BRIP1 Gene
protein-coding GIFtS: 68
GCID: GC17M059759
|
|
BRCA1 interacting protein C-terminal helicase 1
| |
Aliases
for BRIP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| BRCA1 Interacting Protein C-Terminal Helicase 11 2 | | BRCA1/BRCA2-Associated Helicase 12 | | BACH11 2 3 5 | | Fanconi Anemia Group J Protein2 | | FANCJ1 2 3 5 | | EC 3.6.4.133 | | OF1 2 | | BRCA1-Interacting Protein 13 | | ATP-Dependent RNA Helicase BRIP12 3 | | BRCA1-Interacting Protein C-Terminal Helicase 13 | | BRCA1-Associated C-Terminal Helicase 12 3 | | Protein FACJ3 | | BRCA1-Binding Helicase-Like Protein BACH12 | | EC 3.6.18 |
Export aliases for BRIP1 gene to outside databasesPrevious GC identifers: GC17M059523 GC17M062245 GC17M060101 GC17M060234 GC17M057114 GC17M055122 |
Summaries
for BRIP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BRIP1:
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats ofbreast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function ofbreast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Function: DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Actslate in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks byhomologous recombination in a manner that depends on its association with BRCA1
Gene Wiki entry for BRIP1
|
Genomic Views
for BRIP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BRIP1 gene promoter:
RP58 ATF-2 Cdc5 HNF-1A HNF-1 FOXJ2 (long isoform) Sox9 FOXJ2
Other transcription factors
Search SABiosciences Chromatin IP Primers for BRIP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRIP1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q22.2 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 information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M059759: view genomic region
(about GC identifiers)
Start:
|
59,756,547 bp from pter |
End:
|
59,940,920 bp from pter |
Size:
|
184,374 bases |
Orientation:
|
minus strand |
|
Proteins
for BRIP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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
Cofactor: Binds 1 4Fe-4S cluster
Subunit: Binds directly to the BRCT domains of BRCA1
Subcellular location: Nucleus
Sequence caution: Sequence=BAC11156.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from  and Proteopedia  for BRIP1:1T29 (3D)
3AL3 (3D)
Secondary accessions: Q3MJE2 Q8NCI5Alternative splicing: 2 isoforms: Q9BX63-1 Q9BX63-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for BRIP1: NX_Q9BX63
Post-translational modifications:
Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BX63
2 DME Specific Peptides for BRIP1 (Q9BX63)
BRIP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_114432.2
ENSEMBL proteins: ENSP00000259008 ENSP00000464654 ENSP00000463272 ENSP00000463827 ENSP00000462274 Reactome Protein details: Q9BX63
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
BRIP1 for ontologies About GeneDecksing
BRIP1 Antibody Products:
Assay Products for BRIP1: |
Protein
Domains /
Families
for BRIP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BRIP1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BX63ProtoNet protein and cluster: Q9BX63 3 Blocks protein families: IPB002464 ATP-dependent helicase IPB006555 Helicase c2 IPB010614 DEAD_2
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Domain: 4Fe-4S iron-sulfur-binding is required for helicase activity (PubMed:20639400)Similarity: Belongs to the DEAD box helicase family. DEAH subfamilySimilarity: Contains 1 helicase ATP-binding domain |
Function
for BRIP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Function: DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Actslate in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks byhomologous recombination in a manner that depends on its association with BRCA1Catalytic activity: ATP + H(2)O = ADP + phosphateEnzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRIP1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRIP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BRIP1 (NM_032043) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BRIP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRIP1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRIP1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
BRIP1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for BRIP1:
|
Pathways & Interactions
for BRIP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytosolic Iron-sulfur Cluster Assembly | | | 2 | Formation of RNA Pol II elongation complex | | | 3 | Cell Cycle / Checkpoint Control | | | 4 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for BRIP1
1 
Cell Signaling Technology (CST) Pathway for BRIP1
1  GeneGo (Thomson Reuters) Pathway for BRIP1
3 
Reactome Pathways for BRIP1
BRIP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRIP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
5/13 Interacting proteins for BRIP1 (Q9BX631, 2, 3 ENSP000002590084) via UniProtKB, MINT, STRING, and/or I2D (see all 13)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| BRCA1 | P383981, 2, 3, ENSP000003502834 | EBI-3509650,EBI-349905 MINT-19306 MINT-19307 MINT-5115454 MINT-19369 MINT-5115319 MINT-5115375 MINT-5115552 MINT-19368 MINT-5115303 MINT-5115348 MINT-8141011 MINT-8140834 MINT-8140990 I2D:
