hanson,J.L., Roberts,J.E., Leslie,S.N., Campodonico,W.,
            Ebmeier,C.C., Holling,G.A., Tay,J.W., Matthews,A.M., Ung,E.,
            Lau,C.I. and Whiteley,A.M.
  TITLE     UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain
            neuronal health in ALS
  JOURNAL   Elife 12, e79452 (2023)
   PUBMED   36951542
  REMARK    GeneRIF: UBQLN2 restrains the domesticated retrotransposon PEG10 to
            maintain neuronal health in ALS.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4242)
  AUTHORS   Phung,T.H., Tatman,M. and Monteiro,M.J.
  TITLE     UBQLN2 undergoes a reversible temperature-induced conformational
            switch that regulates binding with HSPA1B: ALS/FTD mutations
            cripple the switch but do not destroy HSPA1B binding
  JOURNAL   Biochim Biophys Acta Gen Subj 1867 (2), 130284 (2023)
   PUBMED   36423739
  REMARK    GeneRIF: UBQLN2 undergoes a reversible temperature-induced
            conformational switch that regulates binding with HSPA1B: ALS/FTD
            mutations cripple the switch but do not destroy HSPA1B binding.
REFERENCE   6  (bases 1 to 4242)
  AUTHORS   Murillas,R., Simms,K.S., Hatakeyama,S., Weissman,A.M. and
            Kuehn,M.R.
  TITLE     Identification of developmentally expressed proteins that
            functionally interact with Nedd4 ubiquitin ligase
  JOURNAL   J Biol Chem 277 (4), 2897-2907 (2002)
   PUBMED   11717310
REFERENCE   7  (bases 1 to 4242)
  AUTHORS   Kleijnen,M.F., Shih,A.H., Zhou,P., Kumar,S., Soccio,R.E.,
            Kedersha,N.L., Gill,G. and Howley,P.M.
  TITLE     The hPLIC proteins may provide a link between the ubiquitination
            machinery and the proteasome
  JOURNAL   Mol Cell 6 (2), 409-419 (2000)
   PUBMED   10983987
REFERENCE   8  (bases 1 to 4242)
  AUTHORS   Kaye,F.J., Modi,S., Ivanovska,I., Koonin,E.V., Thress,K., Kubo,A.,
            Kornbluth,S. and Rose,M.D.
  TITLE     A family of ubiquitin-like proteins binds the ATPase domain of
            Hsp70-like Stch
  JOURNAL   FEBS Lett 467 (2-3), 348-355 (2000)
   PUBMED   10675567
REFERENCE   9  (bases 1 to 4242)
  AUTHORS   Kaye,F.J. and Shows,T.B.
  TITLE     Assignment of ubiquilin2 (UBQLN2) to human chromosome xp11.
            23-->p11.1 by GeneBridge radiation hybrids
  JOURNAL   Cytogenet Cell Genet 89 (1-2), 116-117 (2000)
   PUBMED   10894951
REFERENCE   10 (bases 1 to 4242)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI602998.1, AF189009.1,
            BC069237.1, AU310783.1 and AL354793.11.
            
            On Feb 27, 2020 this sequence version replaced NM_013444.3.
            
            Summary: This gene encodes an ubiquitin-like protein (ubiquilin)
            that shares high degree of similarity with related products in
            yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like
            domain and a C-terminal ubiquitin-associated domain. They
            physically associate with both proteasomes and ubiquitin ligases;
            and thus, are thought to functionally link the ubiquitination
            machinery to the proteasome to affect in vivo protein degradation.
            This ubiquilin has also been shown to bind the ATPase domain of the
            Hsp70-like Stch protein. [provided by RefSeq, Oct 2009].
