LOCUS       NM_175748               3494 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens ubiquitin protein ligase E3 component n-recognin 7
            (UBR7), transcript variant 2, mRNA.
ACCESSION   NM_175748 NM_018108
VERSION     NM_175748.4
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 3494)
  AUTHORS   Adhikari,S., Singh,V., Nandi,S., Ghosal,M., Raj,N.S., Khanna,J.,
            Bhattacharya,A., Kabiraj,A., Mondal,A., Vasudevan,M., Senapati,D.,
            Roy,H., Sengupta,K., Notani,D. and Das,C.
  TITLE     UBR7 in concert with EZH2 inhibits the TGF-beta signaling leading
            to extracellular matrix remodeling
  JOURNAL   Cell Rep 43 (7), 114394 (2024)
   PUBMED   38923455
  REMARK    GeneRIF: UBR7 in concert with EZH2 inhibits the TGF-beta signaling
            leading to extracellular matrix remodeling.
REFERENCE   2  (bases 1 to 3494)
  AUTHORS   Hogan,A.K., Sathyan,K.M., Willis,A.B., Khurana,S., Srivastava,S.,
            Zasadzinska,E., Lee,A.S., Bailey,A.O., Gaynes,M.N., Huang,J.,
            Bodner,J., Rosencrance,C.D., Wong,K.A., Morgan,M.A., Eagen,K.P.,
            Shilatifard,A. and Foltz,D.R.
  TITLE     UBR7 acts as a histone chaperone for post-nucleosomal histone H3
  JOURNAL   EMBO J 40 (24), e108307 (2021)
   PUBMED   34786730
  REMARK    GeneRIF: UBR7 acts as a histone chaperone for post-nucleosomal
            histone H3.
REFERENCE   3  (bases 1 to 3494)
  AUTHORS   Srivastava,S., Sahu,U., Zhou,Y., Hogan,A.K., Sathyan,K.M.,
            Bodner,J., Huang,J., Wong,K.A., Khalatyan,N., Savas,J.N.,
            Ntziachristos,P., Ben-Sahra,I. and Foltz,D.R.
  TITLE     NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T
            cell acute lymphoblastic leukemia
  JOURNAL   Sci Adv 7 (5) (2021)
   PUBMED   33571115
  REMARK    GeneRIF: NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to
            promote T cell acute lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3494)
  AUTHORS   Li,C., Beauregard-Lacroix,E., Kondratev,C., Rousseau,J., Heo,A.J.,
            Neas,K., Graham,B.H., Rosenfeld,J.A., Bacino,C.A., Wagner,M.,
            Wenzel,M., Al Mutairi,F., Al Deiab,H., Gleeson,J.G., Stanley,V.,
            Zaki,M.S., Kwon,Y.T., Leroux,M.R. and Campeau,P.M.
  TITLE     UBR7 functions with UBR5 in the Notch signaling pathway and is
            involved in a neurodevelopmental syndrome with epilepsy, ptosis,
            and hypothyroidism
  JOURNAL   Am J Hum Genet 108 (1), 134-147 (2021)
   PUBMED   33340455
  REMARK    GeneRIF: UBR7 functions with UBR5 in the Notch signaling pathway
            and is involved in a neurodevelopmental syndrome with epilepsy,
            ptosis, and hypothyroidism.
REFERENCE   5  (bases 1 to 3494)
  AUTHORS   Adhikary,S., Chakravarti,D., Terranova,C., Sengupta,I.,
            Maitituoheti,M., Dasgupta,A., Srivastava,D.K., Ma,J., Raman,A.T.,
            Tarco,E., Sahin,A.A., Bassett,R., Yang,F., Tapia,C., Roy,S., Rai,K.
            and Das,C.
  TITLE     Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase
            and breast tumor suppressor
  JOURNAL   Nat Commun 10 (1), 1398 (2019)
   PUBMED   30923315
  REMARK    GeneRIF: Results established UBR7 as a histone H2B monoubiquitin
            ligase that suppresses tumorigenesis and metastasis of
            triple-negative breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3494)
  AUTHORS   Zimmerman,S.W., Yi,Y.J., Sutovsky,M., van Leeuwen,F.W., Conant,G.
            and Sutovsky,P.
  TITLE     Identification and characterization of RING-finger ubiquitin ligase
            UBR7 in mammalian spermatozoa
  JOURNAL   Cell Tissue Res 356 (1), 261-278 (2014)
   PUBMED   24664117
  REMARK    GeneRIF: These data provide the first evidence of ubiquitin ligase
            activity in mammalian spermatozoa and indicate UBR7 involvement in
            spermiogenesis.
REFERENCE   7  (bases 1 to 3494)
  AUTHORS   Lee,M.J., Pal,K., Tasaki,T., Roy,S., Jiang,Y., An,J.Y., Banerjee,R.
            and Kwon,Y.T.
