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BRIP1

GENERAL INFORMATION

Gene name

 BRIP1

Gene description

 BRCA1 interacting protein C-terminal helicase 1

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Mixed
HPA (normal tissue):Tissue enhanced (testis)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General nuclear expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA005474
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PROGNOSTIC SUMMARY
Prognostic marker in colorectal cancer (favourable) and head and neck cancer (favourable).
Colorectal cancer p<0.001
Head and neck cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA005474

GENE INFORMATION

Gene name

 BRIP1 (HGNC Symbol)

Synonyms

 BACH1, FANCJ, OF

Description

 BRCA1 interacting protein C-terminal helicase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 17

Cytoband

 q23.2

Chromosome location (bp)

 61681266 - 61863521

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000136492 (version 83.38)

Entrez gene

 83990

UniProt

 Q9BX63 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BX63

Antibodypedia

 BRIP1 antibodies

PROTEIN BROWSER
BRIP1-001
BRIP1-002
BRIP1-003
BRIP1-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BRIP1-001
ENSP00000259008
ENST00000259008
Q9BX63 [Direct mapping]
Fanconi anemia group J protein
A0A024QZ45 [Target identity:100%; Query identity:100%]
BRCA1 interacting protein C-terminal helicase 1, isoform CRA_a
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Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000077 [DNA damage checkpoint]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0008026 [ATP-dependent helicase activity]
GO:0008285 [negative regulation of cell proliferation]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0031965 [nuclear membrane]
GO:0032508 [DNA duplex unwinding]
GO:0044281 [small molecule metabolic process]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0046872 [metal ion binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0071295 [cellular response to vitamin]
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 1249 aa
140.9 kDa 		No 0
BRIP1-002
ENSP00000464654
ENST00000577598
J3QSE8 [Direct mapping]
Fanconi anemia group J protein
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
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GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0008026 [ATP-dependent helicase activity]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0032508 [DNA duplex unwinding]
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 994 aa
112.5 kDa 		No 0
BRIP1-003
ENSP00000462274
ENST00000577913
J3KS24 [Direct mapping]
Fanconi anemia group J protein
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   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
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GO:0005524 [ATP binding]
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 69 aa
7.5 kDa 		No 0
BRIP1-006
ENSP00000463272
ENST00000584322
J3QKX0 [Direct mapping]
Fanconi anemia group J protein
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   Phobius predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0005524 [ATP binding]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0008026 [ATP-dependent helicase activity]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
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 180 aa
19.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.