            
            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 is intronless :: AL442081.1, AF189009.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338222.7/ ENSP00000345195.5
            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
            1-12                BI602998.1         43-54
            13-144              AF189009.1         1-132
            145-3320            BC069237.1         50-3225
            3321-3384           AU310783.1         516-579
            3385-4242           AL354793.11        39008-39865
FEATURES             Location/Qualifiers
     source          1..4242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..4242
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /note="ubiquilin 2"
                     /db_xref="GeneID:29978"
                     /db_xref="HGNC:HGNC:12509"
                     /db_xref="MIM:300264"
     exon            1..4242
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             248..2122
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /note="Nedd4 binding protein 4; protein linking IAP with
                     cytoskeleton 2; ubiquitin-like product Chap1/Dsk2"
                     /codon_start=1
                     /product="ubiquilin-2"
                     /protein_id="NP_038472.2"
                     /db_xref="CCDS:CCDS14374.1"
                     /db_xref="GeneID:29978"
                     /db_xref="HGNC:HGNC:12509"
                     /db_xref="MIM:300264"
                     /translation="MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKE
                     EFAVPENSSVQQFKEAISKRFKSQTDQLVLIFAGKILKDQDTLIQHGIHDGLTVHLVI
                     KSQNRPQGQSTQPSNAAGTNTTSASTPRSNSTPISTNSNPFGLGSLGGLAGLSSLGLS
                     STNFSELQSQMQQQLMASPEMMIQIMENPFVQSMLSNPDLMRQLIMANPQMQQLIQRN
                     PEISHLLNNPDIMRQTLEIARNPAMMQEMMRNQDLALSNLESIPGGYNALRRMYTDIQ
                     EPMLNAAQEQFGGNPFASVGSSSSSGEGTQPSRTENRDPLPNPWAPPPATQSSATTST
                     TTSTGSGSGNSSSNATGNTVAAANYVASIFSTPGMQSLLQQITENPQLIQNMLSAPYM
                     RSMMQSLSQNPDLAAQMMLNSPLFTANPQLQEQMRPQLPAFLQQMQNPDTLSAMSNPR
                     AMQALMQIQQGLQTLATEAPGLIPSFTPGVGVGVLGTAIGPVGPVTPIGPIGPIVPFT
                     PIGPIGPIGPTGPAAPPGSTGSGGPTGPTVSSAAPSETTSPTSESGPNQQFIQQMVQA
                     LAGANAPQLPNPEVRFQQQLEQLNAMGFLNREANLQALIATGGDINAAIERLLGSQPS
                     "
     regulatory      3300..3305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /note="hexamer: AATAAA"
     polyA_site      3320
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /note="major polyA site"
     regulatory      4224..4229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /note="hexamer: AATAAA"
     polyA_site      4242
                     /gene="UBQLN2"
                     /gene_synonym="ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4;
                     PLIC2"
                     /note="major polyA site"
ORIGIN      
        1 acaaggcggc ggcggaggag gcccagagac cggagcgcgg agacctcagc cagcggccta
       61 cgcccaggcc tttctccacc ggaggaccag ggaaccgcag tcttcatcac agaggtaccg
      121 tgctccgcgc tccccgcctg acccggccca gcccgctgcg gcggtgcctc cttccttcct
      181 ccttccctcg cgctctctct ttcgcccgcc cgcgccttcc ctgcccgcct gcgtcaccgc
      241 ggccgccatg gctgagaatg gcgagagcag cggccccccg cgcccctccc gcggccctgc
      301 tgcggcccaa ggctcggctg ctgccccggc tgagcctaaa atcatcaaag tcacggtgaa
      361 gactcccaaa gagaaagagg agttcgcggt gcccgagaac agctcggttc agcagtttaa
      421 ggaagcgatt tcgaaacgct tcaaatccca aaccgatcag ctagtgctga tttttgccgg
      481 aaaaatctta aaagatcaag ataccttgat ccagcatggc atccatgatg ggctgactgt
      541 tcaccttgtc atcaaaagcc agaaccgacc tcagggccag tccacgcagc ctagcaatgc
      601 cgcgggaact aacactacct cggcgtcgac tcccaggagt aactccacac ctatttccac
      661 aaatagcaac ccgtttgggt tggggagcct gggaggactt gcaggcctta gcagcctggg
      721 cttgagctcg accaacttct ctgagctcca gagccagatg cagcagcagc ttatggccag
      781 ccctgagatg atgatccaaa taatggaaaa tccctttgtt cagagcatgc tttcgaatcc
      841 cgatctgatg aggcagctca ttatggctaa tccacagatg cagcaattga ttcagagaaa
      901 cccagaaatc agtcacctgc tcaacaaccc agacataatg aggcagacac tcgaaattgc
