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  3. BRIP1

BRIP1 (BRCA1 interacting protein C-terminal helicase 1)

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Summary of BRIP1

BRIP1 encodes a protein required for the maintenance of chromosomal stability. It helps repair DNA double-strand breaks (R). 

Mutations of this gene can cause increase in cancer risk (R). 

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The Function of BRIP1

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.

Protein names

Recommended name:

Fanconi anemia group J protein

Alternative name(s):

Protein FACJ
ATP-dependent RNA helicase BRIP1
BRCA1-associated C-terminal helicase 1
BRCA1-interacting protein C-terminal helicase 1
BRCA1-interacting protein 1

BRIP1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS12453935 (BRIP1) ??
  2. RS2048718 (BRIP1) ??
  3. RS2191249 (BRIP1) ??
  4. RS34289250 (BRIP1) ??
  5. RS4968451 (BRIP1) ??
  6. RS4986763 (BRIP1) ??
  7. RS4986764 (BRIP1) ??
  8. RS4988345 (BRIP1) ??
  9. RS6504074 (BRIP1) ??

Top Gene-Substance Interactions

Substances That Increase BRIP1

Substances Interaction Organism Category

Substances That Decrease BRIP1

Substances Interaction Organism Category

Advanced Summary

BRIP1 GENE - BRCA1 (Breast Cancer 1) Interacting Protein C-terminal (BRIP1) Gene

BRIP1, also known as BACH1 (BRCA1-associated C-terminal Helicase-1) or FANCJ (Fanconi Anemia Complementation Group J), is a member of the helicase family [1]. Helicases are necessary for numerous processes involving DNA [2].The role of DNA helicases has been directly linked to diseases in humans [3].

The BRIP1 DNA helicase binds with BRCA1 to form a complex which checks for DNA damage. These checks allow for the repair of DNA breaks, control gene stability and help to prevent tumors [1,3]. BACH1 (BRIP1) mutations have been shown to prevent DNA repair by inhibiting helicase activity [3,4] . DNA repair is necessary to regulate normal cell growth [1]. These disruptions are linked to several types of cancer including breast, ovarian and cervical [1].

Mutations in BRIP1 also lead to the development of Fanconi Anemia (FA). FA is an instability in genes which results in developmental abnormalities, bone marrow failure, solid tumors and a predisposition to cancer [1].

Changes in BRIP1 gene significantly increase a woman’s chances of developing ovarian cancer. The risk of female breast cancer increases by 12.5% over a lifetime. However the mutation causes no known cancer risks in men [5].

     Covered on Genetics Home Reference: Fanconi anemiaovarian cancerbreast cancerFrom NCBI Gene: Tracheoesophageal fistulaFanconi anemia, complementation group JFamilial cancer of breastFrom UniProt: Breast cancer (BC): 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. [MIM:114480] Fanconi anemia complementation group J (FANCJ): 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. [MIM:609054]

     From NCBI Gene: 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] From UniProt: 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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • CUTL1
  • NF-kappaB1
  • C/EBPalpha
  • MRF-2
  • Meis-1
  • NF-kappaB2

Tissue specificity:

Ubiquitously expressed, with highest levels in testis.

Gene Pathways:

  • Metabolism
  • DNA replication and repair

Cofactor:

Binds 1 [4Fe-4S] cluster.

Molecular Function:

  • Structural Constituent Of Ribosome
  • 4 Iron, 4 Sulfur Cluster Binding
  • Atp Binding
  • Atp-Dependent Dna Helicase Activity
  • Dna Binding
  • Metal Ion Binding

Biological Processes:

  • Mitochondrial Translational Elongation
  • Mitochondrial Translational Termination
  • Ribosome Biogenesis
  • Translation
  • Cellular Response To Vitamin
  • Dna Damage Checkpoint
  • Dna Replication
  • Dna Synthesis Involved In Dna Repair
  • Double-Strand Break Repair
  • Negative Regulation Of Cell Proliferation
  • Regulation Of Signal Transduction By P53 Class Mediator
  • Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Strand Displacement
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_11711| AS27_13517| AS28_07138| ATP-dependent RNA helicase BRIP1| BACH1| BRCA1-associated C-terminal helicase 1| BRCA1-binding helicase-like protein BACH1| BRCA1/BRCA2-associated helicase 1| CB1_000306001| complementation group J| D623_10031055| FACJ| Fancj| Fanconi anemia group J protein| Fanconi anemia group J protein homolog| Fanconi anemia group J protein-like| Fanconi anemia group J protein like protein| Fanconi anemia J| GW7_10128| H920_06422| M959_13477| MDA_GLEAN10012246| N300_11149| N301_15371| N302_07695| N303_14575| N305_15193| N307_14164| N308_07016| N309_03493| N310_08260| N311_10988| N320_09214| N321_12615| N322_04474| N324_11992| N325_09970| N326_09551| N327_07393| N328_01132| N329_03879| N330_05812| N331_00625| N335_09345| N336_05842| N339_01208| N340_04449| N341_01321| OF| PAL_GLEAN10019808| PANDA_013720| TREES_T100001336| UY3_05005| Y1Q_003956| Y956_06534| Z169_00825| brip1

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