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BRIP1 BRCA1 interacting protein C-terminal helicase 1 [ Homo sapiens (human) ]

Gene ID: 83990, updated on 11-Sep-2014
Official Symbol
BRIP1provided by HGNC
Official Full Name
BRCA1 interacting protein C-terminal helicase 1provided by HGNC
Primary source
HGNC:HGNC:20473
See related
HPRD:05797; MIM:605882
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OF; BACH1; FANCJ
Summary
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]
See BRIP1 in Epigenomics, MapViewer
Location:
17q22.2
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (61679186..61863559, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59756547..59940920, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene T-box 4 Neighboring gene nascent polypeptide-associated complex alpha subunit 2 Neighboring gene integrator complex subunit 2 Neighboring gene mediator complex subunit 13

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Mutations in BRIP1 confer high risk of ovarian cancer.
NHGRI GWA Catalog
  • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
    Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from ssDNA, followed by the association of RAD51 with BRCA2, formation of RAD52 heptameric ring...
  • Homologous Recombination Repair, organism-specific biosystem (from REACTOME)
    Homologous Recombination Repair, organism-specific biosystemThe HRR pathway is an "error free" DNA repair mechanism that utilizes information encoded by homologous sequence to repair double-strand breaks (DSBs). HRR acts on DSBs occurring within replicated DN...
  • Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystem (from REACTOME)
    Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystemHomologous recombination repair of replication-independent double-strand breaks requires the activation of ATM followed by ATM mediated phosphorylation of DNA repair proteins. DNA repair and signalin...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ90232, MGC126521, MGC126523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity NAS
Non-traceable Author Statement
more info
PubMed 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
DNA damage checkpoint NAS
Non-traceable Author Statement
more info
PubMed 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA duplex unwinding NAS
Non-traceable Author Statement
more info
PubMed 
double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
Fanconi anemia group J protein
Names
Fanconi anemia group J protein
ATP-dependent RNA helicase BRIP1
BRCA1/BRCA2-associated helicase 1
BRCA1-associated C-terminal helicase 1
BRCA1-binding helicase-like protein BACH1
NP_114432.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007409.2 

    Range
    5001..189374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_300

mRNA and Protein(s)

  1. NM_032043.2NP_114432.2  Fanconi anemia group J protein

    See proteins identical to NP_114432.2

    Status: REVIEWED

    Source sequence(s)
    AC002994, AC060798, AF360549
    Consensus CDS
    CCDS11631.1
    UniProtKB/TrEMBL
    A0A024QZ45
    UniProtKB/Swiss-Prot
    Q9BX63
    Conserved Domains (3) summary
    TIGR00604
    Location:245881
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:680865
    Helicase_C_2; Helicase C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    61679186..61863559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    55122899..55306703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    59821037..60005473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)