| Gene Symbol |
BRIP1
|
| Entrez Gene |
83990
|
| Alt Symbol |
BACH1, FANCJ, OF
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
BRCA1 interacting protein C-terminal helicase 1
|
| Other Description |
ATP-dependent RNA helicase BRIP1|BRCA1-associated C-terminal helicase 1|BRCA1-binding helicase-like protein BACH1|BRCA1/BRCA2-associated helicase 1|Fanconi anemia group J protein
|
| Swissprots |
Q8NCI5 Q9BX63 Q3MJE2
|
| Accessions |
EAW51430 EAW51431 EAW51432 EAW51433 Q9BX63 AF360549 AAK38111 AK074713 BAC11156 BC101472 AAI01473 BC101474 AAI01475 HQ258538 ADR83292 XM_011525332 XP_011523634 XM_011525333 XP_011523635 XM_011525334 XP_011523636 XM_011525335 XP_011523637 XM_011525336 XP_011523638 XM_011525337 XP_011523639 XM_011525338 XP_011523640 XM_011525339 XP_011523641 XM_011525340 XP_011523642 XM_011525341 XP_011523643 NM_032043 NP_114432
|
| Function |
DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014, ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:11301010}.
|
| Tissue Specificity |
Ubiquitously expressed, with highest levels in testis. {ECO:0000269|PubMed:11301010}.
|
| Top Pathways |
Fanconi anemia pathway
|