LOCUS       NM_199191               1678 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens BRISC and BRCA1 A complex member 2 (BABAM2),
            transcript variant 3, mRNA.
ACCESSION   NM_199191
VERSION     NM_199191.3
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 1678)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1678)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1678)
  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 1678)
  AUTHORS   Pinto,R., Assis,J., Nogueira,A., Pereira,C., Coelho,S., Brandao,M.,
            Dias,J., Alves,S., Pereira,D. and Medeiros,R.
  TITLE     Pharmacogenomics in epithelial ovarian cancer first-line treatment
            outcome: validation of GWAS-associated NRG3 rs1649942 and BRE
            rs7572644 variants in an independent cohort
  JOURNAL   Pharmacogenomics J 19 (1), 25-32 (2019)
   PUBMED   30287910
  REMARK    GeneRIF: The BRE rs7572644 and NRG3 rs1649942 genetic variants were
            validated in an independent cohort of EOC Portuguese patients.
REFERENCE   5  (bases 1 to 1678)
  AUTHORS   Chan,B.C., Ching,A.K., To,K.F., Leung,J.C., Chen,S., Li,Q.,
            Lai,P.B., Tang,N.L., Shaw,P.C., Chan,J.Y., James,A.E., Lai,K.N.,
            Lim,P.L., Lee,K.K. and Chui,Y.L.
  TITLE     BRE is an antiapoptotic protein in vivo and overexpressed in human
            hepatocellular carcinoma
  JOURNAL   Oncogene 27 (9), 1208-1217 (2008)
   PUBMED   17704801
  REMARK    GeneRIF: Antiapoptotic in vivo; Bre levels are regulated
            post-transcriptionally in the liver, which is not observed in human
            hepatocellular carcinoma (HCC) and non-HCC cell lines.
REFERENCE   6  (bases 1 to 1678)
  AUTHORS   Dong,Y., Hakimi,M.A., Chen,X., Kumaraswamy,E., Cooch,N.S.,
            Godwin,A.K. and Shiekhattar,R.
  TITLE     Regulation of BRCC, a holoenzyme complex containing BRCA1 and
            BRCA2, by a signalosome-like subunit and its role in DNA repair
  JOURNAL   Mol Cell 12 (5), 1087-1099 (2003)
   PUBMED   14636569
REFERENCE   7  (bases 1 to 1678)
  AUTHORS   Ching,A.K., Li,P.S., Li,Q., Chan,B.C., Chan,J.Y., Lim,P.L.,
            Pang,J.C. and Chui,Y.L.
  TITLE     Expression of human BRE in multiple isoforms
  JOURNAL   Biochem Biophys Res Commun 288 (3), 535-545 (2001)
   PUBMED   11676476
REFERENCE   8  (bases 1 to 1678)
  AUTHORS   Miao,J., Panesar,N.S., Chan,K.T., Lai,F.M., Xia,N., Wang,Y.,
            Johnson,P.J. and Chan,J.Y.
  TITLE     Differential expression of a stress-modulating gene, BRE, in the
            adrenal gland, in adrenal neoplasia, and in abnormal adrenal
            tissues
  JOURNAL   J Histochem Cytochem 49 (4), 491-500 (2001)
   PUBMED   11259452
REFERENCE   9  (bases 1 to 1678)
  AUTHORS   Gu,C., Castellino,A., Chan,J.Y. and Chao,M.V.
  TITLE     BRE: a modulator of TNF-alpha action
  JOURNAL   FASEB J 12 (12), 1101-1108 (1998)
   PUBMED   9737713
REFERENCE   10 (bases 1 to 1678)
  AUTHORS   Li,L., Yoo,H., Becker,F.F., Ali-Osman,F. and Chan,J.Y.
  TITLE     Identification of a brain- and reproductive-organs-specific gene
            responsive to DNA damage and retinoic acid
  JOURNAL   Biochem Biophys Res Commun 206 (2), 764-774 (1995)
   PUBMED   7826398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021171.6, AK291086.1 and
            BC001251.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_199191.2.
            
            Summary: This gene encodes an anti-apoptotic, death
            receptor-associated protein that interacts with tumor necrosis
            factor-receptor-1. The encoded protein acts as an adapter in
            several protein complexes, including the BRCA1-A complex and the
            BRISC complex. The BRCA1-A complex possesses ubiquitinase activity
            and targets sites of double strand DNA breaks, while the BRISC
            complex exhibits deubiquitinase activity and is involved in mitotic
            spindle assembly. This gene is upregulated in several types of
            cancer. [provided by RefSeq, Jun 2016].
