FANCJ (BRIP1), Fanconi anemia group J protein homolog [nucleoplasm]

Stable Identifier
R-GGA-217207
Type
Protein [EntityWithAccessionedSequence]
Species
Gallus gallus
Compartment
nucleoplasm
Synonyms
EC 3.6.1 ATP-dependent RNA helicase BRIP1, Protein FACJ
Locations in the PathwayBrowser
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General
BRIP1 (also called BACH1) is a DEAH helicase that interacts with BRCT domain of BRCA1. It has an important role in BRCA1-dependent DNA reapir and checkpoint functions. However, the brip1 mutant DT40 cells have phenotype that is more closely resemble fancc mutants with profound sensitivity to DNA-alkylating agents cisplatin and acute cell-cycle arrest in late S-G2 phase. Thus, BRIP1 has a function in the Fanconi anemia pathway that is independent of BRCA1 and downstream of FANCD2 activation.
Literature References
PubMed ID Title Journal Year
16116421 The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair

Hiom, K, Vandenberg, CJ, Bridge, WL, Franklin, RJ

Nat Genet 2005
External Reference Information
External Reference
UniProt:Q3YK19 BRIP1
Gene Names
BRIP1, FANCJ
Chain
chain:1-1252
Reference Genes
BioGPS Gene:417642 BRIP1
ENSEMBL:ENSGALG00000005279 BRIP1
ENSEMBL:ENSGALG00010029319.1 BRIP1
ENSEMBL:ENSGALG00015022583 BRIP1
KEGG Gene (Gallus gallus):417642 BRIP1
Monarch:417642 BRIP1
NCBI Gene:417642 BRIP1
Reference Transcript
Other Identifiers
417642
GO:0000166
GO:0003676
GO:0003677
GO:0003678
GO:0003724
GO:0003824
GO:0004386
GO:0005524
GO:0005634
GO:0005654
GO:0006139
GO:0006281
GO:0006289
GO:0006310
GO:0006974
GO:0016787
GO:0016818
GO:0016887
GO:0022414
GO:0032508
GO:0043226
GO:0046872
GO:0051536
GO:0051539
GO:0140013
GO:0140097
GO:0140098
GO:0140657
GO:1990918
GT_A_87_P009698
GT_A_87_P123238
Gga.17801.1.S1_s_at
GgaAffx.26464.1.S1_at
Other forms of this molecule
phospho-p-S990,Ac-K1249-BRIP1 [nucleoplasm]
Cross References
RefSeq
OpenTargets
Ensembl
PRO
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