  TITLE     Synthetic heterovalent inhibitors targeting recognition E3
            components of the N-end rule pathway
  JOURNAL   Proc Natl Acad Sci U S A 105 (1), 100-105 (2008)
   PUBMED   18162545
REFERENCE   8  (bases 1 to 3494)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB047433.1 and BC051819.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_175748.3.
            
            Summary: This gene encodes a UBR box-containing protein that
            belongs to the E3 ubiquitin ligase family. The protein also
            contains a plant homeodomain (PHD) in the C-terminus. In mammals,
            the encoded protein recognizes N-degrons, the destabilizing
            N-terminal residues of short-lived proteins, which results in
            ubiquitinylation, and proteolysis via the proteasome. [provided by
            RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the supported protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC015046.1, SRR1803613.255047.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000013070.11/ ENSP00000013070.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                DB047433.1         201-238
            39-3494             BC051819.1         1-3456
FEATURES             Location/Qualifiers
     source          1..3494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     gene            1..3494
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /note="ubiquitin protein ligase E3 component n-recognin 7"
                     /db_xref="GeneID:55148"
                     /db_xref="HGNC:HGNC:20344"
                     /db_xref="MIM:613816"
     exon            1..186
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1314
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /EC_number="2.3.2.27"
                     /note="N-recognin-7; RING-type E3 ubiquitin transferase
                     UBR7; ubiquitin protein ligase E3 component n-recognin 7
                     (putative)"
                     /codon_start=1
                     /product="putative E3 ubiquitin-protein ligase UBR7"
                     /protein_id="NP_786924.2"
                     /db_xref="CCDS:CCDS9909.1"
                     /db_xref="GeneID:55148"
                     /db_xref="HGNC:HGNC:20344"
                     /db_xref="MIM:613816"
                     /translation="MAGAEGAAGRQSELEPVVSLVDVLEEDEELENEACAVLGGSDSE
                     KCSYSQGSVKRQALYACSTCTPEGEEPAGICLACSYECHGSHKLFELYTKRNFRCDCG
                     NSKFKNLECKLLPDKAKVNSGNKYNDNFFGLYCICKRPYPDPEDEIPDEMIQCVVCED
                     WFHGRHLGAIPPESGDFQEMVCQACMKRCSFLWAYAAQLAVTKISTEDDGLVRNIDGI
                     GDQEVIKPENGEHQDSTLKEDVPEQGKDDVREVKVEQNSEPCAGSSSESDLQTVFKNE
                     SLNAESKSGCKLQELKAKQLIKKDTATYWPLNWRSKLCTCQDCMKMYGDLDVLFLTDE
                     YDTVLAYENKGKIAQATDRSDPLMDTLSSMNRVQQVELICEYNDLKTELKDYLKRFAD
                     EGTVVKREDIQQFFEEFQSKKRRRVDGMQYYCS"
     exon            187..320
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            321..381
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            382..477
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            478..531
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            532..637
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            638..846
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            847..996
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1159
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1221
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..3494
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3475..3480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /note="hexamer: AATAAA"
     polyA_site      3494
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /note="major polyA site"
ORIGIN      
        1 gccggggccg agccgctgtt cggctgacag ttgaggatgg ccggagccga gggcgccgct
       61 gggcggcagt cggagctgga gcccgtggta tcgttggtcg acgtccttga ggaggacgag
      121 gagctggaga atgaggcgtg cgctgtcctg ggcggcagcg actccgagaa gtgctcctac
      181 tctcagggct cagtaaagag acaagcacta tatgcctgta gtacctgcac cccagaggga