            
            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 :: AF015767.1, AK291086.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379624.6/ ENSP00000368945.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC021171.6         30172-30181
            11-711              AK291086.1         1-701
            712-1678            BC001251.1         596-1562
FEATURES             Location/Qualifiers
     source          1..1678
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.2"
     gene            1..1678
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /note="BRISC and BRCA1 A complex member 2"
                     /db_xref="GeneID:9577"
                     /db_xref="HGNC:HGNC:1106"
                     /db_xref="MIM:610497"
     exon            1..114
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            115..266
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..1290
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /note="isoform 2 is encoded by transcript variant 3;
                     BRCA1/BRCA2-containing complex, subunit 4; BRCA1-A complex
                     subunit BRE; brain and reproductive organ-expressed
                     (TNFRSF1A modulator); BRCA1/BRCA2-containing complex
                     subunit 45; brain and reproductive organ-expressed
                     protein"
                     /codon_start=1
                     /product="BRISC and BRCA1-A complex member 2 isoform 2"
                     /protein_id="NP_954661.1"
                     /db_xref="CCDS:CCDS1763.1"
                     /db_xref="GeneID:9577"
                     /db_xref="HGNC:HGNC:1106"
                     /db_xref="MIM:610497"
                     /translation="MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGC
                     TSLTPGPNCDRFKLHIPYAGETLKWDIIFNAQYPELPPDFIFGEDAEFLPDPSALQNL
                     ASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAG
                     KKNNWTGEFSARFLLKLPVDFSNIPTYLLKDVNEDPGEDVALLSVSFEDTEATQVYPK
                     LYLSPRIEHALGGSSALHIPAFPGGGCLIDYVPQVCHLLTNKVQYVIQGYHKRREYIA
                     AFLSHFGTGVVEYDAEGFTKLTLLLMWKDFCFLVHIDLPLFFPRDQPTLTFQSVYHFT
                     NSGQLYSQAQKNYPYSPRWDGNEMAKRAKAYFKTFVPQFQEAAFANGKL"
     exon            267..343
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            344..438
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            439..633
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            634..708
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            709..818
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            819..918
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            919..989
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1072
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1226
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1678
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1647..1652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /note="hexamer: ATTAAA"
     polyA_site      1678
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /note="major polyA site"
ORIGIN      
        1 gagtgcgcac gcatcctgcc cgcggcgcgc gcgcaggtcg gtgcgtctgt cgggggcgcg
       61 ctcgggtacc tgtaccccac gtagtcgccg gttaccgatc ggactaagtt ccagtggtga
      121 tttacaagtc aagttaaaat gtccccagaa gtggccttga accgaatatc tccaatgctc
      181 tcccctttca tatctagcgt ggtccggaat ggaaaagtgg gactggatgc tacaaactgt
      241 ttgaggataa ctgacttaaa atctggctgc acatcattga ctcctgggcc caactgtgac
      301 cgatttaaac tgcacatacc atatgctgga gagacattaa agtgggatat cattttcaat
      361 gcccaatacc cagaactgcc tcccgatttt atctttggag aagatgctga attcctgcca
      421 gacccctcag ctttgcagaa tcttgcctcc tggaatcctt caaatcctga atgtctctta
      481 cttgtggtga aggaacttgt gcaacaatat caccaattcc aatgtagccg cctccgggag
      541 agctcccgcc tcatgtttga ataccagaca ttactggagg agccacagta tggagagaac
      601 atggaaattt atgctgggaa aaaaaacaac tggactggtg aattttcagc tcgtttcctt
      661 ttgaagctgc ccgtagattt cagcaatatc cccacatacc ttctcaagga tgtaaatgaa
      721 gaccctggag aagatgtggc cctcctctct gttagttttg aggacactga agccacccag
      781 gtgtacccca agctgtactt gtcacctcga attgagcatg cacttggagg ctcctcagct
      841 cttcatatcc cagcttttcc aggaggagga tgtctcattg attacgttcc tcaagtatgc
      901 cacctgctca ccaacaaggt gcagtacgtg attcaagggt atcacaaaag aagagagtat
      961 attgctgctt ttctcagtca ctttggcaca ggtgtcgtgg aatatgatgc agaaggcttt
     1021 acaaaactca ctctgctgct gatgtggaaa gatttttgtt ttcttgtaca cattgacctg
     1081 cctctgtttt tccctcgaga ccagccaact ctcacatttc agtccgttta tcactttacc
     1141 aacagtggac agctttactc ccaggcccaa aaaaattatc cgtacagccc cagatgggat
     1201 ggaaatgaaa tggccaaaag agcaaaggct tatttcaaaa cctttgtccc tcagttccag
     1261 gaggcagcat ttgccaatgg aaagctctag gaaacaccag tcttgagagg tggccagcca
     1321 gactgcctgt ccacatgcgt gtcagcacat acagccgctt cctggaagcc gcctggaatg
     1381 tcttcacggc agcgttttgc tcacacagca gcttttgcac gccccaggca gccccgactg
     1441 ctgaaatcca acttgagctg gctggtggtc cctggatcct agagcccttc acttcgggtt
     1501 actccctctt tcttgcctct atttcttagt tggaagaaat aaactcacaa attatggtgc
     1561 agtaattttc cggggaaagt aaagcctcag gaatgcccac gcctttcttc caaagccttt
     1621 gtctctgaga cctcttaagt tctaagatta aatgcccctc gctgttcttc ctctgaaa
//
