LOCUS       NM_000465               5478 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens BRCA1 associated RING domain 1 (BARD1), transcript
            variant 1, mRNA.
ACCESSION   NM_000465
VERSION     NM_000465.4
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 5478)
  AUTHORS   Salunkhe,S., Daley,J.M., Kaur,H., Tomimatsu,N., Xue,C., Raina,V.B.,
            Jasper,A.M., Rogers,C.M., Li,W., Zhou,S., Mojidra,R., Kwon,Y.,
            Fang,Q., Ji,J.H., Badamchi Shabestari,A., Fitzgerald,O., Dinh,H.,
            Mukherjee,B., Habib,A.A., Hromas,R., Mazin,A.V., Wasmuth,E.V.,
            Olsen,S.K., Libich,D.S., Zhou,D., Zhao,W., Greene,E.C., Burma,S.
            and Sung,P.
  TITLE     Promotion of DNA end resection by BRCA1-BARD1 in homologous
            recombination
  JOURNAL   Nature 634 (8033), 482-491 (2024)
   PUBMED   39261729
  REMARK    GeneRIF: Promotion of DNA end resection by BRCA1-BARD1 in
            homologous recombination.
REFERENCE   2  (bases 1 to 5478)
  AUTHORS   Ceppi,I., Dello Stritto,M.R., Mutze,M., Braunshier,S., Mengoli,V.,
            Reginato,G., Vo,H.M.P., Jimeno,S., Acharya,A., Roy,M., Sanchez,A.,
            Halder,S., Howard,S.M., Guerois,R., Huertas,P., Noordermeer,S.M.,
            Seidel,R. and Cejka,P.
  TITLE     Mechanism of BRCA1-BARD1 function in DNA end resection and DNA
            protection
  JOURNAL   Nature 634 (8033), 492-500 (2024)
   PUBMED   39261728
  REMARK    GeneRIF: Mechanism of BRCA1-BARD1 function in DNA end resection and
            DNA protection.
REFERENCE   3  (bases 1 to 5478)
  AUTHORS   Novelli,F., Yoshikawa,Y., Vitto,V.A.M., Modesti,L., Minaai,M.,
            Pastorino,S., Emi,M., Kim,J.H., Kricek,F., Bai,F., Onuchic,J.N.,
            Bononi,A., Suarez,J.S., Tanji,M., Favaron,C., Zolondick,A.A.,
            Xu,R., Takanishi,Y., Wang,Z., Sakamoto,G., Gaudino,G., Grzymski,J.,
            Grosso,F., Schrump,D.S., Pass,H.I., Atanesyan,L., Smout,J.,
            Savola,S., Sarin,K.Y., Abolhassani,H., Hammarstrom,L.,
            Pan-Hammarstrom,Q., Giorgi,C., Pinton,P., Yang,H. and Carbone,M.
  TITLE     Germline BARD1 variants predispose to mesothelioma by impairing DNA
            repair and calcium signaling
  JOURNAL   Proc Natl Acad Sci U S A 121 (29), e2405231121 (2024)
   PUBMED   38990952
  REMARK    GeneRIF: Germline BARD1 variants predispose to mesothelioma by
            impairing DNA repair and calcium signaling.
REFERENCE   4  (bases 1 to 5478)
  AUTHORS   Tsukada,K., Jones,S.E., Bannister,J., Durin,M.A., Vendrell,I.,
            Fawkes,M., Fischer,R., Kessler,B.M., Chapman,J.R. and
            Blackford,A.N.
  TITLE     BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint
            DNA molecule resolution
  JOURNAL   Mol Cell 84 (4), 640-658 (2024)
   PUBMED   38266639
  REMARK    GeneRIF: BLM and BRCA1-BARD1 coordinate complementary mechanisms of
            joint DNA molecule resolution.
REFERENCE   5  (bases 1 to 5478)
  AUTHORS   Burdett,H., Foglizzo,M., Musgrove,L.J., Kumar,D., Clifford,G.,
            Campbell,L.J., Heath,G.R., Zeqiraj,E. and Wilson,M.D.
  TITLE     BRCA1-BARD1 combines multiple chromatin recognition modules to
            bridge nascent nucleosomes
  JOURNAL   Nucleic Acids Res 51 (20), 11080-11103 (2023)
   PUBMED   37823591
  REMARK    GeneRIF: BRCA1-BARD1 combines multiple chromatin recognition
            modules to bridge nascent nucleosomes.
