BRIP1 - BRCA1 interacting helicase 1 Gene

Also Known as OF; BACH1; FANCJ

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83990

About BRIP1

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:61,679,139-61,863,528 (from NCBI)

This gene has 26 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 96 phenotypes. Broad expression in testis (RPKM 1.9), bone marrow (RPKM 1.0) and 16 other tissues.

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]

BRIP1 Products (1)

mRNA	Protein	Name
NM_032043.3	NP_114432.2	Fanconi anemia group J protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-3' DNA helicase activity	IDA IDA: Inferred from direct assay	14983014	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11301010	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in G-quadruplex DNA unwinding	IDA IDA: Inferred from direct assay	18426915	GOA
involved in protein-DNA covalent cross-linking repair	IDA IDA: Inferred from direct assay	36608669	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BRCA1-B complex	IPI IPI: Inferred from physical interaction	16391231	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	23585563	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23585563	GOA
is active in replication fork	IDA IDA: Inferred from direct assay	36608669	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRIP1 Protein Structure

DEAD_2

Helicase_C_2

0
200
400
600
800
1000
1249 a.a.

Protein Preferred Names	Protein Names
Fanconi anemia group J protein	ATP-dependent RNA helicase BRIP1

BRIP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BRIP1	Q9BX63	MMS19	Homo sapiens	Q96T76	Anti Bait CoIP	23585563
Intra	BRIP1	Q9BX63	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	17581638
Intra	BRIP1	Q9BX63	BRCA1	Homo sapiens	P38398	Anti Tag CoIP	17581638
Intra	BRIP1	Q9BX63	BRCA1	Homo sapiens	P38398	SPR	14576432
Intra	BRIP1	Q9BX63	BRCA1	Homo sapiens	P38398	X-Ray Diffraction	15125843
Intra	BRIP1	Q9BX63	BLM	Homo sapiens	P54132	Anti Bait CoIP	21240188
Intra	BRIP1	Q9BX63	BLM	Homo sapiens	P54132	Anti Tag CoIP	21240188
Intra	BRIP1	Q9BX63	HSD17B14	Homo sapiens	Q9BPX1	Y2H Prey Pooling	32296183
Intra	BRIP1	Q9BX63	HSD17B14	Homo sapiens	Q9BPX1	Y2H Array	32296183
Intra	BRIP1	Q9BX63	MLH1	Homo sapiens	P40692	Anti Tag CoIP	17581638
Intra	BRIP1	Q9BX63	MLH1	Homo sapiens	P40692	ELISA	17581638
Intra	BRIP1	Q9BX63	MLH1	Homo sapiens	P40692	Anti Bait CoIP	23585563
Intra	BRIP1	Q9BX63	MLH1	Homo sapiens	P40692	Anti Tag CoIP	34591612
Intra	BRIP1	Q9BX63	MLH1	Homo sapiens	P40692	Anti Bait CoIP	22792074
Intra	BRIP1	Q9BX63	MLH1	Homo sapiens	P40692	Anti Bait CoIP	17581638

Cross: Cross-species interaction Intra: Intraspecies interaction

BRIP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82316	BACH1 Antibody (YA2061)	WB	Human
HY-P84766	BACH1 Antibody (YA4463)	IHC-P, FC, ELISA	Human
HY-P84766A	BACH1 Antibody (YA4463)(PBS only)	IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Fanconi Anemia, Complementation Group J	Fanconi Anemia Complementation Group J FANCJ
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal Atresia With Or Without Tracheoesophageal Fistula Esophageal Atresia
Ovarian Cancer 1	Ovarian Cancer, Susceptibility To Ovarian Cancer, Susceptibility To, 1 OVCAS1 Ovarian Cancer Ovarian Carcinoma Malignant Neoplasm Of Ovary Epithelial Ovarian Cancer
Breast-Ovarian Cancer, Familial 1	BROVCA1 Breast-Ovarian Cancer, Familial, Susceptibility To, 1 Breast-Ovarian Cancer, Familial, 1 Brca2 Hereditary Breast And Ovarian Cancer Syndrome Hboc1 Brca1 Hereditary Breast And Ovarian Cancer Syndrome Familial Susceptibility To Breast-Ovarian Cancer 1 Brovca2 Familial Susceptibility To Breast-Ovarian Cancer 2 Hboc Breast Cancer Familial 1 Ovarian Cancer Familial 1 Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 1
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Genetic Non-Acquired Premature Ovarian Failure
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Diffuse Midline Glioma, H3 K27m-Mutant	Diffuse Intrinsic Pontine Glioma Dipg Infiltrative Brainstem Glioma
Warsaw Breakage Syndrome	WABS WBRS
Fanconi Anemia, Complementation Group N	Fanconi Anemia Complementation Group N FANCN
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Fanconi Anemia, Complementation Group O	Fanconi Anemia Complementation Group O FANCO
Fanconi Anemia, Complementation Group D1	Fanconi Anemia Complementation Group D1 FANCD1 Fad1 Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum, Group D Xpdc Xeroderma Pigmentosum Iv XPD Xeroderma Pigmentosum Group D Xeroderma Pigmentosum Viii Xp Group D Xp Group H Xp4 Xp8 Xph Xp, Group D Xp4 Xeroderma Pigmentosum Viii, Formerly Xp8, Formerly Xp, Group H, Formerly Xph, Formerly Xeroderma Pigmentosum Complementation Group D XP-D Xp-D/Cs
Fanconi Anemia, Complementation Group R	Fanconi Anemia Complementation Group R FANCR
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Parkinsonism With Spasticity, X-Linked	X-Linked Parkinsonism-Spasticity Syndrome XPDS X-Linked Parkinsonism With Spasticity
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Baller-Gerold Syndrome	BGS Craniosynostosis With Radial Defects Craniosynostosis-Radial Aplasia Syndrome Craniosynostosis Radial Aplasia Syndrome
Rapadilino Syndrome	Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate Radial And Patellar Aplasia Radial And Patellar Hypoplasia RAPADILINOS
Physical Disorder	Physical Illness
Sporadic Breast Cancer	Sporadic Breast Carcinoma
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01623	BRIP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20866	Brip1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27381	Brip1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BRIP1	VGNC	VGNC:60177
Rattus norvegicus	BRIP1	RGD	RGD:1307659
Macaca mulatta	BRIP1	VGNC	VGNC:70352
Mus musculus	BRIP1	MGD	MGI:2442836
Bos taurus	BRIP1	VGNC	VGNC:50067
Canis familiaris	BRIP1	VGNC	VGNC:38530
Others	BRIP1	NCBI