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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.


RefSeq Accession Definition Services Price Order
NM_032043 Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. ORF Sequence $1312.50
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_032043.2, 301897117
Length 8166 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.
Product Fanconi anemia group J protein
Comment

Summary: The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008].


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.

RefSeq NP_114432.2
CDS 307..4056
Misc Feature(1)286..288
Misc Feature(2)286..288
Misc Feature(3)778..831
Misc Feature(4)778..831
Misc Feature(5)1039..2949
Misc Feature(6)1048..1551
Misc Feature(7)1483..1494
Misc Feature(8)2344..2901
Misc Feature(9)2968..3495
Misc Feature(10)3085..3087
Misc Feature(11)3094..3096
Misc Feature(12)3274..3276
Misc Feature(13)3400..3402
Misc Feature(14)4015..4017
Exon (1)1..276
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (2)277..399
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (3)400..511
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (4)512..685
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (5)686..813
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (6)814..933
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (7)934..1224
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (8)1225..1446
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (9)1447..1646
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (10)1647..1779
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (11)1780..1934
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (12)1935..2100
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (13)2101..2241
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (14)2242..2403
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (15)2404..2563
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (16)2564..2685
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (17)2686..2798
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (18)2799..2881
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (19)2882..3211
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Exon (20)3212..8166
Gene:BRIP1
Gene Synonym:BACH1; FANCJ; OF
Translation MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSA LAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNG TSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV HNLDAKVDSGKTVKLNSPLEKINSFSPQKPPGHCSRCCCSTKQGNSQESSNTIKKDHTGK SKIPKIYFGTRTHKQIAQITRELRRTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCME LLDGKNGKSCYFYHGVHKISDQHTLQTFQGMCKAWDIEELVSLGKKLKACPYYTARELIQ DADIIFCPYNYLLDAQIRESMDLNLKEQVVILDEAHNIEDCARESASYSVTEVQLRFARD ELDSMVNNNIRKKDHEPLRAVCCSLINWLEANAEYLVERDYESACKIWSGNEMLLTLHKM GITTATFPILQGHFSAVLQKEEKISPIYGKEEAREVPVISASTQIMLKGLFMVLDYLFRQ NSRFADDYKIAIQQTYSWTNQIDISDKNGLLVLPKNKKRSRQKTAVHVLNFWCLNPAVAF SDINGKVQTIVLTSGTLSPMKSFSSELGVTFTIQLEANHIIKNSQVWVGTIGSGPKGRNL CATFQNTETFEFQDEVGALLLSVCQTVSQGILCFLPSYKLLEKLKERWLSTGLWHNLELV KTVIVEPQGGEKTNFDELLQVYYDAIKYKGEKDGALLVAVCRGKVSEGLDFSDDNARAVI TIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRALNQALGRCIRHRNDWG ALILVDDRFRNNPSRYISGLSKWVRQQIQHHSTFESALESLAEFSKKHQKVLNVSIKDRT NIQDNESTLEVTSLKYSTSPYLLEAASHLSPENFVEDEAKICVQELQCPKIITKNSPLPS SIISRKEKNDPVFLEEAGKAEKIVISRSTSPTFNKQTKRVSWSSFNSLGQYFTGKIPKAT PELGSSENSASSPPRFKTEKMESKTVLPFTDKCESSNLTVNTSFGSCPQSETIISSLKID ATLTRKNHSEHPLCSEEALDPDIELSLVSEEDKQSTSNRDFETEAEDESIYFTPELYDPE DTDEEKNDLAETDRGNRLANNSDCILAKDLFEIRTIKEVDSAREVKAEDCIDTKLNGILH IEESKIDDIDGNVKTTWINELELGKTHEIEIKNFKPSPSKNKGMFPGFK