REFERENCE   6  (bases 1 to 5478)
  AUTHORS   Meza,J.E., Brzovic,P.S., King,M.C. and Klevit,R.E.
  TITLE     Mapping the functional domains of BRCA1. Interaction of the ring
            finger domains of BRCA1 and BARD1
  JOURNAL   J Biol Chem 274 (9), 5659-5665 (1999)
   PUBMED   10026184
REFERENCE   7  (bases 1 to 5478)
  AUTHORS   Ayi,T.C., Tsan,J.T., Hwang,L.Y., Bowcock,A.M. and Baer,R.
  TITLE     Conservation of function and primary structure in the
            BRCA1-associated RING domain (BARD1) protein
  JOURNAL   Oncogene 17 (16), 2143-2148 (1998)
   PUBMED   9798686
REFERENCE   8  (bases 1 to 5478)
  AUTHORS   Thai,T.H., Du,F., Tsan,J.T., Jin,Y., Phung,A., Spillman,M.A.,
            Massa,H.F., Muller,C.Y., Ashfaq,R., Mathis,J.M., Miller,D.S.,
            Trask,B.J., Baer,R. and Bowcock,A.M.
  TITLE     Mutations in the BRCA1-associated RING domain (BARD1) gene in
            primary breast, ovarian and uterine cancers
  JOURNAL   Hum Mol Genet 7 (2), 195-202 (1998)
   PUBMED   9425226
REFERENCE   9  (bases 1 to 5478)
  AUTHORS   Jin,Y., Xu,X.L., Yang,M.C., Wei,F., Ayi,T.C., Bowcock,A.M. and
            Baer,R.
  TITLE     Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in
            discrete nuclear domains
  JOURNAL   Proc Natl Acad Sci U S A 94 (22), 12075-12080 (1997)
   PUBMED   9342365
REFERENCE   10 (bases 1 to 5478)
  AUTHORS   Wu,L.C., Wang,Z.W., Tsan,J.T., Spillman,M.A., Phung,A., Xu,X.L.,
            Yang,M.C., Hwang,L.Y., Bowcock,A.M. and Baer,R.
  TITLE     Identification of a RING protein that can interact in vivo with the
            BRCA1 gene product
  JOURNAL   Nat Genet 14 (4), 430-440 (1996)
   PUBMED   8944023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB088853.1, BC126428.1,
            BC126426.1, BX098964.1, AC016708.11 and BU753556.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000465.3.
            
            Summary: This gene encodes a protein which interacts with the
            N-terminal region of BRCA1. In addition to its ability to bind
            BRCA1 in vivo and in vitro, it shares homology with the 2 most
            conserved regions of BRCA1: the N-terminal RING motif and the
            C-terminal BRCT domain. The RING motif is a cysteine-rich sequence
            found in a variety of proteins that regulate cell growth, including
            the products of tumor suppressor genes and dominant protooncogenes.
