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BRIP1 (BRCA1 interacting protein C-terminal helicase 1)

Identity

Other namesBACH1
FANCJ
OF
HGNC (Hugo) BRIP1
LocusID (NCBI) 83990
Location 17q23.2
Location_base_pair Starts at 59756547 and ends at 59940920 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)BRIP1   20473
Cards
Entrez_Gene (NCBI)BRIP1  83990  BRCA1 interacting protein C-terminal helicase 1
GeneCards (Weizmann)BRIP1
Ensembl (Hinxton) [Gene_View]  chr17:59756547-59940920 [Contig_View]  BRIP1 [Vega]
cBioPortalBRIP1
AceView (NCBI)BRIP1
Genatlas (Paris)BRIP1
WikiGenes83990
SOURCE (Princeton)NM_032043
Genomic and cartography
GoldenPath (UCSC)BRIP1  -  17q23.2   chr17:59756547-59940920 -  17q23.2   [Description]    (hg19-Feb_2009)
EnsemblBRIP1 - 17q23.2 [CytoView]
Mapping of homologs : NCBIBRIP1 [Mapview]
OMIM114480   605882   609054   
Gene and transcription
Genbank (Entrez)AF360549 AK074713 BC101472 BC101474 HQ258538
RefSeq transcript (Entrez)NM_032043
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_007409 NT_010783 NW_001838450 NW_004929407
Consensus coding sequences : CCDS (NCBI)BRIP1
Cluster EST : UnigeneHs.128903 [ NCBI ]
CGAP (NCI)Hs.128903
Alternative Splicing : Fast-db (Paris)GSHG0013630
Gene ExpressionBRIP1 [ NCBI-GEO ]     BRIP1 [ SEEK ]   BRIP1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BX63 (Uniprot)
NextProtQ9BX63  [Medical]
With graphics : InterProQ9BX63
Splice isoforms : SwissVarQ9BX63 (Swissvar)
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_2 (PS51193)   
Domains : Interpro (EBI)ATP-dep_Helicase_C [organisation]   DEAD_2 [organisation]   DNA_helicase_DNA-repair_Rad3 [organisation]   Helic_SF1/SF2_ATP-bd_DinG/Rad3 [organisation]   Helicase_ATP-bd [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrQ9BX63
Domain families : Pfam (Sanger)DEAD_2 (PF06733)    Helicase_C_2 (PF13307)   
Domain families : Pfam (NCBI)pfam06733    pfam13307   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc2 (SM00491)  
DMDM Disease mutations83990
Blocks (Seattle)Q9BX63
PDB (SRS)1T15    1T29    3AL3   
PDB (PDBSum)1T15    1T29    3AL3   
PDB (IMB)1T15    1T29    3AL3   
PDB (RSDB)1T15    1T29    3AL3   
Peptide AtlasQ9BX63
HPRD05797
IPIIPI00012500   IPI00514398   
Protein Interaction databases
DIP (DOE-UCLA)Q9BX63
IntAct (EBI)Q9BX63
BioGRIDBRIP1
InParanoidQ9BX63
Interologous Interaction database Q9BX63
IntegromeDBBRIP1
STRING (EMBL)BRIP1
Ontologies - Pathways
Ontology : AmiGODNA damage checkpoint  DNA binding  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleus  cytoplasm  ATP catabolic process  double-strand break repair  regulation of transcription from RNA polymerase II promoter  nuclear membrane  DNA duplex unwinding  DNA duplex unwinding  small molecule metabolic process  metal ion binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIDNA damage checkpoint  DNA binding  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleus  cytoplasm  ATP catabolic process  double-strand break repair  regulation of transcription from RNA polymerase II promoter  nuclear membrane  DNA duplex unwinding  DNA duplex unwinding  small molecule metabolic process  metal ion binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGFanconi anemia pathway   
Protein Interaction DatabaseBRIP1
Wikipedia pathwaysBRIP1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BRIP1
snp3D : Map Gene to Disease83990
SNP (GeneSNP Utah)BRIP1
SNP : HGBaseBRIP1
Genetic variants : HAPMAPBRIP1
Exome VariantBRIP1
1000_GenomesBRIP1 
Cancer Gene: CensusBRIP1 
Somatic Mutations in Cancer : COSMICBRIP1 
CONAN: Copy Number AnalysisBRIP1 
Mutations and Diseases : HGMDBRIP1
Mutations and Diseases : intOGenBRIP1
Genomic VariantsBRIP1  BRIP1 [DGVbeta]
dbVarBRIP1
ClinVarBRIP1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM114480    605882    609054   
MedgenBRIP1
GENETestsBRIP1
Disease Genetic AssociationBRIP1
Huge Navigator BRIP1 [HugePedia]  BRIP1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneBRIP1
Homology/Alignments : Family Browser (UCSC)BRIP1
Phylogenetic Trees/Animal Genes : TreeFamBRIP1
Chemical/Protein Interactions : CTD83990
Chemical/Pharm GKB GenePA134906421
Clinical trialBRIP1
Other databases
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
CoreMineBRIP1
iHOPBRIP1
OncoSearchBRIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:39:56 CEST 2014

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