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Position Chain Variation Link
complement(70..71)-dbSNP:
complement(70..71)-, adbSNP:112243287
complement(102)-t, cdbSNP:2048718
complement(110)-t, gdbSNP:180948389
complement(172)-g, cdbSNP:79220357
complement(177)-t, cdbSNP:4988339
complement(180)-g, adbSNP:148498140
complement(316)-g, adbSNP:45512093
complement(342)-t, gdbSNP:45566938
complement(375)-g, adbSNP:45458996
complement(445)-dbSNP:
complement(445)-g, cdbSNP:28903098
complement(501)-t, cdbSNP:141436143
complement(531)-dbSNP:
complement(531)-g, adbSNP:186802750
complement(555)-g, adbSNP:45528833
complement(571)-, catgttgttgtgdbSNP:28997568
complement(603)-g, adbSNP:201617644
complement(623)-t, cdbSNP:143615668
complement(638)-t, gdbSNP:201790351
complement(676)-g, adbSNP:45617634
complement(721)-dbSNP:
complement(721)-c, adbSNP:202072866
complement(736)-t, cdbSNP:116952709
complement(791)-t, cdbSNP:61757643
complement(823)-dbSNP:
complement(823)-t, cdbSNP:4988345
complement(856)-c, adbSNP:201047375
complement(883)-g, adbSNP:4988346
complement(890)-t, cdbSNP:4988347
complement(901)-g, adbSNP:144969738
complement(934)-dbSNP:
complement(934)-g, adbSNP:150313156
complement(935)-t, g, adbSNP:140097800
complement(950)-t, gdbSNP:12947398
complement(954)-t, cdbSNP:202035881
complement(985)-g, cdbSNP:45459799
complement(1008)-g, adbSNP:45512798
complement(1084)-t, cdbSNP:138743097
complement(1096)-t, cdbSNP:28997569
complement(1101)-t, cdbSNP:61754143
complement(1126)-t, cdbSNP:62620988
complement(1137)-g, cdbSNP:45549332
complement(1151)-g, cdbSNP:45624635
complement(1158)-g, adbSNP:144940449
complement(1160)-t, cdbSNP:141055990
complement(1173)-g, adbSNP:147739458
complement(1174)-t, cdbSNP:145601931
complement(1175)-t, cdbSNP:148556781
complement(1196)-g, adbSNP:28997570
complement(1203)-g, adbSNP:137852985
complement(1247)-dbSNP:
complement(1247)-t, cdbSNP:112076926
complement(1351)-g, cdbSNP:149364097
complement(1395)-g, adbSNP:139701369
complement(1544)-dbSNP:
complement(1544)-t, cdbSNP:45576134
complement(1560..1561)-t, cdbSNP:4988348
complement(1561)-g, adbSNP:150624408
complement(1563)-t, cdbSNP:148429663
complement(1638)-g, adbSNP:200581792
complement(1739)-dbSNP:
complement(1739)-g, adbSNP:45501097
complement(1748)-c, adbSNP:200062099
complement(1750)-t, cdbSNP:142744352
complement(1892)-dbSNP:
complement(1892)-t, cdbSNP:138784299
complement(1897)-t, gdbSNP:4988350
complement(1911)-g, cdbSNP:56024614
complement(1922)-t, cdbSNP:199616792
complement(1925)-t, adbSNP:4988349
complement(1990)-dbSNP:
complement(1990)-g, adbSNP:45533636
complement(2001)-t, gdbSNP:142572387
complement(2010)-c, adbSNP:148021971
complement(2041)-t, cdbSNP:28997571
complement(2129)-dbSNP:
complement(2129)-t, cdbSNP:112505689
complement(2131)-t, cdbSNP:189758577
complement(2137)-t, cdbSNP:148841084
complement(2178)-t, cdbSNP:145504336
complement(2196)-t, cdbSNP:145796331
complement(2205)-g, cdbSNP:28997572
complement(2299..2300)-dbSNP:
complement(2299..2300)-, gdbSNP:34224865
complement(2367)-g, cdbSNP:112414873
complement(2393)-g, adbSNP:147755155
complement(2426)-dbSNP:
complement(2426)-t, cdbSNP:200313471