            This protein also contains 3 tandem ankyrin repeats. The
            BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid
            substitutions in BRCA1, implying that the formation of a stable
            complex between these proteins may be an essential aspect of BRCA1
            tumor suppression. This protein may be the target of oncogenic
            mutations in breast or ovarian cancer. Multiple alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            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 :: SRR14038195.2752190.1,
                                           SRR14038196.2213370.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260947.9/ ENSP00000260947.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-516               DB088853.1         30-545
            517-1247            BC126428.1         473-1203
            1248-1631           BC126426.1         1204-1587
            1632-2251           BX098964.1         42-661
            2252-5438           AC016708.11        32534-35720         c
            5439-5478           BU753556.1         18-57               c
FEATURES             Location/Qualifiers
     source          1..5478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..5478
                     /gene="BARD1"
                     /note="BRCA1 associated RING domain 1"
                     /db_xref="GeneID:580"
                     /db_xref="HGNC:HGNC:952"
                     /db_xref="MIM:601593"
     exon            1..272
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..2448
                     /gene="BARD1"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BRCA1-associated RING domain protein 1; BRCA1-associated
                     RING domain gene 1; RING-type E3 ubiquitin transferase
                     BARD1"
                     /codon_start=1
                     /product="BRCA1-associated RING domain protein 1 isoform
                     1"
                     /protein_id="NP_000456.2"
                     /db_xref="CCDS:CCDS2397.1"
                     /db_xref="GeneID:580"
                     /db_xref="HGNC:HGNC:952"
                     /db_xref="MIM:601593"
                     /translation="MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRL
                     EKLLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLD
                     SMIQLCSKLRNLLHDNELSDLKEDKPRKSLFNDAGNKKNSIKMWFSPRSKKVRYVVSK
                     ASVQTQPAIKKDASAQQDSYEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKW
                     NLEAEKEDGEFDSKEESKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLT
                     EVSLPLAEQIESPDTKSRNEVVTPEKVCKNYLTSKKSLPLENNGKRGHHNRLSSPISK
                     RCRTSILSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGTSGRKNSNMSDEFISLSP
                     GTPPSTLSSSSYRRVMSSPSAMKLLPNMAVKRNHRGETLLHIASIKGDIPSVEYLLQN
                     GSDPNVKDHAGWTPLHEACNHGHLKVVELLLQHKALVNTTGYQNDSPLHDAAKNGHVD
                     IVKLLLSYGASRNAVNIFGLRPVDYTDDESMKSLLLLPEKNESSSASHCSVMNTGQRR
                     DGPLVLIGSGLSSEQQKMLSELAVILKAKKYTEFDSTVTHVVVPGDAVQSTLKCMLGI
                     LNGCWILKFEWVKACLRRKVCEQEEKYEIPEGPRRSRLNREQLLPKLFDGCYFYLWGT
                     FKHHPKDNLIKLVTAGGGQILSRKPKPDSDVTQTINTVAYHARPDSDQRFCTQYIIYE
                     DLCNYHPERVRQGKVWKAPSSWFIDCVMSFELLPLDS"
     exon            273..329
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            330..478
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            479..1428
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1509
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1682
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1791
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1924
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2017
