LOCUS       NM_152743               2779 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens BRCA1 associated ATM activator 1 (BRAT1), transcript
            variant 2, mRNA.
ACCESSION   NM_152743
VERSION     NM_152743.4
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 2779)
  AUTHORS   Lin,M.H., Jensen,M.K., Elrod,N.D., Chu,H.F., Haseley,M., Beam,A.C.,
            Huang,K.L., Chiang,W., Russell,W.K., Williams,K., Proschel,C.,
            Wagner,E.J. and Tong,L.
  TITLE     Cytoplasmic binding partners of the Integrator endonuclease INTS11
            and its paralog CPSF73 are required for their nuclear function
  JOURNAL   Mol Cell 84 (15), 2900-2917 (2024)
   PUBMED   39032490
REFERENCE   2  (bases 1 to 2779)
  AUTHORS   Dokaneheifard,S., Gomes Dos Santos,H., Guiselle Valencia,M.,
            Arigela,H., Edupuganti,R.R. and Shiekhattar,R.
  TITLE     Neuronal differentiation requires BRAT1 complex to remove REST from
            chromatin
  JOURNAL   Proc Natl Acad Sci U S A 121 (23), e2318740121 (2024)
   PUBMED   38805275
  REMARK    GeneRIF: Neuronal differentiation requires BRAT1 complex to remove
            REST from chromatin.
REFERENCE   3  (bases 1 to 2779)
  AUTHORS   Engel,C., Valence,S., Delplancq,G., Maroofian,R., Accogli,A.,
            Agolini,E., Alkuraya,F.S., Baglioni,V., Bagnasco,I.,
            Becmeur-Lefebvre,M., Bertini,E., Borggraefe,I.,
            Brischoux-Boucher,E., Bruel,A.L., Brusco,A., Bubshait,D.K.,
            Cabrol,C., Cilio,M.R., Cornet,M.C., Coubes,C., Danhaive,O.,
            Delague,V., Denomme-Pichon,A.S., Di Giacomo,M.C., Doco-Fenzy,M.,
            Engels,H., Cremer,K., Gerard,M., Gleeson,J.G., Heron,D.,
            Goffeney,J., Guimier,A., Harms,F.L., Houlden,H., Iacomino,M.,
            Kaiyrzhanov,R., Kamien,B., Karimiani,E.G., Kraus,D., Kuentz,P.,
            Kutsche,K., Lederer,D., Massingham,L., Mignot,C.,
            Morris-Rosendahl,D., Nagarajan,L., Odent,S., Ormieres,C.,
            Partlow,J.N., Pasquier,L., Penney,L., Philippe,C., Piccolo,G.,
            Poulton,C., Putoux,A., Rio,M., Rougeot,C., Salpietro,V.,
            Scheffer,I., Schneider,A., Srivastava,S., Straussberg,R.,
            Striano,P., Valente,E.M., Venot,P., Villard,L., Vitobello,A.,
            Wagner,J., Wagner,M., Zaki,M.S., Zara,F., Lesca,G., Yassaee,V.R.,
            Miryounesi,M., Hashemi-Gorji,F., Beiraghi,M., Ashrafzadeh,F.,
            Galehdari,H., Walsh,C., Novelli,A., Tacke,M., Sadykova,D.,
            Maidyrov,Y., Koneev,K., Shashkin,C., Capra,V., Zamani,M., Van
            Maldergem,L., Burglen,L. and Piard,J.
  TITLE     BRAT1-related disorders: phenotypic spectrum and phenotype-genotype
            correlations from 97 patients
  JOURNAL   Eur J Hum Genet 31 (9), 1023-1031 (2023)
   PUBMED   37344571
  REMARK    GeneRIF: BRAT1-related disorders: phenotypic spectrum and
            phenotype-genotype correlations from 97 patients.
REFERENCE   4  (bases 1 to 2779)
  AUTHORS   Carapancea,E., Cornet,M.C., Milh,M., De Cosmo,L., Huang,E.J.,
            Granata,T., Striano,P., Ceulemans,B., Stein,A.,
            Morris-Rosendahl,D., Conti,G., Mitra,N., Raymond,F.L.,
            Rowitch,D.H., Solazzi,R., Vercellino,F., De Liso,P., D'Onofrio,G.,
            Boniver,C., Danhaive,O., Carkeek,K., Salpietro,V., Weckhuysen,S.,
            Fedrigo,M., Angelini,A., Castellotti,B., Lederer,D., Benoit,V.,
            Raviglione,F., Guerrini,R., Dilena,R. and Cilio,M.R.
