BRIP1

Protein identityUniProt · HPA

UniProt accession

Q9BX63

Gene

BRIP1

Ensembl

ENSG00000136492

Chromosome

17

Canonical length

1249 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1249 residues, UniProt reviewed canonical sequence.

>Q9BX63|BRIP1
     1  MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
    61  LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
   121  TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
   181  HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
   241  SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
   301  LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
   361  DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
   421  ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
   481  GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
   541  NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
   601  SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
   661  CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
   721  KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
   781  TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
   841  ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
   901  NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
   961  SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
  1021  PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
  1081  ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
  1141  DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
  1201  IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BRIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

3.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BRIP1.

Disease | AllUniProt

Conditions BRIP1 is implicated in, by any mechanism.

• Breast cancer (BC) MIM:114480
• Fanconi anemia complementation group J (FANCJ) MIM:609054

Disease | GeneticClinVar

898 pathogenic / likely-pathogenic of 6,406 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Familial cancer of breast
• Fanconi anemia complementation group J
• Hereditary cancer-predisposing syndrome
• Ovarian cancer
• Familial ovarian cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.79

gnomAD pLI

0

gnomAD missense Z

1.2

DepMap mean gene effect

-0.33

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chiasma assembly
• DNA damage checkpoint signaling
• DNA repair
• double-strand break repair
• double-strand break repair involved in meiotic recombination
• homologous recombination
• meiotic DNA double-strand break processing involved in reciprocal meiotic recombination
• nucleotide-excision repair
• protein-DNA covalent cross-linking repair
• regulation of transcription by RNA polymerase II
• seminiferous tubule development
• spermatid development
• spermatogonial cell division

Molecular functions

• 4 iron, 4 sulfur cluster binding
• 5'-3' DNA helicase activity
• ATP binding
• ATP hydrolysis activity
• catalytic activity, acting on a nucleic acid
• DNA binding
• DNA helicase activity
• metal ion binding

Cellular components

• BRCA1-B complex
• cytoplasm
• nuclear membrane
• nucleoplasm
• nucleus
• replication fork

Protein domainsUniProt · Pfam · InterPro

• Helicase-like, DEXD box c2 type
• ATP-dependent helicase, C-terminal
• RAD3-like helicase, DEAD
• ATP-dependent helicase Rad3/Chl1-like
• Helicase superfamily 1/2, ATP-binding domain
• Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
• P-loop containing nucleoside triphosphate hydrolase
• Helicase superfamily 1/2, DinG/Rad3-like
• DEAD_2
• Helicase C-terminal domain

KeywordsUniProt

• 4Fe-4S
• Acetylation
• ATP-binding
• Cytoplasm
• DNA damage
• DNA repair
• Fanconi anemia
• Helicase
• Hydrolase
• Iron
• Iron-sulfur
• Isomerase
• Metal-binding
• Nucleotide-binding
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of BRIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CIAO2B
• MMS19
• BLM
• BRCA1
• HSD17B14
• MLH1