Tissue expression of BRIP1 - Summary - The Human Protein Atlas

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BRIP1

TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Tissue enhanced (testis)
GTEx:	Tissue enhanced (testis)
FANTOM5:	Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein expression

General nuclear expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA005474
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

N/A

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

N/A

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

N/A

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis)

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 Show all	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) Show all	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] Show all	1249 aa 140.9 kDa	No	0
BRIP1-002 ENSP00000464654 ENST00000577598	J3QSE8 [Direct mapping] Fanconi anemia group J protein Show all	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) Show all	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] Show all	994 aa 112.5 kDa	No	0
BRIP1-003 ENSP00000462274 ENST00000577913	J3KS24 [Direct mapping] Fanconi anemia group J protein Show all	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) Show all	GO:0005524 [ATP binding] Show all	69 aa 7.5 kDa	No	0
BRIP1-006 ENSP00000463272 ENST00000584322	J3QKX0 [Direct mapping] Fanconi anemia group J protein Show all	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] Show all	180 aa 19.6 kDa	No	0

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The Human Protein Atlas

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