LOCUS       NM_001018055            2769 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens BRCA1/BRCA2-containing complex subunit 3 (BRCC3),
            transcript variant 2, mRNA.
ACCESSION   NM_001018055
VERSION     NM_001018055.3
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 2769)
  AUTHORS   Li,Y., Chen,X., Xiong,Y., Xu,X., Xie,C., Min,M., Liang,D., Chen,C.
            and Mao,H.
  TITLE     BRCC36 regulates beta-catenin ubiquitination to alleviate vascular
            calcification in chronic kidney disease
  JOURNAL   J Transl Med 22 (1), 820 (2024)
   PUBMED   39227917
  REMARK    GeneRIF: BRCC36 regulates beta-catenin ubiquitination to alleviate
            vascular calcification in chronic kidney disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2769)
  AUTHORS   Shen,H., Gao,Y., Ge,D., Tan,M., Yin,Q., Wei,T.W., He,F., Lee,T.Y.,
            Li,Z., Chen,Y., Yang,Q., Liu,Z., Li,X., Chen,Z., Yang,Y., Zhang,Z.,
            Thistlethwaite,P.A., Wang,J., Malhotra,A., Yuan,J.X., Shyy,J.Y. and
            Gong,K.
  TITLE     BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells:
            Implication in Pulmonary Hypertension
  JOURNAL   Circulation 150 (2), 132-150 (2024)
   PUBMED   38557054
  REMARK    GeneRIF: BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells:
            Implication in Pulmonary Hypertension.
REFERENCE   3  (bases 1 to 2769)
  AUTHORS   Huang,X., Tan,J., Ji,Y., Luo,J., Zhao,Y. and Zhao,J.
  TITLE     BRCC3 mediates inflammation and pyroptosis in cerebral
            ischemia/reperfusion injury by activating the NLRP6 inflammasome
  JOURNAL   CNS Neurosci Ther 30 (3), e14697 (2024)
   PUBMED   38544474
  REMARK    GeneRIF: BRCC3 mediates inflammation and pyroptosis in cerebral
            ischemia/reperfusion injury by activating the NLRP6 inflammasome.
REFERENCE   4  (bases 1 to 2769)
  AUTHORS   Miskinyte,S., Butler,M.G., Herve,D., Sarret,C., Nicolino,M.,
            Petralia,J.D., Bergametti,F., Arnould,M., Pham,V.N., Gore,A.V.,
            Spengos,K., Gazal,S., Woimant,F., Steinberg,G.K., Weinstein,B.M.
            and Tournier-Lasserve,E.
  TITLE     Loss of BRCC3 deubiquitinating enzyme leads to abnormal
            angiogenesis and is associated with syndromic moyamoya
  JOURNAL   Am J Hum Genet 88 (6), 718-728 (2011)
   PUBMED   21596366
  REMARK    GeneRIF: these data strongly suggest that BRCC3, a deubiquitinating
            enzyme that is part of the cellular BRCA1 and BRISC complexes, is
            an important player in angiogenesis and that BRCC3 loss-of-function
            mutations are associated with moyamoya angiopathy.
REFERENCE   5  (bases 1 to 2769)
  AUTHORS   Feng,L., Wang,J. and Chen,J.
  TITLE     The Lys63-specific deubiquitinating enzyme BRCC36 is regulated by
            two scaffold proteins localizing in different subcellular
            compartments
  JOURNAL   J Biol Chem 285 (40), 30982-30988 (2010)
   PUBMED   20656690
  REMARK    GeneRIF: scaffold proteins not only participate in the regulation
            of BRCC36 activity but also determine its subcellular localization
            and cellular functions.
REFERENCE   6  (bases 1 to 2769)
  AUTHORS   Shao,G., Lilli,D.R., Patterson-Fortin,J., Coleman,K.A.,
            Morrissey,D.E. and Greenberg,R.A.
  TITLE     The Rap80-BRCC36 de-ubiquitinating enzyme complex antagonizes
            RNF8-Ubc13-dependent ubiquitination events at DNA double strand
            breaks
  JOURNAL   Proc Natl Acad Sci U S A 106 (9), 3166-3171 (2009)
   PUBMED   19202061
REFERENCE   7  (bases 1 to 2769)
  AUTHORS   Boudreau,H.E., Broustas,C.G., Gokhale,P.C., Kumar,D., Mewani,R.R.,
            Rone,J.D., Haddad,B.R. and Kasid,U.
  TITLE     Expression of BRCC3, a novel cell cycle regulated molecule, is
            associated with increased phospho-ERK and cell proliferation
  JOURNAL   Int J Mol Med 19 (1), 29-39 (2007)
   PUBMED   17143545
  REMARK    GeneRIF: These findings demonstrate that BRCC3 is a novel effector
            of Raf-1, and implicate a role of BRCC3 in modulation of p-ERK,
            cell survival and proliferation.