      241 gaagaaccag caggaatttg tttagcttgc agttatgaat gtcatggaag tcacaaacta
      301 tttgagctat acacaaaaag aaattttcgt tgtgattgtg gaaacagcaa gtttaaaaat
      361 ttggaatgca aattacttcc tgacaaagca aaggtaaatt ctggcaataa gtacaatgac
      421 aacttttttg gattgtactg catttgcaag agaccttatc ctgatcctga agacgagatt
      481 ccagatgaga tgatccagtg cgtagtctgt gaagactggt tccatggaag gcatcttggt
      541 gccattcccc ctgagagtgg ggattttcag gagatggtat gccaggcctg catgaaacgt
      601 tgttcttttt tgtgggctta tgctgcacaa ttggcagtaa ccaaaatatc cactgaggat
      661 gatggattgg tgcggaacat tgatggaata ggtgatcagg aagttatcaa acctgaaaat
      721 ggagagcatc aagatagtac cctcaaagag gatgttccag aacagggaaa ggatgatgtc
      781 cgggaggtta aagtagagca gaacagtgaa ccatgtgccg gctctagttc tgaatctgat
      841 ctccagacag tgtttaagaa tgaaagcctc aacgcagaat caaaatctgg ctgcaaactt
      901 caggagctta aagctaagca gcttataaag aaagacactg ccacctattg gcccctgaac
      961 tggcgtagca agttgtgtac ctgccaagac tgtatgaaaa tgtatggaga tctagatgtc
     1021 ttattcctga cagatgaata cgacacagtt ctggcttatg aaaacaaagg gaagattgcc
     1081 caggccactg acaggagcga tcccctaatg gataccctta gcagcatgaa tagagtccag
     1141 caagtggaac tcatttgtga atacaatgat ttgaagactg aacttaaaga ctatctcaag
     1201 agatttgctg atgaaggcac ggttgttaag agagaggaca ttcagcagtt ctttgaagag
     1261 tttcagtcaa aaaagagaag aagagtggat gggatgcagt attactgcag ctagagtgga
     1321 gtatgaagct ttctcattca agccaatgaa aatgcgcttc ccattcttgg aataaaagag
     1381 gtgtggttca catttggccc cctttccgtc ctcctctgtt tggagaggcc tcgcgctccc
     1441 ttcattctct ttagctgcag tagccaccgt gtggatgctg acttcacagc cagcgtcctc
     1501 tgtgactcag ctgatgcagc tcattccaca gacttctcca gtgtactcct actccagtgc
     1561 acccagggtt atttgcatag tttttaagtt tgattttgtt ttgagaaagc aaattggtgt
     1621 cttgtttaat gatctgttat ttcactccca gatgtgtgtg ttttgccaca gagctgttgc
     1681 cttccagaac ctcctccgca ggcatcacgg aaggctctct tcccgtcacc tagaacctct
     1741 acaggtcccc tcgcccctat gatcgtggtg ccttgggtca aagcttcctc aagcctggtc
     1801 tgctccttct ttcacgtccc tgttttctga ggtttggtca tagcttagaa aggatcttgg
     1861 ggcttgtttt ctctaggccc aacctccaga gtagccagga ctgatggttt tctggtctgg
     1921 atgtctgtca caggcggaga gattaacaga tgacagggtt gaggaagcaa gcctttgtta
     1981 tgaattttac taatacagtt caagtgaaat tttcgttcat gattctattg gcactagaat
     2041 tagaatttca gtactgtagt gctcacaggg cttcctggag aacatttgcc cgtatactag
     2101 tcccttctct gctgcctaga aaacagaccg ggtctcaccc ctgtgaaatc ttggtggttt
     2161 acgaagtcct ctggatttct tgatattatc agggatattc ataagcatat atcaaaaatg
     2221 gacctatttt gatattctgt tatgaaaatg ttattagaac cccaataaat tattattttt
     2281 cccccttgaa tctgctaaag aaaacagatc ctgacttagc ttacttgaaa taagcagggc
     2341 agggagccct gttttggaag agacagactg tggaagagat tacaaacaag gcccgaggct
     2401 gcacgaatga tgagttttgt gtatataatg ttaatgtcca ccgccacttc cctaacgact
     2461 atgagatctt ttttttgaag atcctcatgg aaggttgtac agagccccac atttgagggg
     2521 aagtcctttc agttgatatg agatctcttt aacacccctc agtctatgta ggaaatgcct
     2581 tgtgatacat agagaaccct cagcttctct ctgcctctgg aggaccaagg tctttcctga
     2641 cagtcggaga cacaccttga tgtatgttaa taaaagcatt tcaggctgtg gggccaccat
     2701 gtatattaat actccttatg tgtccagcat ctgtgtattc attcgagtgc ccaatccctg
     2761 gatgagatga actaggcctt ataaaaagtc aaagcctcaa agaaatggca caaccatgtt
     2821 cttcggcact caggctccta attgcagatc ctcacgaagg gtggtatgtg gagctggaag
     2881 gtcttgtggc cacaggacat gctggtgagc cctgagctgg ccttgtgcag agggctccgt
     2941 tcaaaggctc ggggtgtctt tgaggttgtt tatcaagctg gggaactctt ccaagtctga
     3001 caatgtttcg aacccttttt gcaaggttgc actattagta taccatcatg tccggaaaac
     3061 ttttaatctt ctcaaatatc tgatgtaact accagaaagt cccttacttc ctatgaccaa
     3121 tcaggaccaa gtcttggagg tgatgtgtta cattacgtgc agcacaatag taccgatcag
     3181 ttaactcagc gctgaagggc ttgttttatg aaaggtacta ttccttcttt cacattaact
     3241 ggaaacctct ttttttacct gttgttcaca actagttttc ttattgactg tattggactg
     3301 tctcttcttg tagagactga ttttggccaa catattaatg catgttttat gcaaaacaca
     3361 aatatgatat tagttgcttt taaggagttc tggcattgta tgtgcatttt tgtagaaatt
     3421 gttactggac ttataattac atacttaact ctgatcaggt ttctgtaaaa tttaaataaa
     3481 accaatacaa aata
//
