LOCUS       NM_017481               2379 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ubiquilin 3 (UBQLN3), transcript variant 2, mRNA.
ACCESSION   NM_017481
VERSION     NM_017481.4
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 2379)
  AUTHORS   Abu-Halima,M., Belkacemi,A., Ayesh,B.M., Simone Becker,L.,
            Sindiani,A.M., Fischer,U., Hammadeh,M., Keller,A. and Meese,E.
  TITLE     MicroRNA-targeting in spermatogenesis: Over-expressions of
            microRNA-23a/b-3p and its affected targeting of the genes ODF2 and
            UBQLN3 in spermatozoa of patients with oligoasthenozoospermia
  JOURNAL   Andrology 9 (4), 1137-1144 (2021)
   PUBMED   33784796
  REMARK    GeneRIF: MicroRNA-targeting in spermatogenesis: Over-expressions of
            microRNA-23a/b-3p and its affected targeting of the genes ODF2 and
            UBQLN3 in spermatozoa of patients with oligoasthenozoospermia.
REFERENCE   2  (bases 1 to 2379)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2379)
  AUTHORS   Yuan,S., Qin,W., Riordan,C.R., McSwiggin,H., Zheng,H. and Yan,W.
  TITLE     Ubqln3, a testis-specific gene, is dispensable for embryonic
            development and spermatogenesis in mice
  JOURNAL   Mol Reprod Dev 82 (4), 266-267 (2015)
   PUBMED   25776854
  REMARK    GeneRIF: Functional analysis of the orthologous mouse gene.
REFERENCE   4  (bases 1 to 2379)
  AUTHORS   Marin,I.
  TITLE     The ubiquilin gene family: evolutionary patterns and functional
            insights
  JOURNAL   BMC Evol Biol 14, 63 (2014)
   PUBMED   24674348
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2379)
  AUTHORS   Malcher,A., Rozwadowska,N., Stokowy,T., Kolanowski,T.,
            Jedrzejczak,P., Zietkowiak,W. and Kurpisz,M.
  TITLE     Potential biomarkers of nonobstructive azoospermia identified in
            microarray gene expression analysis
  JOURNAL   Fertil Steril 100 (6), 1686-94 (2013)
   PUBMED   24012201
REFERENCE   6  (bases 1 to 2379)
  AUTHORS   Song,M.H., Choi,K.U., Shin,D.H., Lee,C.H. and Lee,S.Y.
  TITLE     Identification of the cancer/testis antigens AKAP3 and CTp11 by
            SEREX in hepatocellular carcinoma
  JOURNAL   Oncol Rep 28 (5), 1792-1798 (2012)
   PUBMED   22941507
REFERENCE   7  (bases 1 to 2379)
  AUTHORS   Bulger,M., Bender,M.A., van Doorninck,J.H., Wertman,B.,
            Farrell,C.M., Felsenfeld,G., Groudine,M. and Hardison,R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
  REMARK    GeneRIF: Includes the identification of the ubiquilin 3 gene
            upstream of the beta-globin gene cluster and surrounding olfactory
            receptor genes.
REFERENCE   8  (bases 1 to 2379)
  AUTHORS   Conklin,D., Holderman,S., Whitmore,T.E., Maurer,M. and
            Feldhaus,A.L.
  TITLE     Molecular cloning, chromosome mapping and characterization of
            UBQLN3 a testis-specific gene that contains an ubiquitin-like
            domain
  JOURNAL   Gene 249 (1-2), 91-98 (2000)
   PUBMED   10831842
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF979648.2, HM005533.1,
            AA725499.1 and BC036743.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017481.3.
            
            Summary: This gene encodes a ubiquitin-like protein (ubiquilin)
            that shares a high degree of similarity with related products in
            yeast, rat and frog. Ubiquilins contain an N-terminal
            ubiquitin-like domain and a C-terminal ubiquitin-associated domain.