complement(2473)-t, cdbSNP:145616741
complement(2526)-t, gdbSNP:45589637
complement(2542)-t, cdbSNP:111536363
complement(2591)-dbSNP:
complement(2591)-t, cdbSNP:200960251
complement(2592)-g, adbSNP:61754141
complement(2616)-g, adbSNP:148752066
complement(2623)-t, cdbSNP:146091205
complement(2650)-t, cdbSNP:142806416
complement(2698)-dbSNP:
complement(2698)-t, cdbSNP:137852986
complement(2746)-g, adbSNP:201869624
complement(2747)-g, adbSNP:45468199
complement(2774)-t, gdbSNP:45479297
complement(2801)-dbSNP:
complement(2801)-g, adbSNP:4988355
complement(2803)-t, cdbSNP:199831248
complement(2848)-t, cdbSNP:45572934
complement(2869)-g, adbSNP:146031731
complement(2870)-t, cdbSNP:200894063
complement(2875)-g, adbSNP:28904918
complement(2896)-dbSNP:
complement(2896)-t, cdbSNP:149529390
complement(2905)-t, gdbSNP:182028200
complement(2919)-g, adbSNP:199721657
complement(2943)-g, adbSNP:4986765
complement(3057)-g, adbSNP:150780318
complement(3061)-t, cdbSNP:4986764
complement(3110)-t, gdbSNP:4988356
complement(3118)-t, cdbSNP:199643061
complement(3136)-g, cdbSNP:140233356
complement(3137)-t, cdbSNP:148232408
complement(3153)-t, cdbSNP:45499991
complement(3160)-t, cdbSNP:200239986
complement(3164)-g, adbSNP:201672040
complement(3172)-g, adbSNP:74824981
complement(3179)-t, adbSNP:145859791
complement(3199)-t, cdbSNP:113697814
complement(3243)-dbSNP:
complement(3243)-t, cdbSNP:75091137
complement(3263)-g, cdbSNP:182087528
complement(3297)-g, adbSNP:45466996
complement(3348)-g, adbSNP:188258913
complement(3375)-g, adbSNP:61754142
complement(3376)-t, cdbSNP:147119272
complement(3405)-g, adbSNP:202228407
complement(3409)-t, cdbSNP:45437094
complement(3484)-t, cdbSNP:149016505
complement(3501)-g, adbSNP:45540240
complement(3530)-g, adbSNP:183928474
complement(3542)-g, adbSNP:150813402
complement(3622)-g, adbSNP:111943191
complement(3684)-t, gdbSNP:145855459
complement(3688)-g, adbSNP:45552539
complement(3717)-t, cdbSNP:4986763
complement(3750)-c, adbSNP:28997573
complement(3765)-t, cdbSNP:4987050
complement(3770)-g, adbSNP:45603843
complement(3795)-g, adbSNP:144245485
complement(3837)-t, cdbSNP:181186298
complement(3926)-t, adbSNP:139539831
complement(3935)-t, cdbSNP:112214651
complement(4095)-t, cdbSNP:202123733
complement(4133)-c, adbSNP:4988358
complement(4184)-t, cdbSNP:150444311
complement(4188)-t, cdbSNP:143361598
complement(4209)-g, cdbSNP:113345004
complement(4214)-t, cdbSNP:1978111
complement(4221..4222)-, adbSNP:111519368
complement(4228)-g, cdbSNP:111898257
complement(4336)-g, cdbSNP:189935192
complement(4539)-g, adbSNP:7213430
complement(4672)-t, cdbSNP:116292412
complement(4785)-g, adbSNP:137967725
complement(4835)-g, adbSNP:185040281
complement(4931)-t, gdbSNP:193165407
complement(5201..5202)-, gctadbSNP:67558223
complement(5258)-t, adbSNP:113940104
complement(5319)-t, cdbSNP:73991940
complement(5430)-g, adbSNP:59115933
complement(5702)-g, cdbSNP:145338121
complement(5849)-t, adbSNP:190169023
complement(5876)-g, adbSNP:114037902
complement(5924)-c, adbSNP:184666432
complement(5990)-g, adbSNP:192638855
complement(6020)-g, adbSNP:140267868
complement(6138..6141)-, gacadbSNP:10601136
complement(6139..6142)-, ggacdbSNP:201539878
complement(6146)-g, cdbSNP:60657820
complement(6146)-tgtccccag, cccacdbSNP:71354633
complement(6182)-g, adbSNP:72841539
complement(6297)-g, adbSNP:76889595
complement(6594)-t, cdbSNP:150080122
