LOCUS       NM_014948               4300 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens U-box domain containing 5 (UBOX5), transcript variant
            1, mRNA.
ACCESSION   NM_014948
VERSION     NM_014948.4
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 4300)
  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   2  (bases 1 to 4300)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4300)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4300)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 4300)
  AUTHORS   Daakour,S., Hajingabo,L.J., Kerselidou,D., Devresse,A.,
            Kettmann,R., Simonis,N., Dequiedt,F. and Twizere,J.C.
  TITLE     Systematic interactome mapping of acute lymphoblastic leukemia
            cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and
            FBWX7 common interactor
  JOURNAL   BMC Cancer 16, 335 (2016)
   PUBMED   27229929
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4300)
  AUTHORS   Marin,I.
  TITLE     Ancient origin of animal U-box ubiquitin ligases
  JOURNAL   BMC Evol Biol 10, 331 (2010)
   PUBMED   20979629
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4300)
  AUTHORS   Pringa,E., Martinez-Noel,G., Muller,U. and Harbers,K.
  TITLE     Interaction of the ring finger-related U-box motif of a nuclear dot
            protein with ubiquitin-conjugating enzymes
  JOURNAL   J Biol Chem 276 (22), 19617-19623 (2001)
   PUBMED   11274149
REFERENCE   8  (bases 1 to 4300)
  AUTHORS   Martinez-Noel,G., Niedenthal,R., Tamura,T. and Harbers,K.
  TITLE     A family of structurally related RING finger proteins interacts
            specifically with the ubiquitin-conjugating enzyme UbcM4
  JOURNAL   FEBS Lett 454 (3), 257-261 (1999)
   PUBMED   10431818
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB020667.1, AL121891.22 and
            BM992259.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014948.3.
            
            Summary: This gene encodes a U-box domain containing protein. The
            encoded protein interacts with E2 enzymes and may play a role in
            the ubiquitination pathway. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB020667.1, SRR1660809.99974.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217173.7/ ENSP00000217173.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2394              AB020667.1         14-2407
            2395-4196           AL121891.22        22783-24584         c
            4197-4300           BM992259.1         18-121              c
FEATURES             Location/Qualifiers
     source          1..4300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..4300
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /note="U-box domain containing 5"
                     /db_xref="GeneID:22888"
                     /db_xref="HGNC:HGNC:17777"
                     /db_xref="MIM:619675"
     exon            1..100
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /inference="alignment:Splign:2.1.0"
     exon            101..195
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1767
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /EC_number="2.3.2.27"
                     /note="isoform a is encoded by transcript variant 1; ring
                     finger protein 37; RING-type E3 ubiquitin transferase
                     RNF37; ubiquitin conjugating enzyme 7 interacting protein
                     5; U-box domain-containing protein 5; ubcM4-interacting
                     protein 5"
                     /codon_start=1
