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Aliases for BRIP1 Gene

Aliases for BRIP1 Gene

  • BRCA1 Interacting Protein C-Terminal Helicase 1 2 3
  • BACH1 3 4 6
  • FANCJ 3 4 6
  • BRCA1-Associated C-Terminal Helicase 1 3 4
  • BRCA1/BRCA2-Associated Helicase 1 2 3
  • ATP-Dependent RNA Helicase BRIP1 3 4
  • BRCA1-Interacting Protein C-Terminal Helicase 1 4
  • BRCA1-Binding Helicase-Like Protein BACH1 3
  • Fanconi Anemia Group J Protein 3
  • BRCA1-Interacting Protein 1 4
  • Protein FACJ 4
  • EC 3.6.4.13 4
  • EC 3.6.1 64
  • OF 3

External Ids for BRIP1 Gene

Summaries for BRIP1 Gene

Entrez Gene Summary for BRIP1 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]

GeneCards Summary for BRIP1 Gene

BRIP1 (BRCA1 Interacting Protein C-Terminal Helicase 1) is a Protein Coding gene. Diseases associated with BRIP1 include fanconi anemia, complementation group j and brip1-related breast cancer. Among its related pathways are Cell Cycle / Checkpoint Control and Metabolism. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and ATP-dependent DNA helicase activity. An important paralog of this gene is RTEL1.

UniProtKB/Swiss-Prot for BRIP1 Gene

  • 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.

Gene Wiki entry for BRIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRIP1 Gene

Genomics for BRIP1 Gene

Genomic Location for BRIP1 Gene

Start:
61,679,186 bp from pter
End:
61,863,559 bp from pter
Size:
184,374 bases
Orientation:
Minus strand

Genomic View for BRIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BRIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRIP1 Gene

Regulatory Elements for BRIP1 Gene

Proteins for BRIP1 Gene

  • Protein details for BRIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX63-FANCJ_HUMAN
    Recommended name:
    Fanconi anemia group J protein
    Protein Accession:
    Q9BX63
    Secondary Accessions:
    • Q3MJE2
    • Q8NCI5

    Protein attributes for BRIP1 Gene

    Size:
    1249 amino acids
    Molecular mass:
    140878 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • Binds directly to the BRCT domains of BRCA1.
    SequenceCaution:
    • Sequence=BAC11156.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRIP1 Gene

    Alternative splice isoforms for BRIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRIP1 Gene

Proteomics data for BRIP1 Gene at MOPED

Selected DME Specific Peptides for BRIP1 Gene

Post-translational modifications for BRIP1 Gene

  • Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.
  • Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys862

Other Protein References for BRIP1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for BRIP1 Gene

Gene Families for BRIP1 Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

UniProtKB/Swiss-Prot:

FANCJ_HUMAN
Domain:
  • 4Fe-4S iron-sulfur-binding is required for helicase activity.:
    • Q9BX63
  • Contains 1 helicase ATP-binding domain.:
    • Q9BX63
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily.:
    • Q9BX63
genes like me logo Genes that share domains with BRIP1: view

Function for BRIP1 Gene

Molecular function for BRIP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for BRIP1 Gene

Gene Ontology (GO) - Molecular Function for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding NAS 15878853
GO:0004003 ATP-dependent DNA helicase activity NAS 11301010
GO:0005515 protein binding IPI 11301010
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with BRIP1: view

Phenotypes for BRIP1 Gene

genes like me logo Genes that share phenotypes with BRIP1: view

miRNA for BRIP1 Gene

Transcription Factor Targeting for BRIP1 Gene

Selected GeneGlobe predicted Target genes for BRIP1

No data available for Animal Models and HOMER Transcription for BRIP1 Gene

Localization for BRIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRIP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRIP1 Gene COMPARTMENTS Subcellular localization image for BRIP1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11301010
GO:0005737 cytoplasm IDA 14504288
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with BRIP1: view

Pathways for BRIP1 Gene

genes like me logo Genes that share pathways with BRIP1: view

Pathways by source for BRIP1 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for BRIP1 Gene
1 Qiagen pathway for BRIP1 Gene
2 Cell Signaling Technology pathways for BRIP1 Gene

Gene Ontology (GO) - Biological Process for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint NAS 14576433
GO:0006139 nucleobase-containing compound metabolic process --
GO:0006200 obsolete ATP catabolic process --
GO:0006302 double-strand break repair NAS 11301010
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 14504288
genes like me logo Genes that share ontologies with BRIP1: view

Transcripts for BRIP1 Gene

mRNA/cDNA for BRIP1 Gene

(11) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BRIP1 Gene

BRCA1 interacting protein C-terminal helicase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BRIP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1: - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for BRIP1 Gene