  TITLE     Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1
            Encephalopathy
  JOURNAL   Neurology 100 (12), e1234-e1247 (2023)
   PUBMED   36599696
  REMARK    GeneRIF: Clinical and Neurophysiologic Phenotypes in Neonates With
            BRAT1 Encephalopathy.
REFERENCE   5  (bases 1 to 2779)
  AUTHORS   Li,S., Yu,S., Zhang,Y., Wang,Y., Jiang,X. and Wu,C.
  TITLE     Compound heterozygous loss-of-function variants in BRAT1 cause
            lethal neonatal rigidity and multifocal seizure syndrome
  JOURNAL   Mol Genet Genomic Med 11 (1), e2092 (2023)
   PUBMED   36367347
  REMARK    GeneRIF: Compound heterozygous loss-of-function variants in BRAT1
            cause lethal neonatal rigidity and multifocal seizure syndrome.
REFERENCE   6  (bases 1 to 2779)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (bases 1 to 2779)
  AUTHORS   Puffenberger,E.G., Jinks,R.N., Sougnez,C., Cibulskis,K.,
            Willert,R.A., Achilly,N.P., Cassidy,R.P., Fiorentini,C.J.,
            Heiken,K.F., Lawrence,J.J., Mahoney,M.H., Miller,C.J., Nair,D.T.,
            Politi,K.A., Worcester,K.N., Setton,R.A., Dipiazza,R.,
            Sherman,E.A., Eastman,J.T., Francklyn,C., Robey-Bond,S.,
            Rider,N.L., Gabriel,S., Morton,D.H. and Strauss,K.A.
  TITLE     Genetic mapping and exome sequencing identify variants associated
            with five novel diseases
  JOURNAL   PLoS One 7 (1), e28936 (2012)
   PUBMED   22279524
  REMARK    GeneRIF: Study identified sequence variants in the known
            disease-causing genes SLC6A3 and FLVCR1, and present evidence to
            strongly support the pathogenicity of variants identified in
            TUBGCP6, BRAT1, SNIP1, CRADD, and HARS.
REFERENCE   8  (bases 1 to 2779)
  AUTHORS   So,E.Y. and Ouchi,T.
  TITLE     Functional interaction of BRCA1/ATM-associated BAAT1 with the
            DNA-PK catalytic subunit
  JOURNAL   Exp Ther Med 2 (3), 443-447 (2011)
   PUBMED   22977523
REFERENCE   9  (bases 1 to 2779)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   10 (bases 1 to 2779)
  AUTHORS   Aglipay,J.A., Martin,S.A., Tawara,H., Lee,S.W. and Ouchi,T.
  TITLE     ATM activation by ionizing radiation requires BRCA1-associated
            BAAT1
  JOURNAL   J Biol Chem 281 (14), 9710-9718 (2006)
   PUBMED   16452482
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP363179.1, BC015632.2,
            AC092488.3 and AI963076.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152743.3.
            
            Summary: The protein encoded by this ubiquitously expressed gene
            interacts with the tumor suppressing BRCA1 (breast cancer 1)
            protein and and the ATM (ataxia telangiectasia mutated) protein.
