1. Gene
  2. BRIP1 - BRCA1 interacting helicase 1 Gene

BRIP1 - BRCA1 interacting helicase 1 Gene

中文名称:BRCA1 相互作用解旋酶 1

种属: Homo sapiens

同用名: OF; BACH1; FANCJ

基因 ID: 83990 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 RecQ DEAH 解旋酶家族的成员,并与乳腺癌 1 型 (BRCA1) 的 BRCT 重复序列相互作用。结合的复合物在 1 型乳腺癌 (BRCA1) 的正常双链断裂修复功能中很重要。该基因可能是种系癌症诱导突变的靶标。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_032043.3 NP_114432.2 Fanconi anemia group J protein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5'-3' DNA helicase activity IDA
IDA: 通过直接分析推断
14983014 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11301010 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G-quadruplex DNA unwinding IDA
IDA: 通过直接分析推断
18426915 GOA
involved in protein-DNA covalent cross-linking repair IDA
IDA: 通过直接分析推断
36608669 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BRCA1-B complex IPI
IPI: 通过物理相互作用推断
16391231 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
23585563 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23585563 GOA
is active in replication fork IDA
IDA: 通过直接分析推断
36608669 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BRIP1 蛋白结构

DEAD_2

DEAD_2: DEAD_2 (248 - 415)

Helicase_C_2

Helicase_C_2: Helicase C-terminal domain (680 - 866)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1249 a.a.
蛋白主名 其他名称

Fanconi anemia group J protein

ATP-dependent RNA helicase BRIP1

BRIP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BRIP1 Q9BX63 MMS19 Homo sapiens Q96T76
Anti Bait CoIP
23585563
种属内
BRIP1 Q9BX63 BRCA1 Homo sapiens P38398
Anti Bait CoIP
17581638
种属内
BRIP1 Q9BX63 BRCA1 Homo sapiens P38398
Anti Tag CoIP
17581638
种属内
BRIP1 Q9BX63 BRCA1 Homo sapiens P38398
SPR
14576432
种属内
BRIP1 Q9BX63 BRCA1 Homo sapiens P38398
X-Ray Diffraction
15125843
种属内
BRIP1 Q9BX63 BLM Homo sapiens P54132
Anti Bait CoIP
21240188
种属内
BRIP1 Q9BX63 BLM Homo sapiens P54132
Anti Tag CoIP
21240188
种属内
BRIP1 Q9BX63 HSD17B14 Homo sapiens Q9BPX1
Y2H Prey Pooling
32296183
种属内
BRIP1 Q9BX63 HSD17B14 Homo sapiens Q9BPX1
Y2H Array
32296183
种属内
BRIP1 Q9BX63 MLH1 Homo sapiens P40692
Anti Tag CoIP
17581638
种属内
BRIP1 Q9BX63 MLH1 Homo sapiens P40692
ELISA
17581638
种属内
BRIP1 Q9BX63 MLH1 Homo sapiens P40692
Anti Bait CoIP
23585563
种属内
BRIP1 Q9BX63 MLH1 Homo sapiens P40692
Anti Tag CoIP
34591612
种属内
BRIP1 Q9BX63 MLH1 Homo sapiens P40692
Anti Bait CoIP
22792074
种属内
BRIP1 Q9BX63 MLH1 Homo sapiens P40692
Anti Bait CoIP
17581638
种属间: 跨种属相互作用 种属内: 同种属相互作用

BRIP1 抗体

目录号 产品名 应用 反应物种
HY-P82316 BACH1 Antibody (YA2061) WB Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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