LOCUS       NP_840094               1174 aa            linear   ROD 15-APR-2025
DEFINITION  Fanconi anemia group J protein homolog [Mus musculus].
ACCESSION   NP_840094
VERSION     NP_840094.1
DBSOURCE    REFSEQ: accession NM_178309.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 1174)
  AUTHORS   Jimenez,D.A., Walker,A., Usdin,K. and Zhao,X.
  TITLE     Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on
            Repeat Expansion in a Mouse Model of the Fragile X-Related
            Disorders
  JOURNAL   Int J Mol Sci 26 (6), 2655 (2025)
   PUBMED   40141297
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1174)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (residues 1 to 1174)
  AUTHORS   Horan,T.S., Ascencao,C.F.R., Mellor,C., Wang,M., Smolka,M.B. and
            Cohen,P.E.
  TITLE     The DNA helicase FANCJ (BRIP1) functions in double strand break
            repair processing, but not crossover formation during prophase I of
            meiosis in male mice
  JOURNAL   PLoS Genet 20 (2), e1011175 (2024)
   PUBMED   38377115
  REMARK    GeneRIF: The DNA helicase FANCJ (BRIP1) functions in double strand
            break repair processing, but not crossover formation during
            prophase I of meiosis in male mice.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1174)
  AUTHORS   Li,L., Sun,Y., Davis,A.E., Shah,S.H., Hamed,L.K., Wu,M.R.,
            Lin,C.H., Ding,J.B. and Wang,S.
  TITLE     Mettl14-mediated m6A modification ensures the cell-cycle
            progression of late-born retinal progenitor cells
  JOURNAL   Cell Rep 42 (6), 112596 (2023)
   PUBMED   37269288
REFERENCE   5  (residues 1 to 1174)
  AUTHORS   Matern,M.S., Durruthy-Durruthy,R., Birol,O., Darmanis,S.,
            Scheibinger,M., Groves,A.K. and Heller,S.
  TITLE     Transcriptional dynamics of delaminating neuroblasts in the mouse
            otic vesicle
  JOURNAL   Cell Rep 42 (6), 112545 (2023)
   PUBMED   37227818
REFERENCE   6  (residues 1 to 1174)
  AUTHORS   Sun,X., Brieno-Enriquez,M.A., Cornelius,A., Modzelewski,A.J.,
            Maley,T.T., Campbell-Peterson,K.M., Holloway,J.K. and Cohen,P.E.
  TITLE     FancJ (Brip1) loss-of-function allele results in spermatogonial
            cell depletion during embryogenesis and altered processing of
            crossover sites during meiotic prophase I in mice
  JOURNAL   Chromosoma 125 (2), 237-252 (2016)
   PUBMED   26490168
  REMARK    GeneRIF: FANCJ play roles in spermatogenesis at two stages: firstly
            in the proliferative activity that gives rise to the full
            complement of testicular spermatogonia and secondly in the
            establishment of appropriate crossovers numbers during prophase I.
REFERENCE   7  (residues 1 to 1174)
  AUTHORS   Peng,M., Xie,J., Ucher,A., Stavnezer,J. and Cantor,S.B.
  TITLE     Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways
            prevents MSH2-dependent aberrant DNA damage responses
  JOURNAL   EMBO J 33 (15), 1698-1712 (2014)
   PUBMED   24966277
REFERENCE   8  (residues 1 to 1174)
  AUTHORS   Wang,B.
  TITLE     BRCA1 tumor suppressor network: focusing on its tail
  JOURNAL   Cell Biosci 2 (1), 6 (2012)
   PUBMED   22369660
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 1174)
  AUTHORS   Hiom,K.
  TITLE     FANCJ: solving problems in DNA replication
  JOURNAL   DNA Repair (Amst) 9 (3), 250-256 (2010)
   PUBMED   20122882
  REMARK    GeneRIF: Review of the functions and disease associations of human
            FANCJ.
            Review article
REFERENCE   10 (residues 1 to 1174)
  AUTHORS   Menichini,P. and Linial,M.
  TITLE     SUVi and BACH1: a new subfamily of mammalian helicases?
  JOURNAL   Mutat Res 487 (1-2), 67-71 (2001)
   PUBMED   11595410
  REMARK    GeneRIF: Compares the human homolog to other members of the RecQ
            helicase family
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK051878.1, BC094252.1,
            AK080771.1 and CJ240209.1.