REFERENCE   8  (bases 1 to 2769)
  AUTHORS   Mallery,D.L., Vandenberg,C.J. and Hiom,K.
  TITLE     Activation of the E3 ligase function of the BRCA1/BARD1 complex by
            polyubiquitin chains
  JOURNAL   EMBO J 21 (24), 6755-6762 (2002)
   PUBMED   12485996
REFERENCE   9  (bases 1 to 2769)
  AUTHORS   Fisch,P., Forster,A., Sherrington,P.D., Dyer,M.J. and Rabbitts,T.H.
  TITLE     The chromosomal translocation t(X;14)(q28;q11) in T-cell
            pro-lymphocytic leukaemia breaks within one gene and activates
            another
  JOURNAL   Oncogene 8 (12), 3271-3276 (1993)
   PUBMED   8247530
REFERENCE   10 (bases 1 to 2769)
  AUTHORS   Kenwrick,S., Levinson,B., Taylor,S., Shapiro,A. and Gitschier,J.
  TITLE     Isolation and sequence of two genes associated with a CpG island 5'
            of the factor VIII gene
  JOURNAL   Hum Mol Genet 1 (3), 179-186 (1992)
   PUBMED   1303175
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP304352.1, X64643.1,
            BX293995.4 and BC002999.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 20, 2020 this sequence version replaced NM_001018055.2.
            
            Summary: This gene encodes a subunit of the BRCA1-BRCA2-containing
            complex (BRCC), which is an E3 ubiquitin ligase. This complex plays
            a role in the DNA damage response, where it is responsible for the
            stable accumulation of BRCA1 at DNA break sites. The component
            encoded by this gene can specifically cleave Lys 63-linked
            polyubiquitin chains, and it regulates the abundance of these
            polyubiquitin chains in chromatin. The loss of this gene results in
            abnormal angiogenesis and is associated with syndromic moyamoya, a
            cerebrovascular angiopathy. Alternative splicing results in
            multiple transcript variants. A related pseudogene has been
            identified on chromosome 5. [provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (2) that is shorter than isoform 1.
            
            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 exon combination :: X64643.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330045.12/ ENSP00000328641.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                BP304352.1         89-102
            15-1756             X64643.1           1-1742
            1757-2751           BX293995.4         66759-67753         c
            2752-2766           BC002999.1         2809-2823
            2767-2769           BX293995.4         66741-66743         c
FEATURES             Location/Qualifiers
     source          1..2769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2769
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /note="BRCA1/BRCA2-containing complex subunit 3"
                     /db_xref="GeneID:79184"
                     /db_xref="HGNC:HGNC:24185"
                     /db_xref="MIM:300617"
     exon            1..143
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..896
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /EC_number="3.1.2.15"
                     /note="isoform 2 is encoded by transcript variant 2;
                     lys-63-specific deubiquitinase BRCC36;
                     BRCA1/BRCA2-containing complex subunit 36; BRISC complex
                     subunit BRCC36; BRCA1-A complex subunit BRCC36"
                     /codon_start=1
                     /product="lys-63-specific deubiquitinase BRCC36 isoform 2"
                     /protein_id="NP_001018065.1"
                     /db_xref="CCDS:CCDS56612.1"
                     /db_xref="GeneID:79184"
                     /db_xref="HGNC:HGNC:24185"
                     /db_xref="MIM:300617"
                     /translation="MAVQVVQAVQAVHLESDAFLVCLNHALSTEKEEVMGLCIGELND
                     DTRSDSKFAYTGTEMRTVAEKVDAVRIVHIHSVIILRRSDKRKDRVEISPEQLSAAST
                     EAERLAELTGRPMRVVGWYHSHPHITVWPSHVDVRTQAMYQMMDQGFVGLIFSCFIED
                     KNTKTGRVLYTCFQSIQAQKSSEYERIEIPIHIVPHVTIGKVCLESAVELPKILCQEE
                     QDAYRRIHSLTHLDSVTKIHNGSVFTKNLCSQMSAVSGPLLQWLEDRLEQNQQHLQEL
                     QQEKEELMQELSSLE"
     exon            144..160
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            161..215
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            216..335
