InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BRIP1

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.

Experimentally validated
Total	32 [view]
Protein-Protein	28 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008026	ATP-dependent helicase activity
GO:0016817	hydrolase activity, acting on acid anhydrides
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0046872	metal ion binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0000077	DNA damage checkpoint
GO:0006139	nucleobase-containing compound metabolic process
GO:0006200	ATP catabolic process
GO:0006302	double-strand break repair
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0008152	metabolic process
GO:0032508	DNA duplex unwinding
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0031965	nuclear membrane

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

PFAM

PF01826
PF13307
PF06733
PF00270

PRINTS

PIRSF

SMART

SM00488
SM00491
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9BX63