score=4 STRING: ENSP00000350283 | | BLM | P541322, 3, ENSP000003472324 | MINT-8140896 MINT-8140932 MINT-8140908 MINT-8140923 MINT-8141084 MINT-8141063 MINT-8140879 MINT-8151233 MINT-8140957 MINT-8140977 MINT-8151248 MINT-8141011 MINT-8141100 MINT-8140943 MINT-8141074 MINT-8140834 I2D:
score=2 STRING: ENSP00000347232 | | MLH1 | P406922, 3, ENSP000002317904 | MINT-5115529 MINT-5115470 MINT-5115499 MINT-5115319 MINT-5115375 MINT-5115489 MINT-5115552 MINT-5115348 MINT-5115512 MINT-5115404 MINT-5115429 I2D:
score=2 STRING: ENSP00000231790 | | PMS2 | P542782, 3, ENSP000002658494 | MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 I2D:
score=1 STRING: ENSP00000265849 | | FAM175A | Q6UWZ73, ENSP000003698574 | I2D:
score=1 STRING: ENSP00000369857 |
About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
BRIP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BRIP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BRIP1
Search CenterWatch for drugs/clinical trials and news about BRIP1 / FANCJ
|
Transcripts
for BRIP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BRIP1 gene: NM_032043.2 Unigene Cluster for BRIP1: BRCA1 interacting protein C-terminal helicase 1 Hs.128903 [show with all ESTs]Unigene Representative Sequence: NM_0320436 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000259008(uc002izk.2) ENST00000577598(uc002izl.1) ENST00000584322
ENST00000583837 ENST00000579028 ENST00000577913
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRIP1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRIP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BRIP1 (NM_032043) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BRIP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRIP1 |
Additional cDNA sequence: AF360549.1 AK074713.1 BC101472.1 BC101474.1 6 DOTS entries: DT.97838492 DT.106537 DT.204369 DT.97838493 DT.92001121 DT.40130395 7 AceView cDNA sequences: BX473990 BP352179 BU658463 BQ307287 BF799785 BQ308528 BQ309228
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for BRIP1 About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for BRIP1
|
Expression
for BRIP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BRIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATAGAAAT
About this image
See BRIP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BRIP1
SOURCE GeneReport for Unigene cluster: Hs.128903
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63Tissue specificity: Ubiquitously expressed, with highest levels in testis
SABiosciences Expression via Pathway-Focused PCR Arrays including BRIP1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRIP1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BRIP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRIP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRIP1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRIP1 |
Orthologs
for BRIP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for BRIP1 gene from 8/26 species (see all 26) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
BRIP11 |
BRCA1 interacting protein C-terminal helicase 1 |
64.57(n)
57.43(a) |
|
417642 NM_001033058.1 NP_001028230.1 |
lizard
(Anolis carolinensis) |
Reptilia |
BRIP16 |
-- |
79(a) |
1 ↔ 1 |
GL343932.1(82011-107943) |
African clawed frog
(Xenopus laevis) |
Amphibia |
MGC686222 |
hypothetical protein MGC68622 |
74.81(n) |
|
BC060014.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.154422 |
Transcribed sequence with weak similarity to protein more |
75.4(n) |
|
BM315855.1 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
31(a) |
1 ↔ 1 |
Group7.32(302821-363954) |
worm
(Caenorhabditis elegans) |
Secernentea |
dog-11 , 3 |
Protein DOG-11 |
31(a)3
47.91(n)1
36.12(a)1 |
|
I(15025514-15031021)3
1733701 NM_061217.41 NP_493618.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G207206AT1G207506 |
RAD3-like DNA-binding helicase protein |
27(a)26(a) |
1 ↔ many1 ↔ many |
1(7185658-7192794) 1(7203302-7208998) |
rice
(Oryza sativa) |
Liliopsida |
-- |
helicase, putative, expressed |
22(a) |
1 ↔ 1 |
9(21859936-21867685) |
ENSEMBL Gene Tree for BRIP1 (if available)
TreeFam Gene Tree for BRIP1 (if available) |
Paralogs
for BRIP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BRIP1 gene
- DDX112 RTEL12 RTEL1-TNFRSF6B2
2 SIMAP similar genes for BRIP1 using alignment to 5 protein entries: FANCJ_HUMAN (see all proteins):CHLR1 ERCC2
BRIP1 for paralogs About GeneDecksing
|
Genomic Variants
for BRIP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BRIP1 (59756547 - 59940920 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for BRIP1
2 CNVs: 102502 102501
2 Indels: 60241 60242
Human Gene Mutation Database (HGMD): BRIP1
Locus Specific Mutation Databases (LSDB): BRIP1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRIP1 |
|
Disorders
/ Diseases
for BRIP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BRIP1 for disorders About GeneDecksing
OMIM gene information: 605882
OMIM disorders: 114480 609054
UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63
