Homo sapiens Protein: BRIP1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-62609.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | BRIP1 | ||||||||||||||||||||||
Protein Name | BRCA1 interacting protein C-terminal helicase 1 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000259008 | ||||||||||||||||||||||
InnateDB Gene | IDBG-62607 (BRIP1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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:0000269PubMed:11301010, ECO:0000269PubMed:14983014, ECO:0000269PubMed:16116421, ECO:0000269PubMed:16153896}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:11301010}. | ||||||||||||||||||||||
Disease Associations | Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269PubMed:11301010}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Fanconi anemia complementation group J (FANCJ) [MIM:609054]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269PubMed:16116423, ECO:0000269PubMed:16116424, ECO:0000269PubMed:20639400}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitously expressed, with highest levels in testis. {ECO:0000269PubMed:11301010}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR002919
Trypsin Inhibitor-like, cysteine rich domain IPR006554 Helicase-like, DEXD box c2 type IPR006555 ATP-dependent helicase, C-terminal IPR010614 DEAD2 IPR011545 DEAD/DEAH box helicase domain IPR013020 DNA helicase (DNA repair), Rad3 type IPR014001 Helicase, superfamily 1/2, ATP-binding domain IPR014013 Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF01826
PF13307 PF06733 PF00270 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00488
SM00491 SM00487 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9BX63 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9BX63 | ||||||||||||||||||||||
TrEMBL | J3KS24 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 83990 | ||||||||||||||||||||||
UniGene | Hs.128903 | ||||||||||||||||||||||
RefSeq | NP_114432 | ||||||||||||||||||||||
HUGO | HGNC:20473 | ||||||||||||||||||||||
OMIM | 605882 | ||||||||||||||||||||||
CCDS | CCDS11631 | ||||||||||||||||||||||
HPRD | 05797 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC002994 AC005969 AC060798 AF360549 AK074713 BC101472 BC101474 CH471179 | ||||||||||||||||||||||
GenPept | AAI01473 AAI01475 AAK38111 BAC11156 EAW51430 EAW51431 EAW51432 EAW51433 | ||||||||||||||||||||||