LOCUS       NM_139076               4210 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens abraxas 1, BRCA1 A complex subunit (ABRAXAS1),
            transcript variant 1, mRNA.
ACCESSION   NM_139076
VERSION     NM_139076.3
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 4210)
  AUTHORS   Kliche,J., Simonetti,L., Krystkowiak,I., Kuss,H., Diallo,M.,
            Rask,E., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Proteome-scale characterisation of motif-based interactome rewiring
            by disease mutations
  JOURNAL   Mol Syst Biol 20 (9), 1025-1048 (2024)
   PUBMED   39009827
REFERENCE   2  (bases 1 to 4210)
  AUTHORS   Sachsenweger,J., Jansche,R., Merk,T., Heitmeir,B., Deniz,M.,
            Faust,U., Roggia,C., Tzschach,A., Schroeder,C., Riess,A.,
            Pospiech,H., Peltoketo,H., Pylkas,K., Winqvist,R. and Wiesmuller,L.
  TITLE     ABRAXAS1 orchestrates BRCA1 activities to counter genome
            destabilizing repair pathways-lessons from breast cancer patients
  JOURNAL   Cell Death Dis 14 (5), 328 (2023)
   PUBMED   37198153
  REMARK    GeneRIF: ABRAXAS1 orchestrates BRCA1 activities to counter genome
            destabilizing repair pathways-lessons from breast cancer patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4210)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4210)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   5  (bases 1 to 4210)
  AUTHORS   Wu,Q., Paul,A., Su,D., Mehmood,S., Foo,T.K., Ochi,T., Bunting,E.L.,
            Xia,B., Robinson,C.V., Wang,B. and Blundell,T.L.
  TITLE     Structure of BRCA1-BRCT/Abraxas Complex Reveals
            Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites
  JOURNAL   Mol Cell 61 (3), 434-448 (2016)
   PUBMED   26778126
  REMARK    GeneRIF: Demonstrate a mechanism involving IR-induced
            phosphorylation and dimerization of the BRCT/Abraxas complex for
            regulating Abraxas-mediated recruitment of BRCA1 in response to IR.
REFERENCE   6  (bases 1 to 4210)
  AUTHORS   Osorio,A., Barroso,A., Garcia,M.J., Martinez-Delgado,B., Urioste,M.
            and Benitez,J.
  TITLE     Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in
            familial breast cancer susceptibility
  JOURNAL   Breast Cancer Res Treat 113 (2), 371-376 (2009)
   PUBMED   18270812
  REMARK    GeneRIF: Mutational analysis in 168 multiple-case breast/ovarian
            cancer families, negative for mutations in BRCA1 or BRCA2, suggests
            that CCDC98 does not play an important role as a high penetrance
            breast cancer susceptibility gene.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4210)
  AUTHORS   Wang,B. and Elledge,S.J.
  TITLE     Ubc13/Rnf8 ubiquitin ligases control foci formation of the
            Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage
  JOURNAL   Proc Natl Acad Sci U S A 104 (52), 20759-20763 (2007)
   PUBMED   18077395
  REMARK    GeneRIF: the human Ubc13/Rnf8 ubiquitin ligases control foci
            formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to
            DNA damage
REFERENCE   8  (bases 1 to 4210)
  AUTHORS   Kim,H., Huang,J. and Chen,J.
  TITLE     CCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA
            damage response
  JOURNAL   Nat Struct Mol Biol 14 (8), 710-715 (2007)
   PUBMED   17643122
  REMARK    GeneRIF: CCDC98 is a mediator of BRCA1 function involved in the
            mammalian DNA damage response.
REFERENCE   9  (bases 1 to 4210)
  AUTHORS   Liu,Z., Wu,J. and Yu,X.
  TITLE     CCDC98 targets BRCA1 to DNA damage sites
  JOURNAL   Nat Struct Mol Biol 14 (8), 716-720 (2007)
   PUBMED   17643121
  REMARK    GeneRIF: CCDC98 is a BRCA1 binding partner that mediates BRCA1
            function in response to DNA damage.
