LOCUS       NM_014173               1377 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1),
            transcript variant 2, mRNA.
ACCESSION   NM_014173
VERSION     NM_014173.4
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 1377)
  AUTHORS   Taouis,K., Vacher,S., Guirouilh-Barbat,J., Camonis,J.,
            Formstecher,E., Popova,T., Hamy,A.S., Petitalot,A., Lidereau,R.,
            Caputo,S.M., Zinn-Justin,S., Bieche,I., Driouch,K. and Lallemand,F.
  TITLE     WWOX binds MERIT40 and modulates its function in homologous
            recombination, implications in breast cancer
  JOURNAL   Cancer Gene Ther 30 (8), 1144-1155 (2023)
   PUBMED   37248434
  REMARK    GeneRIF: WWOX binds MERIT40 and modulates its function in
            homologous recombination, implications in breast cancer.
REFERENCE   2  (bases 1 to 1377)
  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   3  (bases 1 to 1377)
  AUTHORS   Kalpongnukul,N., Bootsri,R., Wongkongkathep,P., Kaewsapsak,P.,
            Ariyachet,C., Pisitkun,T. and Chantaravisoot,N.
  TITLE     Phosphoproteomic Analysis Defines BABAM1 as mTORC2 Downstream
            Effector Promoting DNA Damage Response in Glioblastoma Cells
  JOURNAL   J Proteome Res 21 (12), 2893-2904 (2022)
   PUBMED   36315652
  REMARK    GeneRIF: Phosphoproteomic Analysis Defines BABAM1 as mTORC2
            Downstream Effector Promoting DNA Damage Response in Glioblastoma
            Cells.
REFERENCE   4  (bases 1 to 1377)
  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   5  (bases 1 to 1377)
  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   6  (bases 1 to 1377)
  AUTHORS   Solyom,S., Patterson-Fortin,J., Pylkas,K., Greenberg,R.A. and
            Winqvist,R.
  TITLE     Mutation screening of the MERIT40 gene encoding a novel BRCA1 and
            RAP80 interacting protein in breast cancer families
  JOURNAL   Breast Cancer Res Treat 120 (1), 165-168 (2010)
   PUBMED   19572197
  REMARK    GeneRIF: germline mutations in MERIT40 are rare or absent in
            familial breast cancer patients.
REFERENCE   7  (bases 1 to 1377)
  AUTHORS   Cooper,E.M., Cutcliffe,C., Kristiansen,T.Z., Pandey,A.,
            Pickart,C.M. and Cohen,R.E.
  TITLE     K63-specific deubiquitination by two JAMM/MPN+ complexes:
            BRISC-associated Brcc36 and proteasomal Poh1
  JOURNAL   EMBO J 28 (6), 621-631 (2009)
   PUBMED   19214193
REFERENCE   8  (bases 1 to 1377)
  AUTHORS   Wang,B., Hurov,K., Hofmann,K. and Elledge,S.J.
  TITLE     NBA1, a new player in the Brca1 A complex, is required for DNA
            damage resistance and checkpoint control
  JOURNAL   Genes Dev 23 (6), 729-739 (2009)
   PUBMED   19261749
  REMARK    GeneRIF: NBA1 is required to maintain BRE and Abra1 abundance and
            for the recruitment of BRCA1 to sites of DNA damage. In depth
            bioinformatics analysis revealed that the BRCA1 A complex bears
            striking similarities to the 19S proteasome complex.
REFERENCE   9  (bases 1 to 1377)
  AUTHORS   Feng,L., Huang,J. and Chen,J.
  TITLE     MERIT40 facilitates BRCA1 localization and DNA damage repair
  JOURNAL   Genes Dev 23 (6), 719-728 (2009)
   PUBMED   19261748
  REMARK    GeneRIF: A stable complex containing MERIT40 acts early in DNA
            damage response and regulates damage-dependent BRCA1 localization.
REFERENCE   10 (bases 1 to 1377)
  AUTHORS   Shao,G., Patterson-Fortin,J., Messick,T.E., Feng,D., Shanbhag,N.,
            Wang,Y. and Greenberg,R.A.
