BRIP1 (NM_032043) - BRCA1 interacting protein C-terminal helicase 1

Fanconi Anemia Group J Protein

Mutations Visualisation

Protein summary

This is preferred isoform of BRIP1 protein.
BRIP1: Fanconi anemia group J protein
Description:

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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: AF360549.1, BC101472.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]

Strand
-
Chromosome
17
Protein
1249 residues
All mutations
455
PTM sites
46
CDS
59,760,656 - 59,938,900
Transcription
59,756,546 - 59,940,920
40.67% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 83990
Uniprot
Ensembl