            They physically associate with both proteasomes and ubiquitin
            ligases, and are thus thought to functionally link the
            ubiquitination machinery to the proteasome to affect in vivo
            protein degradation. This gene is specifically expressed in the
            testis. It has been suggested that this gene may regulate
            cell-cycle progression during spermatogenesis, however, it has been
            shown that the ortholgous mouse gene is dispensable for embryonic
            development and spermatogenesis. [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode
            the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036743.1, SRR5189667.387957.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311659.5/ ENSP00000347997.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BF979648.2         34-67
            35-2134             HM005533.1         1-2100
            2135-2328           AA725499.1         53-246              c
            2329-2379           BC036743.1         2310-2360
FEATURES             Location/Qualifiers
     source          1..2379
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2379
                     /gene="UBQLN3"
                     /gene_synonym="TUP-1"
                     /note="ubiquilin 3"
                     /db_xref="GeneID:50613"
                     /db_xref="HGNC:HGNC:12510"
                     /db_xref="MIM:605473"
     exon            1..84
                     /gene="UBQLN3"
                     /gene_synonym="TUP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            85..2379
                     /gene="UBQLN3"
                     /gene_synonym="TUP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..2088
                     /gene="UBQLN3"
                     /gene_synonym="TUP-1"
                     /note="testicular tissue protein Li 220"
                     /codon_start=1
                     /product="ubiquilin-3"
                     /protein_id="NP_059509.1"
                     /db_xref="CCDS:CCDS7758.1"
                     /db_xref="GeneID:50613"
                     /db_xref="HGNC:HGNC:12510"
                     /db_xref="MIM:605473"
                     /translation="MAKGGEALPQGSPAPVQDPHLIKVTVKTPKDKEDFSVTDTCTIQ
                     QLKEEISQRFKAHPDQLVLIFAGKILKDPDSLAQCGVRDGLTVHLVIKRQHRAMGNEC
                     PAASVPTQGPSPGSLPQPSSIYPADGPPAFSLGLLTGLSRLGLAYRGFPDQPSSLMRQ
                     HVSVPEFVTQLIDDPFIPGLLSNTGLVRQLVLDNPHMQQLIQHNPEIGHILNNPEIMR
                     QTLEFLRNPAMMQEMIRSQDRVLSNLESIPGGYNVLCTMYTDIMDPMLNAVQEQFGGN
                     PFATATTDNATTTTSQPSRMENCDPLPNPWTSTHGGSGSRQGRQDGDQDAPDIRNRFP
                     NFLGIIRLYDYLQQLHENPQSLGTYLQGTASALSQSQEPPPSVNRVPPSSPSSQEPGS
                     GQPLPEESVAIKGRSSCPAFLRYPTENSTGQGGDQDGAGKSSTGHSTNLPDLVSGLGD
                     SANRVPFAPLSFSPTAAIPGIPEPPWLPSPAYPRSLRPDGMNPAPQLQDEIQPQLPLL
                     MHLQAAMANPRALQALRQIEQGLQVLATEAPRLLLWFMPCLAGTGSVAGGIESREDPL
                     MSEDPLPNPPPEVFPALDSAELGFLSPPFLHMLQDLVSTNPQQLQPEAHFQVQLEQLR
                     SMGFLNREANLQALIATGGDVDAAVEKLRQS"
     regulatory      2356..2361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBQLN3"