                     /product="RING finger protein 37 isoform a"
                     /protein_id="NP_055763.1"
                     /db_xref="CCDS:CCDS13046.1"
                     /db_xref="GeneID:22888"
                     /db_xref="HGNC:HGNC:17777"
                     /db_xref="MIM:619675"
                     /translation="MVINLCLPQFRPRIHCNKISADGYEVENLISEDLTKRSHGFRTE
                     YFIKPPVYVTVSFPFNVEICRINIDLTAGGGQNVTGLEMYTSASSSRVSWNTPQCRTL
                     GPAEPSVPDKEAFTLVGKVLLKNQSQVVFSHRGFKARPPFGAMEATLPSPAVVAQELW
                     NKGALSLSHVAHLRICITHVTGGGIPCIKRLEVWGQPAKTCSQEVIDSILLVTSENLP
                     QDVALQAPALPMESDCDPGDQPESQQAPSSLQKLAEIIQDVPEEFLDPITLEIMPCPM
                     LLPSGKVIDQSTLEKCNRSEATWGRVPSDPFTGVAFTPHSQPLPHPSLKARIDHFLLQ
                     HSIPGCHLLGRAQTALAVIPSSIVLPSQKRKIEQAEHVPDSNFGVNASCFSATSPLVL
                     PTTSEHTAKKMKATNEPSLTHMDCSTGPLSHEQKLSQSLEIALASTLGSMPSFTARLT
                     RGQLQHLGTRGSNTSWRPGTGSEQPGSILGPECASCKRVFSPYFKKEPVYQLPCGHLL
                     CRPCLGEKQRSLPMTCTACQRPVASQDVLRVHF"
     exon            196..1396
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1558
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1559..4300
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2240..2245
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /note="hexamer: AATAAA"
     polyA_site      2263
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /note="major polyA site"
     regulatory      4279..4284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /note="hexamer: AATAAA"
     polyA_site      4300
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /note="major polyA site"
ORIGIN      
        1 gctgtgaggc tcggagtcgc cggaggagcc agtatctgtg tcgccgccgc ccgcggcgtc
       61 cccggtttgg tgttgcggcg cccaccttcg ggaggatcag gctgcttctg atgcttggaa
      121 gatatcctct cagccacaaa gatggtaata aatctttgcc tcccacagtt cagaccaaga
      181 attcactgca acaagatatc agctgatggt tacgaagtag aaaatctcat ctctgaagat
      241 ctcacaaaga gaagtcatgg tttcaggaca gagtatttca ttaagccacc agtctatgtg
      301 acagtttcat ttccctttaa tgtggaaatc tgtaggatca acatagacct cacagctggg
      361 ggaggtcaga acgtcactgg cctggaaatg tacacatctg cctcatctag cagagtgtct
      421 tggaatacgc cccagtgccg gaccctgggc ccagctgagc catctgtccc agacaaggag
      481 gcgttcacct tggtaggcaa agtcttactg aaaaaccaga gccaagtggt gtttagccac
      541 aggggcttca aggccaggcc cccttttggc gcgatggaag ccacactccc ctcccctgct
      601 gttgtggccc aggagctctg gaataaaggg gctctttccc ttagccacgt ggcccactta
      661 aggatctgta tcacccatgt gacaggcggc ggtatccctt gtatcaagcg gttggaagtg
      721 tggggtcagc cggccaagac ctgctcccag gaagtgatag acagcatcct gctggtcacc
      781 tcagagaacc tgcctcagga tgtggctctg caggctccag ccttgcccat ggaaagtgac
      841 tgtgaccctg gggaccagcc tgagagccag caggctccct ccagcctgca gaagctggcc
      901 gagatcattc aggatgtgcc tgaggagttc ctggatccca tcaccctgga gatcatgcct
      961 tgtcccatgc tgctgccctc aggcaaggtc atcgaccaga gcacactgga gaagtgtaac
     1021 cgcagtgaag ccacatgggg ccgagtgccc agtgaccctt tcacgggggt agcttttact
     1081 ccgcactctc agcccctgcc tcacccctcc ctcaaggccc ggattgacca tttcctgctc
     1141 cagcactcca tccctggctg ccacctgctt gggagagcac agacggcatt ggcagtgatc
     1201 ccttcttcca ttgttctgcc ctctcagaaa aggaagatag agcaggctga acatgtccca
     1261 gacagtaact ttggtgtaaa tgcttcctgt ttttctgcca caagcccttt ggtcttaccc
     1321 actacctcag agcacactgc taagaaaatg aaagccacca atgagcccag cctgacacat
     1381 atggactgct cgacaggtcc actgtcccac gagcagaagc tgtcacaaag cttggaaatt
     1441 gccttggcat ccacccttgg ctctatgccc tccttcacgg cacggctgac caggggacag