            ATM is thought to be a master controller of cell cycle checkpoint
            signalling pathways that are required for cellular responses to DNA
            damage such as double-strand breaks that are induced by ionizing
            radiation and complexes with BRCA1 in the multi-protein complex
            BASC (BRAC1-associated genome surveillance complex). The protein
            encoded by this gene is thought to play a role in the DNA damage
            pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction in the 3' end of the coding sequence compared to
            variant 1. The resulting isoform (2) has the same N- and C-termini
            but is shorter compared to 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 :: SRR1660805.176755.1,
                                           SRR1803613.134447.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340611.9/ ENSP00000339637.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BP363179.1         234-245
            13-111              BC015632.2         1-99
            112-112             AC092488.3         42580-42580         c
            113-2712            BC015632.2         101-2700
            2713-2779           AI963076.1         2-68                c
FEATURES             Location/Qualifiers
     source          1..2779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..2779
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="BRCA1 associated ATM activator 1"
                     /db_xref="GeneID:221927"
                     /db_xref="HGNC:HGNC:21701"
                     /db_xref="MIM:614506"
     exon            1..38
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            39..181
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..2520
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="isoform 2 is encoded by transcript variant 2; HEAT
                     repeat-containing protein C7orf27; BRCA1-associated
                     protein required for ATM activation protein 1"
                     /codon_start=1
                     /product="BRCA1-associated ATM activator 1 isoform 2"
                     /protein_id="NP_689956.2"
                     /db_xref="CCDS:CCDS5334.1"
                     /db_xref="GeneID:221927"
                     /db_xref="HGNC:HGNC:21701"
                     /db_xref="MIM:614506"
                     /translation="MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGES
                     SVVLLQEHPCLVELLSHVLKVQDLSSGVLSFSLRLAGTFAAQENCFQYLQQGELLPGL
                     FGEPGPLGRATWAVPTVRSGWIQGLRSLAQHPSALRFLADHGAVDTIFSLQGDSSLFV
                     ASAASQLLVHVLALSMRGGAEGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQAL
                     NVLTTTFGRCQSPWTEALWVRLSPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSD
                     GSLWETVARALSCLGPTHMGPLALGILKLEHCPQALRTQAFQVLLQPLACVLKATVQA
                     PGPPGLLDGTADDATTVDTLLASKSSCAGLLCRTLAHLEELQPLPQRPSPWPQASLLG
                     ATVTVLRLCDGSAAPASSVGGHLCGTLAGCVRVQRAALDFLGTLSQGTGPQELVTQAL
                     AVLLECLESPGSSPTVLKKAFQATLRWLLSSPKTPGCSDLGPLIPQFLRELFPVLQKR
                     LCHPCWEVRDSALEFLTQLSRHWGGQADFRCALLASEVPQLALQLLQDPESYVRASAV
                     TAMGQLSSQGLHAPTSPEHAEARQSLFLELLHILSVDSEGFPRRAVMQVFTEWLRDGH
                     ADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALVFLGQTLGPPRTHCPYAVALPEV
                     APAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSCDLLLFLRDKIASYSSLREAR
                     GSPNTASAEATLPRWRAGEQAQPPGDQEPEAVLAMLRSLDLEGLRSTLAESSDHVEKS
                     PQSLLQDMLATGGFLQGDEADCY"
     exon            182..336
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            337..484
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            485..857
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            858..977
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1069
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1188
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1375
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1449
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1552
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1651