            
            Summary: This gene encodes a member of the DEAH subfamily of DEAD
            box helicases. A similar protein in humans is both a DNA-dependent
            ATPase and a 5-prime-to-3-prime DNA helicase, and plays a role in
            the repair of DNA double stranded breaks through interaction with
            the breast cancer-associated tumor suppressor BRCA1. [provided by
            RefSeq, Feb 2011].
            
            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 :: BC094252.1, AK033205.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1174
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 51.61 cM"
     Protein         1..1174
                     /product="Fanconi anemia group J protein homolog"
                     /EC_number="5.6.2.3"
                     /note="ATP-dependent RNA helicase BRIP1; BRCA1-associated
                     C-terminal helicase 1; DNA 5'-3' helicase FANCJ"
                     /calculated_mol_wt=131230
     Region          <25..>72
                     /region_name="PRK08074"
                     /note="bifunctional ATP-dependent DNA helicase/DNA
                     polymerase III subunit epsilon; Validated"
                     /db_xref="CDD:236148"
     Region          101..160
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Region          158..175
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Region          187..208
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Region          248..884
                     /region_name="rad3"
                     /note="DNA repair helicase (rad3); TIGR00604"
                     /db_xref="CDD:273169"
     Region          393..396
                     /region_name="DEAH box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Region          888..1063
                     /region_name="Interaction with BRCA1.
                     /evidence=ECO:0000250|UniProtKB:Q9BX63"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Region          923..1001
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Site            929
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9BX63; propagated from
                     UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Site            932
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9BX63; propagated from
                     UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Site            994
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9BX63; propagated from
                     UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Region          1102..1155
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     Site            1174
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9BX63; propagated from
                     UniProtKB/Swiss-Prot (Q5SXJ3.1)"
     CDS             1..1174
                     /gene="Brip1"
                     /gene_synonym="3110009N10Rik; 8030460J03Rik; Bach1; FACJ;
                     Fancj; OF"
                     /coded_by="NM_178309.2:116..3640"
                     /db_xref="CCDS:CCDS25197.1"
                     /db_xref="GeneID:237911"
                     /db_xref="MGI:MGI:2442836"
ORIGIN      
        1 mssvlsdyti ggvkihfpcr aypaqlammn sivrglnssq hcllesptgs gkslallcsa
       61 lawqqslsek pvdeglnkkp eappscscac hsknftysdt nldtsphfns pskpssgrng
      121 vstpcqdspe kntlaaklsa kkqasihrde dddfqvekkr irplettqqi rkrhclekdv
      181 hhvdarlase krvkpespig ksfsdrkdsf qnvdglcsrc ccsakqgnnq epantvkkdh
      241 ggqckrpkiy fgtrthkqia qitrelrkta ysgvpmtils srdhscvhpe vvgnfnrkek
      301 cmelldgkhg kscyfyhgvh kisnqqtlqh lqgmsrawdi eelvslgrkl kacpyytare
      361 liedadivfc pynylldsqi retmdiklkg qvvildeahn iedcaresas ysvtevqlrf
      421 ardeldslin gnirkkshep lrdvcynlin wletnskhlv ergyesscki wsgnemllnl
      481 yrmgittatf pvlqrhlsav lqkeekvtpi hgkeeaiqip iisastqvvl kglfmvldyl
      541 frensrfadd ykvaiqqtys wtnqiaifdk tgvlavpknk khsrqkigvn alnfwclnpa
      601 vafsdindkv rtivltsgtl splksfssel gvtfsiqlea nhvisnsqvw vgtvgsgpkg
      661 rnlcatfqht etfefqdevg mlllsvcqtv sqgilcflps yklleklrer wiftglwhsl
      721 esvktviaep qggektdfde llqvyydaik fkgekdgall iavcrgkvse gldfsddnar
      781 avitvgipfp nvkdlqvelk rqyndhhsks rgllpgrqwy eiqayralnq algrcirhkn
      841 dwgalilvdd rfnnnpnryi sglskwvrqq iqhhssfasa lesltefsrr hqkvtnrskk
      901 dekctkdnep tlevacleds tftsvsessh qspensteea evcvqelqcp qvatkspsva
      961 shgvsrrkks dpglrgeslq tmktekneis rsssptfgkq tepvnwpifn slrrhfnskv
     1021 knctpvlkss knrapgsstf nktalpltgn cvpsnetadt slgpclqsev iispvkieat
     1081 patnyskqvf ccekdllpdt elspgteeak cpssnkaaet evdddsecft pelfdpvdtn
     1141 eengelvetd rsshssdcfs aeelfetatg fgqk
//