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2115
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2116..5478
                     /gene="BARD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4471..4476
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BARD1"
                     /note="hexamer: ATTAAA"
     polyA_site      4494
                     /gene="BARD1"
                     /note="major polyA site"
     regulatory      4622..4627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BARD1"
                     /note="hexamer: AATAAA"
     polyA_site      4644
                     /gene="BARD1"
ORIGIN      
        1 agacgcggga agagcttggc cggtttcgag tcgctggcct gcagcttccc tgtggtttcc
       61 cgaggcttcc ttgcttcccg ctctgcgagg agcctttcat ccgaaggcgg gacgatgccg
      121 gataatcggc agccgaggaa ccggcagccg aggatccgct ccgggaacga gcctcgttcc
      181 gcgcccgcca tggaaccgga tggtcgcggt gcctgggccc acagtcgcgc cgcgctcgac
      241 cgcctggaga agctgctgcg ctgctcgcgt tgtactaaca ttctgagaga gcctgtgtgt
      301 ttaggaggat gtgagcacat cttctgtagt aattgtgtaa gtgactgcat tggaactgga
      361 tgtccagtgt gttacacccc ggcctggata caagacttga agataaatag acaactggac
      421 agcatgattc aactttgtag taagcttcga aatttgctac atgacaatga gctgtcagat
      481 ttgaaagaag ataaacctag gaaaagtttg tttaatgatg caggaaacaa gaagaattca
      541 attaaaatgt ggtttagccc tcgaagtaag aaagtcagat atgttgtgag taaagcttca
      601 gtgcaaaccc agcctgcaat aaaaaaagat gcaagtgctc agcaagactc atatgaattt
      661 gtttccccaa gtcctcctgc agatgtttct gagagggcta aaaaggcttc tgcaagatct
      721 ggaaaaaagc aaaaaaagaa aactttagct gaaatcaacc aaaaatggaa tttagaggca
      781 gaaaaagaag atggtgaatt tgactccaaa gaggaatcta agcaaaagct ggtatccttc
      841 tgtagccaac catctgttat ctccagtcct cagataaatg gtgaaataga cttactagca
      901 agtggctcct tgacagaatc tgaatgtttt ggaagtttaa ctgaagtctc tttaccattg
      961 gctgagcaaa tagagtctcc agacactaag agcaggaatg aagtagtgac tcctgagaag
     1021 gtctgcaaaa attatcttac atctaagaaa tctttgccat tagaaaataa tggaaaacgt
     1081 ggccatcaca atagactttc cagtcccatt tctaagagat gtagaaccag cattctgagc
     1141 accagtggag attttgttaa gcaaacggtg ccctcagaaa atataccatt gcctgaatgt
     1201 tcttcaccac cttcatgcaa acgtaaagtt ggtggtacat cagggaggaa aaacagtaac
     1261 atgtccgatg aattcattag tctttcacca ggtacaccac cttctacatt aagtagttca
     1321 agttacaggc gagtgatgtc tagtccctca gcaatgaagc tgttgcccaa tatggctgtg
     1381 aaaagaaatc atagaggaga gactttgctc catattgctt ctattaaggg cgacatacct
     1441 tctgttgaat accttttaca aaatggaagt gatccaaatg ttaaagacca tgctggatgg
     1501 acaccattgc atgaagcttg caatcatggg cacctgaagg tagtggaatt attgctccag
     1561 cataaggcat tggtgaacac caccgggtat caaaatgact caccacttca cgatgcagcc
     1621 aagaatgggc atgtggatat agtcaagctg ttactttcct atggagcctc cagaaatgct
     1681 gttaatatat ttggtctgcg gcctgtcgat tatacagatg atgaaagtat gaaatcgcta
     1741 ttgctgctac cagagaagaa tgaatcatcc tcagctagcc actgctcagt aatgaacact
     1801 gggcagcgta gggatggacc tcttgtactt ataggcagtg ggctgtcttc agaacaacag
     1861 aaaatgctca gtgagcttgc agtaattctt aaggctaaaa aatatactga gtttgacagt
     1921 acagtaactc atgttgttgt tcctggtgat gcagttcaaa gtaccttgaa gtgtatgctt
     1981 gggattctca atggatgctg gattctaaaa tttgaatggg taaaagcatg tctacgaaga
     2041 aaagtatgtg aacaggaaga aaagtatgaa attcctgaag gtccacgcag aagcaggctc
     2101 aacagagaac agctgttgcc aaagctgttt gatggatgct acttctattt gtggggaacc
     2161 ttcaaacacc atccaaagga caaccttatt aagctcgtca ctgcaggtgg gggccagatc
     2221 ctcagtagaa agcccaagcc agacagtgac gtgactcaga ccatcaatac agtcgcatac
     2281 catgcgagac ccgattctga tcagcgcttc tgcacacagt atatcatcta tgaagatttg
     2341 tgtaattatc acccagagag ggttcggcag ggcaaagtct ggaaggctcc ttcgagctgg
     2401 tttatagact gtgtgatgtc ctttgagttg cttcctcttg acagctgaat attataccag