      961 caggaatcca gccatgatgc aagagatgat gagaaatcaa gacctggctc ttagcaatct
     1021 agaaagcatc ccaggtggct ataatgcttt acggcgcatg tacactgaca ttcaagagcc
     1081 gatgctgaat gccgcacaag agcagtttgg gggtaatcca tttgcctccg tggggagtag
     1141 ttcctcctct ggggaaggta cgcagccttc ccgcacagaa aatcgcgatc cactacccaa
     1201 tccatgggca ccaccgccag ctacccagag ttctgcaact accagcacga ccacaagcac
     1261 tggtagtggg tctggcaata gttccagcaa tgctactggg aacaccgttg ctgccgctaa
     1321 ttatgtcgcc agcatcttta gtaccccagg catgcagagc ctgctgcaac agataactga
     1381 aaacccccag ctgattcaga atatgctgtc ggcgccctac atgagaagca tgatgcagtc
     1441 gctgagccag aatccagatt tggctgcaca gatgatgctg aatagcccgc tgtttactgc
     1501 aaatcctcag ctgcaggagc agatgcggcc acagctccca gccttcctgc agcagatgca
     1561 gaatccagac acactatcag ccatgtcaaa cccaagagca atgcaggctt taatgcagat
     1621 ccagcagggg ctacagacat tagccactga agcacctggc ctgattccga gcttcactcc
     1681 aggtgtgggg gtgggggtgc tgggaaccgc tataggccct gtaggcccag tcacccccat
     1741 aggccccata ggccctatag tcccttttac ccccataggc cccattgggc ccataggacc
     1801 cactggccct gcagcccccc ctggctccac cggctctggt ggccccacgg ggcctactgt
     1861 gtccagcgct gcacctagtg aaaccacgag tcctacatca gaatctggac ccaaccagca
     1921 gttcattcag caaatggtgc aggccctggc tggagcaaat gctccacagc tgccgaatcc
     1981 agaagtcaga tttcagcaac aactggaaca gctcaacgca atggggttct taaaccgtga
     2041 agcaaacttg caggccctaa tagcaacagg aggcgacatc aatgcagcca ttgaaaggct
     2101 gctgggctcc cagccatcgt aatcacattt ctgtacctgg aaaaaaaatg tatcttattt
     2161 ttgataatgg ctcttaaatc tttaaacaca cacacaaaat cgttctttac tttcattttg
     2221 attcttttaa atctgtctag ttgtaagtct aatatgatgc attttaagat ggagtccctc
     2281 cctcctactt ccctcactcc ctttctcctt tgcttatttt tcctaccttc ccttcctctt
     2341 gtctccccac tccctccctc tttgtttcct tccttcctta tttcctttag tttccttcct
     2401 tagccgtttt gagtggtggg aatcaatgct gtttcactca aaagtgttgc atgcaaacac
     2461 ttctctttat tctgcattta ttgtgatttt tggaaacagg tatcaacctt cacagttggg
     2521 tgaacaagtg ttgtcctaca gatgtccaat ttatttgcat ttttaaacat tagcctatga
     2581 tagtaattta atgtagaatg aagatattaa aaacagaagc aaattatttg aagctctcta
     2641 atttgtggta cgatattgct tattgtgact ttggcatgta tttttgctag caaaatgctg
     2701 taagatttat accattgatc ttttttgcta tatttgtata cagtacagta agcacaattg
     2761 gcactgtaca tctaaaaata ttacagtaga atctgagtgt aatatgtgta accaaaatga
     2821 gaaagaatac aagaaatgtt tctggagcta gttatgtctc acaattttgt agaatcttac
     2881 agcatctttg ataaacttct cagtgaaaat gttggctagg caagttcagt taaaatatag
     2941 tagaaatgtt tatcctggta tctctaagta tacatttaat tgtacagaaa atttacagtg
     3001 taacattgtg tcaacatttg cagattgact gtatatgacc ttaatctttg tgcagcctga
     3061 aggatcagtg tagtaatgcc aggaaagtgc tttttaccta agacttcctt ctcagcttct
     3121 cccataaaga gaccctaata tgcattttga tttgtaattg gaaatgtaac tttcactgaa
     3181 agtgtcatgt gatgtttgca ttacttttaa ctgctatgta taaaggaaag tgtgtctttt
     3241 gacttcatca gttatttctc ttgtgcacag agaaaaatgc attaaaaatg actaaaaaaa
     3301 ataaaaaatt aaaaaatgga taaatctttt ctttttgcct tttggcccta ggatcgtgtt
     3361 taggaggatt atcccacccc gagattatat aaatcttatc ctatatttct ctaacttata
     3421 tggttttatt tagaaaatgt tttgtcctgt ctggaattat cttgatgtat ggatttaggt
     3481 attctaactt ttttgcccca aagggttagc cagttgttaa catatttacc ttttccccca
     3541 acatatgaaa tgtcatacat gtatatactt tattctgtgt ttggattccc tttagttcca
     3601 ttgaacattg tggcaccagt acaccagcct gtagatgagt tagaaatggg actttgtatc
     3661 ttttaatgtg agacctcctc ttgatctttt ttatttttta caatattctg acgattctga
     3721 catgtttatt ttaccagatg aattttacag ttaatagatt cttcccccaa aaatatattg
     3781 agaatttggt tgggattctc ttaaattgat atgactgtga ggactacaga attgcattgc
     3841 tttccagaaa catgttgcct tgtttctgaa aaactttata tatccttcaa gagagtttta
     3901 cttaaatcct atataatttg taataaatat gttcctaggt aatacagaca tacagggaac
     3961 acgttgatac tgcttattgg agcttttaat atgttaccta tgtggtcatt tttgctatat
     4021 aggagaagaa tttatttgca tcgattattt taaattggca atttattgaa atctattaat
     4081 tttagagata ttcatttgat ccttttgagt ttttccaggt gagaaatcct atcaattatg
     4141 ttataattat atgttttcct tttcaaaatt tataacataa tttctgactg catgggttaa
     4201 acattttcat aacagtgcta aataataaag gtggcagtgg ca
//