     1501 ctccagcacc ttggcacaag agggagcaac acttcctgga ggcctggcac cggctcggag
     1561 cagcctggga gcatcctggg ccccgaatgt gcctcctgca aaagagtatt ttctccctac
     1621 ttcaaaaagg agccggtgta ccagctgccc tgcggccacc tcctgtgccg accctgcctg
     1681 ggtgagaagc aacgctccct gcccatgacg tgcacagcct gccagcggcc ggttgctagc
     1741 caagacgtgc tgcgggtcca cttctgagtg actgacctcc actggaggag acccattgct
     1801 gggaggagct gagggggaac aggagcaggg ccacagcacc cctgaggtct ggccaggccc
     1861 caggcacaga gctgcctgct ccctcccggg gctcttcttc atcacctcac ggtatagcac
     1921 attgcttctg cgctggtggc aatagggcaa caaagccata ggccagaggg cggggggatg
     1981 tccctgcctc cctgccaccc cccctgcctg agcccaggac ccactggagc cagccccacc
     2041 ctaggcagga agacccctgc tgagggcccc cccgtgcagt ccgcataccc ccctgtccag
     2101 cagggcactg tgggtggctc accctagatt gtggcccaga tctcaggagt ctctgccttc
     2161 agggtcatcc aaaagtggac cttgggagca gtgggggtgt ctgtggagtg catgactcag
     2221 ccccccgact cgcagcctta ataaagcgat ggttgacgtc tgctgtgggt ttcctcctgg
     2281 tggagtgcct gtctgtgtca cacactcctg tcgcccacct gcacccacac aagtggagct
     2341 cacagggtag ctgtgtgcag tcactgcagc ttgccaggct gtcattcctg tcgatgacct
     2401 gaaaggacac aaactggaat tttcaggtct gtcccctgca tggggactca gaacccaggt
     2461 ttgcaggtgg gcatacgtgg tgggagggtg gagggctccc tctggccagt gccagctgtg
     2521 ctcagctggc ttcagaaact gctccctgag ggggagcgca gcgtttcctc atgcagttgg
     2581 tttcaggaaa aatacttgtt tataggctgc atcctttttt cagcccaaca tttagcttta
     2641 tggagtgcca aagggaaaat atatccatat ccctacaact tggtactcta tcagattcca
     2701 gccactagaa gaacctcagt gagaaaacac acccgccttt ccctgttccc ttctaagcac
     2761 gtttgggaag gaacagccta aagatgcttt gtaaagctgt attttaccct tgagcttagc
     2821 cgcgggtccc tgtgaaccgg cacattcctt tcctttaggc cgtccagagc tctagtccac
     2881 acccaatact ttagagatct gggtttgggg ttagttgctt tttttttttt ttttttaatt
     2941 gagacagggt tggtctctgt tgcccaagct tgagggcagt ggtgcaatca taactcattg
     3001 cagcctcgaa ctcctgggct taagggatcc ttctacctca gcctcccagg tagcaggaac
     3061 tataggcatg tgccaccatg cccagctaat ttttttattt tttgtagaga caaggtcttg
     3121 ctatgttgtc cagactggtc tcaaactcct gggctcaagc gatcctccca aagtgcttgg
     3181 attgcaggca tgagccactt cgcctagcca agcctgcatt tttttgagtt cctacatcat
     3241 ttgtccacaa agatggcttc agagaggtgg tcacatgctt tgctctgctt cctcttggca
     3301 ctgaccttga tgcagccttc acatgagatt tgagggtccg catggatggc ctgtgccgcc
     3361 ctcgctggcg aggctcctgt gtgcccctgg ctttctgggt ctgtgcctct ccagaatctt
     3421 gtcttaccct ccggtgtgct tgtgttctta gaaaagcccc agcatggccg ggcatggtgg
     3481 ctcatgccta ttatcccagc actttgggag gccaaggtgg gtggatcact tgaggtcaag
     3541 agttcgagac cagcctggcc aacatggcaa aaccccatct ctactaaaaa tacaaaaatt
     3601 agctgggcat ggtggtgtgt gcctgtaatg ccagctactc aggaggctga ggcatgagaa
     3661 tcgcttgaac cggggaggca gaggttgcag tgagccgaga tctcaccact gtactccagc
     3721 ctgggcgacg gagtgagact ccctctcaaa aaaagaaaaa agccccagca tgtagcaaaa
     3781 gcatttcttg gtgagtgtgg gggctggtga ttcccacctt caccctgtca tggtctcagg
     3841 gaacagcctg cttcccacca gcagcttgac acccacagtg tgctctggct gctgggagcc
     3901 catctctcgg agaaaccctg tccacccaac cccgagagcc ctagcgtgca gtcagcgtca
     3961 gcacggcgct cccagatgag ggccggactg cctcccctta agcagctgtg ttggaggtac
     4021 tgcccagacc gctgcaggtc cctggggatc tgcatttcta acaggctcct gcccccaaga
     4081 ctgctctggt ggaaaatcca gcctgggagc ccctggagtg gcaggccctg tcctgggtac
     4141 aggtggagcc acccccagga gttgcgtgtg tttttcttaa ttgaaagact tcccccaaaa
     4201 ggaagtggtc ttttcactac ccttgccaga aacatgctag gcaccactgg gctctgtttc
     4261 tgtcccctag aaaatgggaa taaaatttct tttgctgtca
//