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            336..423
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            424..512
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            513..568
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            569..700
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            701..744
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            745..914
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     exon            915..2769
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2739..2744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /note="hexamer: AATAAA"
     polyA_site      2769
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /note="major polyA site"
ORIGIN      
        1 gtgagaaggg tcgggccaag atggcggtgc aggtggtgca ggcggtgcag gcggttcatc
       61 tcgagtctga cgctttcctc gtttgtctca accacgctct gagcacagag aaggaggaag
      121 taatggggct gtgcataggg gagttgaacg atgatacaag gagtgactcc aaatttgcat
      181 atactggaac tgaaatgcgc acagttgctg aaaaggttga tgccgtcaga attgttcaca
      241 ttcattctgt catcatctta cgacgttctg ataagaggaa ggaccgagta gaaatttctc
      301 cagagcagct gtctgcagct tcaacagagg cagagaggtt ggctgaactg acaggccgcc
      361 ccatgagagt tgtgggctgg tatcattccc atcctcatat aactgtttgg ccttcacatg
      421 ttgatgttcg cacacaagcc atgtaccaga tgatggatca aggctttgta ggacttattt
      481 tttcctgttt catagaagat aagaacacaa agactggccg ggtactctac acttgcttcc
      541 aatccataca ggcccaaaag agttcagagt atgagagaat cgaaatccca atccatattg
      601 tacctcatgt cactatcggg aaagtgtgcc ttgaatcagc agtagagctg cccaagatcc
      661 tgtgccagga ggagcaggat gcgtatagga ggatccacag ccttacacat ctggactcag
      721 taaccaagat ccataatggc tcagtgttta ccaagaatct gtgcagtcag atgtcggcag
      781 tcagcgggcc tctcctacag tggttggagg acagactgga gcaaaaccaa cagcatttgc
      841 aggaattaca acaagaaaag gaagagctta tgcaagaact ttcttctcta gaataaatca
      901 ggagacaaaa tggggaaaga tgaaaatatc cagtgtaaag ttacttaagc taaatcaatt
      961 tcaaagaaga aaaacttgga ggactcattt tacctgactt caagacttac tataaagcta
     1021 tagtaatcaa gatagatggt attggcagag gaacagacac atacgtcaat ggaacagatg
     1081 agagaaccca gaaataaacc catataaata tgctcagctg attttgaaaa agtgaaaaag
     1141 caattcaatg gaggaagaat agcctttctg acaaattatg ctagagcaat tagacaccca
     1201 tggcgaggag aaaaaagaac ctctacttaa acctcacatc ttatataaaa tttaactcaa
     1261 aatgtataac ggacttaaat gtgatacata aaactagata actttgaaaa aagccacagg
     1321 agaaaaatct tcaggatctt gggctaggtg acaagttctt ggactttgcc ccgaaagcac
     1381 atccataaaa gacaaaatct gatatattgg acttcttcaa aatttaaaaa cttgtgattt
     1441 aagaagagga aaagataagc tacagattga gatgaatttg caaaccatat atctgatcaa
     1501 tttggaatat ataaagtgta ctaaaaactc aactgaagtc aggcatggta gctcatgctt
     1561 gtaatctcac cactttggga ggccaagatg ggaggagtgc ttgaggttag gcgttccaga
     1621 ccagcctggg caacatagtg agactcttgt ctctacaaaa agttttttta aaaaattaac
     1681 tgggcaccat gacacacacc agtagtccca gctactaggg aggcaggagg atcacttgag
     1741 cccaggagtt tgaggctgcg gtgagctgtg atcacaccac cacactccaa cctgtgtaac
     1801 agagtgaggc ctcatctcaa aaaaaaaaaa aggccacaaa actcaacaat aaaaacaaac
     1861 agtccaatta gaaaatgggc aaaagacatg aatagatgtt tcactgaaga ggatctatag
     1921 atggcaagta agcatatgaa aagctgttaa actccataag tcatcaggga atgcaaattg
     1981 aaaccacagc gaggctatga cttacttatc tcaatggcta aagaaaaaat agtgaaaata
     2041 ccaaatactg atgaggatac aaactggata ttttatacat tgctgacagg aatgtaaaat
     2101 ggtacagcca ctctgggaaa gagtttatga atttcttatc aagttaaaca taatttttta
     2161 atcaagttaa acataagacc cagcagttgt gctcctggac attcattcca gagaaatgaa
     2221 aacctatatt gtacttgtac tcaaatattc ataggagctt tatttgtaat agccccaaac
     2281 tggaaacaac ccagatgtcc tacaacaggt acatggttaa acaaaccatc cataacttgg
     2341 aatactgctc tggaatgaaa aggaactaac tgttgataca agaacttggt tgtacctcag
     2401 gggtattatg gtgaacaaaa aaaaaaccag tctcaaatgg tcacatactg tatgatcgca
     2461 tttatataac attcttgagg tgacaaaatt attgaaatga agaacagatt aatggttgcc
     2521 agggataggg actggagggg gtgtggggta tgtatgacta taaagggatg acgcaaggag
     2581 ttcctttgtg ctgatggaac agttctatat gattatgatg attacgatgt tgattataac
     2641 atttgattat gaggttaagc acatgagtct ttacctgtgc tgaagttgta tggacctaca
     2701 tacacacaaa tgaatgcatg taaaatctgg tgatactgaa taaagtctgt ggtctagata
     2761 gcagtataa
//