Defects in BRIP1 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. A common malignancyoriginating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasiveductal 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 thanone locus can be involved in different families or even in the same case Defects in BRIP1 are the cause of Fanconi anemia complementation group J (FANCJ) [MIM:609054]. It is adisorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associatedwith cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development ofmalignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomalinstability (increased chromosome breakage) and defective DNA repair
20/31  diseases for BRIP1 (see all 31): About MalaCardsfanconi's anemia fanconi anemia, complementation group j breast cancer breast cancer, early-onset
anemia photosensitive trichthiodystrophy acoustic neuroma xeroderma pigmentosum
neuroma breast cancer susceptibility sporadic breast cancer bloom syndrome
breast-ovarian cancer ovarian cancer male breast cancer epithelial ovarian cancer
cockayne syndrome familial breast cancer squamous cell carcinoma leukopenia
4 diseases from the University of Copenhagen DISEASES database for BRIP1:Bone marrow disease Anemia Photosensitive trichothiodystrophy Breast cancer 6 Novoseek disease relationships for BRIP1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fanconis anemia |
88.1 |
10 |
16153896 (2), 18414782 (1), 16357529 (1), 17596542 (1) (see all 7) |
| breast cancer |
60.7 |
40 |
16430786 (5), 18414782 (3), 14983014 (3), 18628483 (3) (see all 16) |
| ovarian cancer |
40.8 |
7 |
12565990 (3), 18628483 (1), 14983014 (1), 19935797 (1) (see all 5) |
| cancer |
34.3 |
2 |
20173781 (1), 16462773 (1) |
| anemia |
20.6 |
5 |
17768402 (1), 17504528 (1), 19935797 (1) |
| tumors |
18 |
14 |
18345034 (2), 14983014 (2), 18628483 (1), 16462773 (1) (see all 8) |
GeneTests: BRIP1
Fanconi Anemia
Genetic Association Database (GAD): BRIP1
Human Genome Epidemiology (HuGE) Navigator: BRIP1 (38 documents)
Export disorders for BRIP1 gene to outside databases
|
Publications
for BRIP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BRIP1 gene, integrated from 9 sources (see all 126):
(articles sorted by number of sources associating them with BRIP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PubMed id 11301010)1, 2, 3, 9 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, 2, 9 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, 2, 9 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, 2, 9 Litman R.... Cantor S.B. (2005)
- Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. (PubMed id 15125843)1, 2, 9 Shiozaki E.N....Shi Y. (2004)
- 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, 4, 9 Sigurdson A.J....Struewing J.P. (2004)
- SUVi and BACH1: a new subfamily of mammalian helicases? (PubMed id 11595410)1, 3, 9 Menichini P. and Linial M. (2001)
- The BRCT domain is a phospho-protein binding domain. (PubMed id 14576433)1, 2, 9 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, 2, 9 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, 2, 9 Bridge W.L.... Hiom K. (2005)
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External Searches for BRIP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing BRIP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing BRIP1 gene
(According to HUGE)
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Specialized Databases showing BRIP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BRIP1 | Pharmacogenomics, SNPs, Pathways | | 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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRIP1 |
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About This Section
| Patent Information for BRIP1 gene:
Search GeneIP for patents involving BRIP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for BRIP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for BRIP1 | | OriGene shRNA RFP for BRIP1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BRIP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRIP1 | | | OriGene Protein Over-expression Lysate for BRIP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BRIP1 | | OriGene 3'-UTR Clone for BRIP1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRIP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRIP1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for BRIP1 | | OriGene Custom Protein Services for BRIP1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BRIP1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRIP1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRIP1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRIP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRIP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRIP1 |
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| | | | Search Tocris compounds for BRIP1 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRIP1 |
|  |  |  | | | | ThermoFisher Antibodies for BRIP1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRIP1 |
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