 |
 | Services
| |
 |
Aliases & Descriptions for BRIP1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| BACH1 1, 2, 3, 5 | | EC 3.6.1.- 3 | | FANCJ 1, 2, 3, 5 | | FLJ90232 2 | | MGC126521 2 | | MGC126523 2 | | OF 1, 2 |
| | | Descriptions |
|---|
| ATP-dependent RNA helicase BRIP1 3 | | BRCA1 interacting protein C-terminal helicase 1 2 | | BRCA1-associated C-terminal helicase 1 2, 3 | | BRCA1-binding helicase-like protein BACH1 2 | | BRCA1-interacting protein 1 2, 3 | | BRCA1-interacting protein C-terminal helicase 1 3 | | Protein FACJ 3 |
|
| | Search outside databases for aliases for BRIP1 genePrevious GC identifers: GC17M059523 GC17M062245 GC17M060101 GC17M060234 |
Summaries for BRIP1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for BRIP1: 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] UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Function: 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 |
Genomic Location for BRIP1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the BRIP1 gene 
Entrez Gene cytogenetic band: 17q22-q24 Ensembl cytogenetic band: 17q23.2 HGNC cytogenetic band: 17q22.2BRIP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M057114:
(about GC identifiers)
Start:
|
57,114,767 bp from pter |
End:
|
57,295,537 bp from pter |
Size:
|
180,771 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000017.9 NT_010783.14
| Proteins for BRIP1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63 (See
protein sequence)Recommended Name: Fanconi anemia group J protein Size: 1249 amino acids; 140878 Da
Subunit: Binds directly to the BRCT domains of BRCA1
Subcellular location: Nucleus
PDB structures from and Proteopedia :1T29 (3D)
 
Secondary accessions: Q3MJE2 Q8NCI5Alternative splicing: 2 isoforms: Q9BX63-1 Q9BX63-2 Post-translational modifications:
Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_114432.1
ENSEMBL proteins: ENSP00000259008
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for BRIP1: Assays for BRIP1: | Protein
Domains/ Families for BRIP1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9BX63
ProtoNet protein and cluster: Q9BX63 3 Blocks protein families: IPB002464 ATP-dependent helicase IPB006555 Helicase c2 IPB010614 DEAD_2
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Similarity: Belongs to the DEAD box helicase family. DEAH subfamilySimilarity: Contains 1 helicase ATP-binding domain | Gene Function for BRIP1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032043
Applied Biosystems Silencer® siRNAs for BRIP1
Sigma-Aldrich siRNA and siRNA Panels for BRIP1  Sigma-Aldrich shRNA Panels and shRNA for BRIP1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032043                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_032043                                  untagged cDNA clone in CMV expression vector: NM_032043 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_032043
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Function: 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 BRCA1Enzyme Number (IUBMB): EC 3.6.1.- 5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
): About this table | Pathways & Interactions for BRIP1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for BRIP1 
5/15 Interacting proteins for BRIP1 (ENSP000002590083 Q9BX632) via UniProtKB, MINT, and/or STRING (see all 15
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for BRIP1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for BRIP1
|
Transcripts for BRIP1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032043
Sigma-Aldrich siRNA and siRNA Panels for BRIP1  Sigma-Aldrich shRNA Panels and shRNA for BRIP1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_032043 REFSEQ mRNAs for BRIP1 gene: NM_032043.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_032043               OriGene GFP tagged cDNA clone in CMV expression vector: NM_032043                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_032043                                  untagged cDNA clone in CMV expression vector: NM_032043  Additional cDNA sequence: AF360549.1 AK074713.1 BC101472.1 BC101474.1 5 DOTS entries: DT.97838492 DT.204369 DT.97838493 DT.40130395 DT.92001121 7 AceView cDNA sequences:BX473990 BP352179 BU658463 BQ307287 BF799785 BQ308528 BQ309228
highest scoring ESTs for BRIP1:AF360549 AI218496 BX473990 AI200753 AL135444 AW197766 AW499597 AW500810 BE082523 BE082528 Unigene Cluster for BRIP1: BRCA1 interacting protein C-terminal helicase 1 Hs.532799 [show with all ESTs]Unigene Representative Sequence: AF360549