REFERENCE   10 (bases 1 to 4210)
  AUTHORS   Wang,B., Matsuoka,S., Ballif,B.A., Zhang,D., Smogorzewska,A.,
            Gygi,S.P. and Elledge,S.J.
  TITLE     Abraxas and RAP80 form a BRCA1 protein complex required for the DNA
            damage response
  JOURNAL   Science 316 (5828), 1194-1198 (2007)
   PUBMED   17525340
  REMARK    GeneRIF: Abraxas and RAP80 were required for DNA damage resistance,
            G(2)-M checkpoint control, and DNA repair.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096768.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_139076.2.
            
            Summary: This gene encodes a protein that binds to the C-terminal
            repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif.
            The encoded protein recruits ubiquitin interaction motif containing
            1 protein to BRCA1 protein and is required for DNA damage
            resistance, DNA repair, and cell cycle checkpoint control.
            Pseudogenes of this gene are found on chromosomes 3 and 8.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2016].
            
            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 :: AK022704.1, BC039573.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321945.12/ ENSP00000369857.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               AC096768.3         102199-102313       c
            116-206             AC096768.3         99367-99457         c
            207-243             AC096768.3         93856-93892         c
            244-310             AC096768.3         89435-89501         c
            311-504             AC096768.3         87416-87609         c
            505-624             AC096768.3         86245-86364         c
            625-709             AC096768.3         84667-84751         c
            710-824             AC096768.3         80707-80821         c
            825-4210            AC096768.3         76730-80115         c
FEATURES             Location/Qualifiers
     source          1..4210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     gene            1..4210
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /note="abraxas 1, BRCA1 A complex subunit"
                     /db_xref="GeneID:84142"
                     /db_xref="HGNC:HGNC:25829"
                     /db_xref="MIM:611143"
     exon            1..115
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1258
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain containing 98; abraxas protein; family
                     with sequence similarity 175 member A; BRCA1-A complex
                     subunit Abraxas 1"
                     /codon_start=1
                     /product="BRCA1-A complex subunit Abraxas 1 isoform 1"
                     /protein_id="NP_620775.2"
                     /db_xref="CCDS:CCDS3605.2"
                     /db_xref="GeneID:84142"
                     /db_xref="HGNC:HGNC:25829"
                     /db_xref="MIM:611143"
                     /translation="MEGESTSAVLSGFVLGALAFQHLNTDSDTEGFLLGEVKGEAKNS
                     ITDSQMDDVEVVYTIDIQKYIPCYQLFSFYNSSGEVNEQALKKILSNVKKNVVGWYKF
                     RRHSDQIMTFRERLLHKNLQEHFSNQDLVFLLLTPSIITESCSTHRLEHSLYKPQKGL
                     FHRVPLVVANLGMSEQLGYKTVSGSCMSTGFSRAVQTHSSKFFEEDGSLKEVHKINEM