GeneLoc Exon Structure for
BRIP1
ECgene alternative splicing isoforms for
BRIP1

Expression for BRIP1 Gene

mRNA expression in normal human tissues for BRIP1 Gene

mRNA differential expression in normal tissues according to GTEx for BRIP1 Gene

This gene is overexpressed in Testis (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BRIP1 Gene

SOURCE GeneReport for Unigene cluster for BRIP1 Gene Hs.128903

mRNA Expression by UniProt/SwissProt for BRIP1 Gene

Q9BX63-FANCJ_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in testis.
genes like me logo Genes that share expressions with BRIP1: view

Orthologs for BRIP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRIP1 36
  • 99.6 (n)
  • 99.6 (a)
BRIP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRIP1 36
  • 87.39 (n)
  • 81.49 (a)
BRIP1 37
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRIP1 36
  • 88.52 (n)
  • 83.91 (a)
BRIP1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brip1 36
  • 80.73 (n)
  • 75.37 (a)
Brip1 16
Brip1 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRIP1 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRIP1 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brip1 36
  • 80.08 (n)
  • 74.96 (a)
chicken
(Gallus gallus)
Aves BRIP1 36
  • 64.51 (n)
  • 57.74 (a)
BRIP1 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRIP1 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68622 36
tropical clawed frog
(Silurana tropicalis)
Amphibia brip1 36
  • 61.68 (n)
  • 59.17 (a)
zebrafish
(Danio rerio)
Actinopterygii brip1 36
  • 62.34 (n)
  • 63.36 (a)
brip1 37
  • 47 (a)
OneToOne
Dr.15442 36
fruit fly
(Drosophila melanogaster)
Insecta CG4078 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea dog-1 37
  • 25 (a)
OneToOne
dog-1 38
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 37
  • 23 (a)
OneToMany
Species with no ortholog for BRIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BRIP1 Gene

ENSEMBL:
Gene Tree for BRIP1 (if available)
TreeFam:
Gene Tree for BRIP1 (if available)

Paralogs for BRIP1 Gene

Paralogs for BRIP1 Gene

Selected SIMAP similar genes for BRIP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with BRIP1: view

Variants for BRIP1 Gene

Sequence variations from dbSNP and Humsavar for BRIP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs717961 -- 61,727,119(+) CCTAC(G/T)TCTAC intron-variant
rs717962 -- 61,726,949(+) AGCCC(A/G)ATAAC intron-variant
rs991378 -- 61,812,353(-) GGAGA(A/C)AAGGA intron-variant
rs1015771 -- 61,773,163(+) CAATT(A/G)AAAAG intron-variant
rs1468577 -- 61,793,256(-) TATTT(C/T)GTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BRIP1 Gene

Variant ID Type Subtype PubMed ID
nsv908673 CNV Loss 21882294
esv259676 OTHER Complex 20981092
esv7670 CNV Gain 19470904
esv9358 CNV Gain 19470904
nsv908674 CNV Loss 21882294
esv2489612 CNV Deletion 19546169
nsv908675 CNV Loss 21882294
esv2576756 CNV Deletion 19546169

Relevant External Links for BRIP1 Gene

HapMap Linkage Disequilibrium report
BRIP1
Human Gene Mutation Database (HGMD)
BRIP1
Locus Specific Mutation Databases (LSDB)
BRIP1

Disorders for BRIP1 Gene

(2) OMIM Diseases for BRIP1 Gene (605882)

UniProtKB/Swiss-Prot

FANCJ_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed:16116423, ECO:0000269 PubMed:16116424, ECO:0000269 PubMed:20639400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for BRIP1 Gene

(6) Novoseek inferred disease relationships for BRIP1 Gene

Disease -log(P) Hits PubMed IDs
fanconis anemia 88.1 8
breast cancer 60.7 27
ovarian cancer 40.8 7
cancer 34.3 2
anemia 20.6 3

Relevant External Links for BRIP1

GeneTests
BRIP1
GeneReviews
BRIP1
Genetic Association Database (GAD)
BRIP1
Human Genome Epidemiology (HuGE) Navigator
BRIP1
genes like me logo Genes that share disorders with BRIP1: view

Publications for BRIP1 Gene

  1. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PMID: 11301010) Cantor S.B. … Livingston D.M. (Cell 2001) 2 3 4 23
  2. SUVi and BACH1: a new subfamily of mammalian helicases? (PMID: 11595410) Menichini P. … Linial M. (Mutat. Res. 2001) 2 3 23
  3. No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast- cancer families linked to 17q22. (PMID: 11920628) Luo L. … Lindblom A. (Int. J. Cancer 2002) 3 4 23
  4. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. (PMID: 12565990) Karppinen S.-M. … Winqvist R. (Eur. J. Cancer 2003) 3 4 23
  5. The BRCT domain is a phospho-protein binding domain. (PMID: 14576433) Yu X. … Chen J. (Science 2003) 3 4 23

Products for BRIP1 Gene

  • Addgene plasmids for BRIP1

Sources for BRIP1 Gene

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