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..1824
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..2779
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2687..2692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="hexamer: AAGAAA"
     regulatory      2711..2716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="hexamer: AATAAA"
     polyA_site      2712
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="major polyA site"
     polyA_site      2738
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="major polyA site"
     regulatory      2760..2765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /note="hexamer: AATAAT"
     polyA_site      2779
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
ORIGIN      
        1 gggcgagggg tggttgcggc ggaggacgca accgagcggg cctgcggcct caccatggac
       61 ccagaatgcg cccagctgct cccggctctc tgtgctgttc tggtagatcc caggcagccg
      121 gtggcagatg acacctgttt ggagaagctc ctggactggt ttaaaacggt cactgaagga
      181 gagtccagtg tcgtgctgct gcaggagcac ccctgcctgg tggagctgct gtcccatgtg
      241 ctgaaagtcc aggacctgag ttctggggtc ctctccttct cactgcgcct ggcaggaacc
      301 ttcgcagccc aggaaaactg cttccagtat cttcagcagg gggagttact accagggctc
      361 tttggggagc caggacccct cggccgagca acctgggccg tccccaccgt gcgcagcggc
      421 tggatccagg gcctgcgctc cctggcacag caccccagcg ccctgcgctt cctggccgac
      481 catggtgcgg tcgacaccat cttctccctg cagggagact ccagcctgtt tgtggcctcg
      541 gcggccagtc agctcctggt gcacgtcctg gctttgtcca tgcgaggtgg agccgagggg
      601 cagccctgcc tgccgggggg tgactggccc gcgtgtgccc agaagatcat ggatcacgtt
      661 gaagagtcct tgtgctccgc ggccaccccc aaggtcactc aggccctgaa cgtcctgacc
      721 acgaccttcg ggcgctgcca gagcccctgg acggaagccc tgtgggtgcg gctgagtccc
      781 cgcgtggcct gtctgctgga gagagacccc atccccgccg cacactcgtt cgtggacctg
      841 cttctctgtg tggctcgttc tcccgtgttc agttcttccg acggcagcct gtgggagaca
      901 gtggcgcggg ctctgagctg cctgggtccc acccacatgg gacccctggc tttggggatc
      961 ctgaagctcg agcactgtcc acaggcactg aggacccagg ccttccaggt ccttctccag
     1021 cccctggcct gtgtcctgaa ggccacggtt caggcccccg gacccccagg cttgctggac
     1081 gggacggcag acgatgccac gacggtggac acactcctgg cctccaagtc gtcctgcgcc
     1141 ggcctcctgt gccgcaccct ggctcacctg gaggagctgc agccgctgcc ccagcgccct
     1201 tcaccgtggc cccaggcgtc tctactgggg gctacagtga ctgtcctgcg gctctgtgac
     1261 ggctcggctg cccctgcctc cagtgtgggg ggccacctct gtgggaccct ggcgggctgc
     1321 gtccgggtcc agcgagcagc cctcgacttc ctggggacgc tgtcacaggg gacaggcccc
     1381 caggagctgg tgacgcaggc gcttgctgtc ctcctggagt gcctcgagag ccccggctcc
     1441 agccccacgg ttctgaagaa ggccttccag gccacgctca ggtggctcct gagctcaccc
     1501 aagacccccg gctgctctga tctcggcccc ctcatcccgc agttcctcag agagctgttc
     1561 cctgtgctgc agaaacgcct gtgccacccc tgctgggagg tgagggactc cgccctcgag
     1621 ttcctgaccc agctgagcag gcactgggga ggacaggctg acttcagatg cgcactcttg
     1681 gcttcagagg tgcctcagct ggccctgcag ctcctccagg accctgagag ttatgtccga
     1741 gcgagtgcag tgaccgccat ggggcagctg tccagccagg gcctgcacgc ccccaccagc
     1801 cctgagcatg cagaggcccg gcagagcctg ttcctggagc tcctgcacat cctctccgta
     1861 gactcggagg gcttcccacg gcgggcggtc atgcaagtct tcactgagtg gctgcgggac
     1921 ggccacgccg acgcggccca ggacacggag cagttcgtgg ccactgtgct gcaggcggcg
     1981 agccgagacc tggactggga ggtccgcgcc cagggcctgg agctggccct cgtgttcctg
     2041 ggccagactt tggggccgcc gcgtacccac tgcccctatg ccgtggccct acccgaggtg
     2101 gccccagccc agccactcac cgaggcactg agggctctct gccacgtggg gctctttgac
     2161 ttcgcctttt gtgccttgtt tgactgcgac cgccctgtgg cgcagaagtc ttgtgacctc
     2221 cttctcttcc tgagggacaa gattgcttcc tacagcagcc tgcgggaggc caggggcagc
     2281 cccaacactg cctccgcaga ggccaccctg ccgaggtggc gggcgggtga gcaggcccag
     2341 cccccagggg accaggagcc tgaggctgtg ctggccatgc tcaggtccct agacctggag
     2401 ggcctgcgga gcacgctggc cgagagcagc gaccacgtgg aaaagagtcc ccagtccctc
     2461 ctgcaggaca tgctggccac gggaggcttc ctgcaggggg acgaggccga ctgctactga
     2521 gcagaaccag agtctgccac tggggctcag gaccaaggga ggcagcacca tgtccttctg
     2581 tgggacactg ccagccccag ggctccagcc cagcccggtg gatcctctgg ggaagccagg
     2641 accaggagag aagcaaggtc aagaaatccc acagtttgat gtattaaaga aatgacttat
     2701 ttctactcaa aataaatggc attgaagtct ttctttaacc ctttttgagt taatttaata
     2761 ataatgatct gagacaagg
//