                     YASLQEELKSICKKVEDSEQAVDKLVKDVNRLKREIEKRRGAQIQAAREKNIQKDPQE
                     NIFLCQALRTFFPNSEFLHSCVMSLKNRHVSKSSCNYNHHLDVVDNLTLMVEHTDIPE
                     ASPASTPQIIKHKALDLDDRWQFKRSRLLDTQDKRSKADTGSSNQDKASKMSSPETDE
                     EIEKMKGFGEYSRSPTF"
     exon            116..206
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            207..243
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            244..310
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            311..504
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            505..624
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            625..709
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            710..824
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     exon            825..4210
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2761..2766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /note="hexamer: AATAAA"
     polyA_site      2788
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /note="major polyA site"
     regulatory      4188..4193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
                     /note="hexamer: ATTAAA"
     polyA_site      4210
                     /gene="ABRAXAS1"
                     /gene_synonym="ABRA1; CCDC98; FAM175A"
ORIGIN      
        1 ctcttgtgta gcctgaggcg gcggtagcat ggagggggag agtacgtcgg cggtgctctc
       61 gggctttgtg ctcggcgcac tcgctttcca gcacctcaac acggactcgg acacggaagg
      121 ttttcttctt ggggaagtaa aaggtgaagc caagaacagc attactgatt cccaaatgga
      181 tgatgttgaa gttgtttata caattgacat tcagaaatat attccatgct atcagctttt
      241 tagcttttat aattcttcag gcgaagtaaa tgagcaagca ctgaagaaaa tattatcaaa
      301 tgtcaaaaag aatgtggtag gttggtacaa attccgtcgt cattcagatc agatcatgac
      361 gtttagagag aggctgcttc acaaaaactt gcaggagcat ttttcaaacc aagaccttgt
      421 ttttctgcta ttaacaccaa gtataataac agaaagctgc tctactcatc gactggaaca
      481 ttccttatat aaacctcaaa aaggactttt tcacagggta cctttagtgg ttgccaatct
      541 gggcatgtct gaacaactgg gttataaaac tgtatcaggt tcctgtatgt ccactggttt
      601 tagccgagca gtacaaacac acagctctaa attttttgaa gaagatggat ccttaaagga
      661 ggtacataag ataaatgaaa tgtatgcttc attacaagag gaattaaaga gtatatgcaa
      721 aaaagtggaa gacagtgaac aagcagtaga taaactagta aaggatgtaa acagattaaa
      781 acgagaaatt gagaaaagga gaggagcaca gattcaggca gcaagagaga agaacatcca
      841 aaaagaccct caggagaaca tttttctttg tcaggcatta cggacctttt ttccaaattc
      901 tgaatttctt cattcatgtg ttatgtcttt aaaaaataga catgtttcta aaagtagctg
      961 taactacaac caccatctcg atgtagtaga caatctgacc ttaatggtag aacacactga
     1021 cattcctgaa gctagtccag ctagtacacc acaaatcatt aagcataaag ccttagactt
     1081 agatgacaga tggcaattca agagatctcg gttgttagat acacaagaca aacgatctaa
     1141 agcagatact ggtagtagta accaagataa agcatccaaa atgagcagcc cagaaacaga
     1201 tgaagaaatt gaaaagatga agggttttgg tgaatattca cggtctccta cattttgatc
     1261 cttttaacct tacaaggaga tttttttatt tggctgatgg gtaaagccaa acatttctat
     1321 tgtttttact atgttgagct acttgcagta agttcatttg tttttactat gttcacctgt
     1381 ttgcagtaat acacagataa ctcttagtgc atttacttca caaagtactt tttcaaacat
     1441 cagatgcttt tatttccaaa cctttttttc acctttcact aagttgttga ggggaaggct
     1501 tacacagaca cattctttag aattggaaaa gtgagaccag gcacagtggc tcacacctgt