  TITLE     MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to
            DNA double-strand breaks
  JOURNAL   Genes Dev 23 (6), 740-754 (2009)
   PUBMED   19261746
  REMARK    GeneRIF: MERIT40 represents a novel factor that links BRCA1-Rap80
            complex integrity, DSB recognition, and ubiquitin chain hydrolytic
            activities to the DNA damage response.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP246573.1, BC000788.2 and BC091491.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014173.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2 and 3 encode the same 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 :: AK025970.1, BC006244.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000598188.6/ ENSP00000471605.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BP246573.1         68-101
            35-934              BC000788.2         1-900
            935-1377            BC091491.1         948-1390
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1377
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /note="BRISC and BRCA1 A complex member 1"
                     /db_xref="GeneID:29086"
                     /db_xref="HGNC:HGNC:25008"
                     /db_xref="MIM:612766"
     exon            1..85
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            86..383
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1088
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /note="isoform 1 is encoded by transcript variant 2; new
                     component of the BRCAA1 A complex; BRCA1-A complex subunit
                     MERIT40; mediator of Rap80 interactions and targeting 40
                     kDa; new component of the BRCA1-A complex; mediator of
                     RAP80 interactions and targeting subunit of 40 kDa"
                     /codon_start=1
                     /product="BRISC and BRCA1-A complex member 1 isoform 1"
                     /protein_id="NP_054892.2"
                     /db_xref="CCDS:CCDS46012.1"
                     /db_xref="GeneID:29086"
                     /db_xref="HGNC:HGNC:25008"
                     /db_xref="MIM:612766"
                     /translation="MEVAEPSSPTEEEEEEEEHSAEPRPRTRSNPEGAEDRAVGAQAS
                     VGSRSEGEGEAASADDGSLNTSGAGPKSWQVPPPAPEVQIRTPRVNCPEKVIICLDLS
                     EEMSLPKLESFNGSKTNALNVSQKMIEMFVRTKHKIDKSHEFALVVVNDDTAWLSGLT
                     SDPRELCSCLYDLETASCSTFNLEGLFSLIQQKTELPVTENVQTIPPPYVVRTILVYS
                     RPPCQPQFSLTEPMKKMFQCPYFFFDVVYIHNGTEEKEEEMSWKDMFAFMGSLDTKGT
                     SYKYEVALAGPALELHNCMAKLLAHPLQRPCQSHASYSLLEEEDEAIEVEATV"
     exon            384..442
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            443..563
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            564..642
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            643..667
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            668..797
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..884
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1377
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1355..1360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /note="hexamer: AATAAA"
     polyA_site      1377
                     /gene="BABAM1"
                     /gene_synonym="C19orf62; HSPC142; MERIT40; NBA1"
                     /note="major polyA site"
ORIGIN      
        1 gtacaacttc cggctgtaaa gatggcggct tcctagtgag tcggcggctg atttagaagg
       61 aggttcaggc tacggtgagc cgaagccaca caggagccat ggaagtggca gagcccagca
      121 gccccactga agaggaggag gaggaagagg agcactcggc agagcctcgg ccccgcactc
      181 gctccaatcc tgaaggggct gaggaccggg cagtaggggc acaggccagc gtgggcagcc
      241 gcagcgaggg tgagggtgag gccgccagtg ctgatgatgg gagcctcaac acttcaggag
      301 ccggccctaa gtcctggcag gtgcccccgc cagcccctga ggtccaaatt cggacaccaa
      361 gggtcaactg tccagagaaa gtgattatct gcctggacct gtcagaggaa atgtcactgc
      421 caaagctgga gtcgttcaac ggctccaaaa ccaacgccct caatgtctcc cagaagatga
      481 ttgagatgtt cgtgcggaca aaacacaaga tcgacaaaag ccacgagttt gcactggtgg
      541 tggtgaacga tgacacggcc tggctgtctg gcctgacctc cgacccccgc gagctctgta
      601 gctgcctcta tgatctggag acggcctcct gttccacctt caatctggaa ggacttttca
      661 gcctcatcca gcagaaaact gagcttccgg tcacagagaa cgtgcagacg attcccccgc
      721 catatgtggt ccgcaccatc cttgtctaca gccgtccacc ttgccagccc cagttctcct
      781 tgacggagcc catgaagaaa atgttccagt gcccatattt cttctttgac gttgtttaca
      841 tccacaatgg cactgaggag aaggaggagg agatgagttg gaaggatatg tttgccttca
      901 tgggcagcct ggataccaag ggtaccagct acaagtatga ggtggcactg gctgggccag
      961 ccctggagtt gcacaactgc atggcgaaac tgttggccca ccccctgcag cggccttgcc
     1021 agagccatgc ttcctacagc ctgctggagg aggaggatga agccattgag gttgaggcca
     1081 ctgtctgaac catccctgta catctgcacc ttcttgtgca aggaagtcct tggcctaaag
     1141 ccttggttct caaactgggt tccttgggac ctccggggtg ggggggttcc aggaggcacg
     1201 tagggtacct tgcagggtcc taggagggaa acccaggatt ccaggaggga tcccaggaac
     1261 tgtgggcacc cattttctgt gtctcccagc ccatttccac tcctagtttg tcatggataa
     1321 tttttgttct tccctgtgtg atttttgcca tcaaaataaa aatttgagac tcgttaa
//