     2461 atgaacattt caaattgaat ttgcacggtt tgtgagagcc cagtcattgt actgttttta
     2521 atgttcacat ttttacaaat aggtagagtc attcatattt gtctttgaat caaaaaaaaa
     2581 aaaaaagtct aatgccagat taggaattca tgttatgttt accatttaga agctgggatt
     2641 gcttttaaag gtttttcttt ttaaaattgg catgtttttg atttatcatg tctttctatt
     2701 cagattattg ggtatcaaag attaatgagg acaccagaat cttggttaaa tagacaagtg
     2761 gtatcattac tgtttgagtc ttttaatatt ctccatacct gccaccagtg aaaaaacttg
     2821 cctttttttt tttttttttt ttagtaaaca gaatattatc aaacaattta ttttggcttt
     2881 attgaaaaaa gagtatttgg tctaaatgtg ccaccatagg tgttaaattc tcctatctgc
     2941 aattgtcttt atcctatatt gtgttcattt cttttcttaa taatttactt tgttgtgtgt
     3001 ttctacactt tcatccctgt tttttatctt gtatatcatc aggaaattgt gatttaatca
     3061 ttaacattgg tttttttgtg tgtgtggtaa aaatcaacac taggctcatg gtacatattt
     3121 ttattctgta catttgcttg taactatcaa tttgtaactc tgtttatcta ctacatgtgt
     3181 atatatactt agagcatttt ctctaacaca ttttaatgtt agtatttttt aaaaggtctg
     3241 accagtctag caaattgtca gtccaacgtc attactttaa attaagaagc agtcttcttc
     3301 tggtaaacct tgttggtatt tgtaaaataa ttttgaaggt cttaatttct tcctttgtaa
     3361 aaggaaaagg ttttttttaa agtttttagg ttggcatgga ggcagaagtt ggtgattact
     3421 tgatttacaa cagatttttt ccagatcata caaaaggcca tacagtaagt atagaagtag
     3481 gtatggggag ggcttactaa tatcaaatag gcaaggcctt agtgagtggg caggatacca
     3541 cctgagagtg gccagatgtg gggaggttac tctgctctgg gtgctctcat tcatgaatcg
     3601 acaaggatac attagattat tttgaaacat ttttttaaga agcagaattc tttaataatt
     3661 ccttcctaga cattgaatat acttataaaa ttaaagactt ggggaaggag acactgagag
     3721 acttgccagt ttggttcctc atgaacaaaa gaggacagtt tgataactac cagaatagaa
     3781 tatccctagt tttaaaatag tgagaatctc tgaagttcat caacatctta agatgcactt
     3841 acttgaaagt ttgagattct gtttatcatt tgaaaacaca ttttgcttta attctttctt
     3901 tgacatgttg ttttttcata tcaagaaata tatgaacaaa ataataacct tttgaccctg
     3961 accttgctgg gtgaattagc tctgaaacac tctctacaac cagtaatgca tttgtcccac
     4021 atttcattct gatagaaaat gaacaccata gcaccaaaca aaaatccgag gcgttagata
     4081 atgtctggat taaataattt aagactctct aggattttgg ttgtcatttt ttatttataa
     4141 cagactttaa gtcactttct gttgcctcat aggtcacatt ttagacaggt ttgtgtctgt
     4201 tccttgcatc tgaattcctg attgtaaaga cacctatgag gtctcttagt ttttgtcatt
     4261 cattttcttg gtttatcacc cctcccttct ttttgttgtt tttccctgac tgttaagcag
     4321 tttcatcttt gcttttgtta aatatttgac agcagttagt ttgtgttaag ctcttgaaac
     4381 ttgtgattgt actttctgtg tagatataca tgtaattatt ttttattttt caatcataga
     4441 ttcaagcttc cttctttttt accacaaatc attaaagtta tttgtgtttc catatacctg
     4501 tgtcttgtat aaaattggct tattctgtgc tgttgaatga ggctcaacat gacttggtga
     4561 ggaagtctat taactaacaa aagcttatct tttttaacat aatgcttttt aattaatttt
     4621 gaataaaaat atttctaaag tgtactagat actttattac cttagattat tccgaataca
     4681 gtataacttt gatagtttgg aatagtcatt aagaaacaat tacacactga ttgctttgtg
     4741 tctctaaaag tgagaggctg gtagcttttc cacattctca tggctatttt ctagttctac
     4801 ttgaatttat aactgtttcc ctttttcctt gacagctgcc actttgtagc tatttttctg
     4861 tctctgctaa tactttacca tatctatctc aattgttttt tcttttgact tgctgaaaaa
     4921 tagaaaccag atgggaagta tattagcatt atgattgaaa taagggtaaa tgagcaatgt
     4981 gtgaaggttt tcactgactt cacctaaaag atagtttagc tacttgaatt ttagtaaata
     5041 gaatttttcc tttatttcat cggtcccccc accttttttt ttttttgcac ctgccttgta
     5101 aatttaatag ttaagtgacc tctgcctaga ggatgatatt tggggaggtt tgatgtttcc
     5161 tgtgggaata agacgattca caggtgagag tggggccaca ttagctgtta ttgtttccat
     5221 gggtcagtgt ggaaaatgca ttaatcatat tctaaacgtt catgggcctc attacagtca
     5281 caattgtcta ttctgtttcc taccctgaac acattaaaat ggtaggaact aatgcttgtc
     5341 ttatttaatt actaaaagcc accattttct ttgatagatt gagctacaga ttgtaaactt
     5401 catgtatttc tttataagtc aacccttttc aaagatacgc acatcaaact gaatgaataa
     5461 ataaatattg agaagttg
//
