Fanconi anemia group J protein

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Fanconi anemia group J protein

Existing structure data : 1T15 , 1T29 , 3AL3

Properties of human protein
Mass / length primary structure 1249 amino acids
Cofactor BRCA1
Isoforms 2
Identifier
Gene names BRIP1 BACH1; FANCJ; OF
External IDs
Enzyme classification
EC, category 3.6.1. ,  Helicase
Occurrence
Homology family ATP-dependent helicase
Parent taxon Eukaryotes
Orthologue
human House mouse
Entrez 83990 237911
Ensemble ENSG00000136492 ENSMUSG00000034329
UniProt Q9BX63 Q5SXJ3
Refseq (mRNA) NM_032043 NM_178309
Refseq (protein) NP_114432 NP_840094
Gene locus Chr 17: 61.68 - 61.86 Mb Chr 11: 86.06 - 86.2 Mb
PubMed search 83990 237911

The Fanconi anemia group J protein (FANCJ) ( gene name: BRIP1 ) is an enzyme in eukaryotes that is able to repair double-stranded DNA through homologous recombination . It can only be found in the cell nucleus . In humans, most of the FANCJ is produced in the testes . Mutations in the BRIP1 gene can lead to FANCJ deficiency and this to a hereditary increased risk of breast cancer or the rare Fanconi anemia .

FANCJ is part of the RecQ DEAH helicase family . It interacts with the BRCT units of the BRCA1 protein . The resulting binding complex has an important function in the repair of genetic defects. It opens the strands of the DNA double helix .

In humans, the BRIP1 gene is located on chromosome 17 , gene locus q23.2. BRCA1 is on the same chromosome .

Discovery and Function

The BRIP1 gene was first discovered in the extremely rare Fanconi anemia . If both copies of the gene are mutated, this leads to a breakdown of the blood-forming system in the bone marrow and an increased risk of cancer.

In 2006 the British Institute of Cancer Research examined 1212 breast cancer patients without the BRCA1 mutation. Of these, nine (= 0.74%) carried a BRIP1 mutation. In a comparison group of 2081 healthy women, only two (= 0.1%) had the BRIP1 mutation. Due to the mutation, the protein encoded in the BRIP1 gene is obviously no longer able to repair DNA damage. As a result, the likelihood of developing breast cancer increases. It is estimated that women with a mutation in the BRIP1 gene are twice as likely to develop breast cancer.

Individual evidence

  1. ↑ UniProt Q9BX63
  2. ↑ UCSC Genome Browser on Human Mar. 2006 Assembly: chr17: 57,114,767-57,295,537 , accessed April 5, 2008
  3. ^ University of Würzburg: New findings on the hereditary disease Fanconi anemia. , Press Release No. 056/2005 of September 8, 2005.
  4. ↑ O. Levran include: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. In: Nature Genetics , 37/2005, pp. 931-33.
  5. ↑ Gene mutation doubles breast cancer risk. In: Der Spiegel , October 9, 2006

literature

  • R. Litmann et al .: BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. In: Cancer Cell , 8/2005, pp. 255-65. PMID 16153896
  • SB Cantor, PR Andreassen: Assessing the link between BACH1 and BRCA1 in the FA pathway. In: Cell Cycle , 5/2006, pp. 164-7. PMID 16357529
  • M. Peng et al: BACH1 is a DNA repair protein supporting BRCA1 damage response. In: Oncogene , 25/2006, pp. 2245-53. PMID 16462773
  • E. Kumaraswamy, R. Shiekhattar: Activation of BRCA1 / BRCA2-associated helicase BACH1 is required for timely progression through S phase. In: Mol Cell Biol , 27/2007, pp. 6733-41. PMID 17664283
  • G. Eelen et al .: Expression of the BRCA1-interacting protein Brip1 / BACH1 / FANCJ is driven by E2F and correlates with human breast cancer malignancy. In: Oncogene , 2008. PMID 18345034
  • B. Frank et al: BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. In: BMC Cancer , 7/2007, p. 83, PMID 17504528

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