     1561 aatcccagca cttagggaag acaagtcagg aggattgatt gaagttagga gttagagacc
     1621 agcctgggca acgtattgag accatgtcta ttaaaaaata aaatggaaaa gcaagaatag
     1681 ccttattttc aaaatatgga aagaaattta tatgaaaatt tatctgagtc attaaaattc
     1741 tccttaagtg atactttttt agaagtacat tatggctaga gttgccagat aaaatgctgg
     1801 atatcatgca ataaatttgc aaaacatcat ctaaaattta aatttgtcct acatttgtac
     1861 ttgctaaatc tggcagcctt aattattaca caactataac acaacacaaa cagtaatctc
     1921 tcccctagtt tagagtcctt tgcatgaaat ttagcaaatc tatcattttg aatacagtac
     1981 aagcctggta atccagtgta tttgggatag gccagtggaa ctcagaactg atacatatat
     2041 acatgtatgt ctatcatatt caatgtctat taggtgtaaa tcatctcttc atgtaaaaga
     2101 cactactggt ttgagggtag actcgtctag gaatattttg tccttctgtg acagcaccac
     2161 tatccatccc aatgtaacat ttctacaaag ggaagatatc ttaaccaggc atacttatat
     2221 ttgctagttg gaaaatcatt ctgaacagtt ttaattccat tctattgaat ggattattgt
     2281 atgagctatt tggggatcag atataaatga caatcacaca gaaccacttt tattcaacat
     2341 agataaaatg tgatgagtgt taacatttta aataagcaat ctgcttaatg gacattggta
     2401 tgaaggggaa gtgtcattct ttacctcact cctcaaacac ttttctatcc aaaggttggt
     2461 ttgagtcagt attggcatca tacaaccact tactgtaaaa taagtttatt agtggtaacg
     2521 tgatagaatt tattcccgat atctgatgtt acaaacttta gggtccttga gatatgcagg
     2581 atccttgtat gtaactggca taaaccctgt aaagagataa ttaaagttct tgacaaaaca
     2641 taatgagcaa aatttcagct agctcaattc agttgttgag gtattctttc ttacccatta
     2701 tttgagctct cttaattgct tttgtgattt ctttctgttt cttcccacaa agacctgtaa
     2761 aataaaaagc tttcttattc ataaaaaatg tcaatattta aagtttgcaa tttttttttt
     2821 tgagatggag tctccctgtg tcacccaggc tggagtacag tggtgctctc tcgcctcact
     2881 gcaacctccg ccacccaggc tcaatcgatt atcttgcctc agcctcctta gtaactggaa
     2941 ttacaggcat gcaccgccac acccggataa tttttttgta tttgtagtag aaacggggtt
     3001 tcaccatatt ggccaggctg gtcctgaact cctggcctca ggtgatctgc ccacctcagc
     3061 ctcccaaagt gctgggatta caggtgtgag ccaacatgcc cagcctcaac aagtttttaa
     3121 gtcaaggatt ggtaaatcat ttttgtcaag ggccacaata ataatctagg ttttgtgggc
     3181 catacagtct ccatcactgc cactcaactc tgctgttgta gctcgaaaac aaccatatgg
     3241 cactacgtaa acaaaactac aaaaacaagt ggggttgggt gcagtggctc acacctgtaa
     3301 tcccagcact ttgggaggcc taggcaggtg gatcacctga ggtcaggaat tcaagaccag
     3361 cctggccaac atggagaaac ccaatctcta aaaatacaaa aattagccag gcgtggtggt
     3421 gcatgcctgt aatcccagct attcgggagg ctgaagcatg agaatcactt gaacccagga
     3481 ggcagaggtt gcagtgagcc gagattgtgc cacagcactc cagcctgggt gacagtgaga
     3541 ttccatctca aaaaaaaaaa aaagtggcat ttgtatatga tgaacctaat caagataaaa
     3601 agggagcagg tcgaatttgg cctatgggcc atagtttgct gacaccaagt ttaagtatca
     3661 atctaggaat gattatagta tattccaaaa catcaacaac agttttttaa agcccagttt
     3721 ttctatatag ttaactctgc ataagacagc aaaataataa tcctcttggc ctaagagact
     3781 ttttcatagt aactagctct agtccctgta gtatctgatc tagtagtaat ttatagcaca
     3841 atttgaaaat ttgagttttc ttaaatgata gaaatagatt gatataattc gtatctacat
     3901 ttatattccc ataataaaaa agaacatacc tgtaatgtgc cttccataaa tgcatccagt
     3961 aaatggagaa acaaactggg acaaaagctg ttttggagtt ttatgtggag gggaaaaaaa
     4021 agtatctgtt atttatttct gaatgtgtaa atttcaaaaa acaaccttca ggttatataa
     4081 agctttacta aatttcagac acatttcata aaatataaga aaaaaatatt gttatcctcc
     4141 tgttaccttt taaatatttt ctatccagtg tgtcaagtct atatataatt aaacagcaga
     4201 ttaatcagca
//