complement(6648)-t, cdbSNP:186580238
complement(6812)-t, cdbSNP:182264505
complement(6854)-t, gdbSNP:76424050
complement(6868..6869)-, cttt, cdbSNP:10637696
complement(6868)-t, cdbSNP:112375062
complement(6870..6871)-, tttdbSNP:10637697
complement(6871..6872)-, ctttdbSNP:35393673
complement(7170)-, a, aaadbSNP:35235448
complement(7358)-c, adbSNP:188292745
complement(7467..7470)-, gtcadbSNP:145439881
complement(7506)-g, adbSNP:74859843
complement(7544)-t, adbSNP:11079454
complement(7545)-g, adbSNP:140891191
complement(7570)-c, adbSNP:10744996
complement(7647)-t, adbSNP:73326602
complement(7811)-t, cdbSNP:183234058
complement(8056)-g, adbSNP:8077553
complement(8096)-t, adbSNP:111580456
complement(8109)-g, adbSNP:191840743
Gene SymbolBRIP1
Gene SynonymBACH1; FANCJ; OF
Chromosome17
Locus Map17q22.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_032043 Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. Full Length Quote
ORF Sequence $1312.50
Title CtIP- and ATR-dependent FANCJ phosphorylation in response to DNA strand breaks mediated by DNA replication .
Author Sakasai,R., Sakai,A., Iimori,M., Kiyonari,S., Matsuoka,K., Kakeji,Y., Kitao,H. and Maehara,Y.
Journal Genes Cells 17 (12), 962-970 (2012)
Title FANCJ expression predicts the response to 5-fluorouracil-based chemotherapy in MLH1-proficient colorectal cancer .
Author Nakanishi,R., Kitao,H., Fujinaka,Y., Yamashita,N., Iimori,M., Tokunaga,E., Yamashita,N., Morita,M., Kakeji,Y. and Maehara,Y.
Journal Ann. Surg. Oncol. 19 (11), 3627-3635 (2012)
Title FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response .
Author Xie,J., Peng,M., Guillemette,S., Quan,S., Maniatis,S., Wu,Y., Venkatesh,A., Shaffer,S.A., Brosh,R.M. Jr. and Cantor,S.B.
Journal PLoS Genet. 8 (7), E1002786 (2012)
Title The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function .
Author Wu,Y., Sommers,J.A., Loiland,J.A., Kitao,H., Kuper,J., Kisker,C. and Brosh,R.M. Jr.
Journal J. Biol. Chem. 287 (26), 21699-21716 (2012)
Title Oncogenic RAS regulates BRIP1 expression to induce dissociation of BRCA1 from chromatin, inhibit DNA repair, and promote senescence .
Author Tu,Z., Aird,K.M., Bitler,B.G., Nicodemus,J.P., Beeharry,N., Xia,B., Yen,T.J. and Zhang,R.
Journal Dev. Cell 21 (6), 1077-1091 (2011)
Title Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals .
Author Rutter,J.L., Smith,A.M., Davila,M.R., Sigurdson,A.J., Giusti,R.M., Pineda,M.A., Doody,M.M., Tucker,M.A., Greene,M.H., Zhang,J. and Struewing,J.P.
Journal Hum. Mutat. 22 (2), 121-128 (2003)
Title No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families .
Author Karppinen,S.M., Vuosku,J., Heikkinen,K., Allinen,M. and Winqvist,R.
Journal Eur. J. Cancer 39 (3), 366-371 (2003)
Title No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22 .
Author Luo,L., Lei,H., Du,Q., von Wachenfeldt,A., Kockum,I., Luthman,H., Vorechovsky,I. and Lindblom,A.
Journal Int. J. Cancer 98 (4), 638-639 (2002)
Title SUVi and BACH1: a new subfamily of mammalian helicases? .
Author Menichini,P. and Linial,M.
Journal Mutat. Res. 487 (1-2), 67-71 (2001)
Title BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function .
Author Cantor,S.B., Bell,D.W., Ganesan,S., Kass,E.M., Drapkin,R., Grossman,S., Wahrer,D.C., Sgroi,D.C., Lane,W.S., Haber,D.A. and Livingston,D.M.
Journal Cell 105 (1), 149-160 (2001)

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