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for BRIP1
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for BRIP1
1 Ensembl transcript including schematic representation: ENST00000259008
|
Expression for BRIP1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| BRIP1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for BRIP1
1 / 2 / 3 3 probe-sets matching BRIP1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AAATAGAAAT
SOURCE GeneReport for Unigene cluster: Hs.532799 UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Tissue specificity: Ubiquitously expressed, with highest levels in testis |
Orthologs for BRIP1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for BRIP1 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for BRIP1
ENSEMBL Gene Tree for BRIP1 | Paralogs for BRIP1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for BRIP1 gene
- DDX122 DDX112 RTEL12 ERCC22 ENSG000001117882
|
SNPs/Variants for BRIP1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for BRIP1 (up to first 250kb)
|
Disorders & Mutations for BRIP1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 605882 disorders: 114480 609054 UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63
Defects in BRIP1 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer Defects in BRIP1 are the cause of Fanconi anemia complementation group J (FANCJ) [MIM:609054, 227650]. Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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 repair6 Novoseek disease relationships for BRIP1 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fanconis anemia |
84.92 |
8 |
16153896 (2), 18414782 (1), 16357529 (1), 17145708 (1) (see all 5) |
| breast cancer |
59.14 |
34 |
16430786 (5), 18414782 (3), 18628483 (3), 14983014 (3) (see all 12) |
| ovarian cancer |
40.42 |
6 |
12565990 (3), 18628483 (1), 14983014 (1), 16430786 (1) |
| cancer |
30.87 |
1 |
16462773 (1) |
| anemia |
16.68 |
3 |
17768402 (1), 17504528 (1) |
| tumors |
13.00 |
12 |
18345034 (2), 14983014 (2), 18628483 (1), 16462773 (1) (see all 7) |
About this table
GeneTests: BRIP1 Fanconi Anemia Human Gene Mutation Database: BRIP1 Genetic Association Database: BRIP1 Human Genome Epidemiology Navigator: BRIP1 (19 documents)
|
Medical News for BRIP1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for BRIP1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/70 PubMed articles for BRIP1 gene (see all 70
):- BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PubMed id 11301010)1, 2, 3, 4 Cantor S.B....Livingston D.M. (2001)
- The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. (PubMed id 14983014)1, 3, 4 Cantor S.B....Livingston D.M. (2004)
- No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. (PubMed id 12565990)1, 3, 4 Karppinen S.-M.... Winqvist R. (2003)
- BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. (PubMed id 16153896)1, 3, 4 Litman R.... Cantor S.B. (2005)
- Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. (PubMed id 15113441)1, 3, 6 Sigurdson A.J....Struewing J.P. (2004)
- SUVi and BACH1: a new subfamily of mammalian helicases? (PubMed id 11595410)1, 2, 3 Menichini P. and Linial M. (2001)
- The BRCT domain is a phospho-protein binding domain. (PubMed id 14576433)1, 3, 4 Yu X.... Chen J. (2003)
- No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast- cancer families linked to 17q22. (PubMed id 11920628)1, 3, 4 Luo L.... Lindblom A. (2002)
- The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. (PubMed id 16116421)1, 3, 4 Bridge W.L.... Hiom K. (2005)
- The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. (PubMed id 16116424)1, 3, 4 Levran O.... Auerbach A.D. (2005)
|
Search for BRIP1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BRIP1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing BRIP1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BRIP1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for BRIP1 | Genetics and Cytogenetics in Oncology and Haematology | | Fanconi Anemia Mutation Database | http://www.rockefeller.edu/fanconi/mutate/jumpj.html | | GeneReviews | http://www.genetests.org/query?gene=BRIP1 |
|
| | | About This Section
| --
| Services for BRIP1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for BRIP1:

 | |
 | | | | |
|
 |  |  |
| Antibodies & Assays for BRIP1  (bach1) |
| | | | Search Tocris compounds for BRIP1 |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|