                     /gene_synonym="TUP-1"
                     /note="hexamer: ATTACA"
     polyA_site      2379
                     /gene="UBQLN3"
                     /gene_synonym="TUP-1"
                     /note="major polyA site"
ORIGIN      
        1 agaaggcctc aggggtggct gtgtagcaag atgagggagg tttggagccc tgcataaaga
       61 gaaggacggg accacagctg actgctgtgt ccccacagat ctgggcctcc tgctgccacc
      121 atggccaaag gtggagaagc cctgccacag ggcagcccag caccagtcca ggatccccac
      181 ctcatcaagg tgacagtgaa gacgcccaaa gacaaggagg atttctcagt tacagacaca
      241 tgcactatcc agcagctgaa ggaagagata tctcagcgct ttaaggccca ccccgatcag
      301 cttgttctaa tctttgctgg caaaatcctc aaggatcctg actcactggc acagtgtgga
      361 gtgcgagatg gcctcactgt ccacctggtc atcaagaggc agcaccgtgc catgggcaat
      421 gagtgcccag ctgcctctgt ccctacccag ggcccaagtc ctggatcact ccctcagcca
      481 agctccattt acccagcaga tgggccccct gcctttagct taggtctcct cacaggcctc
      541 agtaggctgg gcttggccta tcgtggcttc cctgaccagc caagctccct gatgcggcag
      601 catgtgtctg tgcctgagtt tgtgactcag ctcattgatg accccttcat cccgggtctg
      661 ctgtccaaca caggcctagt acgccagctg gttcttgaca acccccatat gcagcagctg
      721 atccagcaca accctgagat tgggcatatt cttaacaacc cggaaattat gcggcagaca
      781 ctggagtttt tacgtaaccc tgccatgatg caggagatga tacgtagcca ggaccgggtg
      841 ctcagtaact tggagagcat tcctggtggc tacaatgtgc tttgcactat gtacacagat
      901 attatggacc caatgcttaa cgcagtccag gagcagtttg gcggcaatcc ctttgccact
      961 gccactactg ataatgccac caccaccacc agccaacctt caaggatgga gaattgtgac
     1021 cctctcccca acccctggac ttccacacat ggaggctcag gtagcaggca aggaaggcag
     1081 gatggggatc aggatgcacc tgacattaga aataggtttc caaactttct gggtattata
     1141 aggctctatg actatctcca gcaattacac gagaaccccc agtccctagg aacttatcta
     1201 caggggactg catctgccct cagccaaagc caggaaccac caccatcagt aaacagagtt
     1261 cccccatcgt caccctcatc tcaggagcct gggtcaggcc agcctctccc cgaggagtca
     1321 gtagcaatca agggaaggtc ctcctgccca gctttcctga gataccccac agagaacagt
     1381 actggacaag gtggagacca agatggtgca gggaaaagct ctactggaca tagcacaaac
     1441 ttgcctgatc ttgtctcggg gctgggagat tctgccaaca gggttccatt tgctccctta
     1501 tctttttccc ccacggcagc cattcctgga atccctgagc ctccctggct gccatccccg
     1561 gcttatccaa gatctctgag gccagatggc atgaatccag ctccacagtt acaggatgag
     1621 atacaaccac agctgccact gctgatgcac cttcaggcag ccatggcaaa cccccgtgcc
     1681 ctgcaagccc tgcggcagat tgagcagggt ctacaggtcc tagctactga agcacctcgc
     1741 ctcctactct ggttcatgcc ttgcctagca gggacgggta gtgtggcagg aggtatagag
     1801 tctagagaag atccccttat gtctgaggat cctctcccaa atccacctcc tgaggtgttc
     1861 ccagcactgg actctgcaga gctgggcttc ctttcccctc cctttctcca tatgctgcaa
     1921 gatttagtta gtacaaatcc ccagcagctg cagcctgagg ctcactttca ggtgcagctg
     1981 gagcaactgc ggtccatggg ctttctgaat cgtgaagcca atcttcaggc cctcattgct
     2041 acggggggcg acgtggatgc tgctgtggag aagctgagac agtcgtagga gccttattca
     2101 ttcaaaccat acgttttcct ctgtgccttt ttcccatatc ctagttccct agctctccca
     2161 tttttgaata cagctgcatt ataaaccaaa tttactatga agtcctttgc tgtggaggca
     2221 atgttgttcc agagtcaacg aggaagacta atggccaaaa catagtggag gtgctgtgtg
     2281 tgagtcaacc acttgtacca ctataccact ggggggcccc agtctaagct ctgcttatgc
     2341 ctatcttgag atgcaattac acccaatttc caatgtgaa
//
