ABRAXAS1 - abraxas 1, BRCA1 A complex subunit Gene

中文名称：abraxas 1, BRCA1 一个复杂的亚基

种属: Homo sapiens

同用名: ABRA1; CCDC98; FAM175A

基因 ID: 84142 | 基因类型: protein coding

关于 ABRAXAS1

Cytogenetic location: 4q21.23 Genomic coordinates (GRCh38): 4:83,459,517-83,485,100 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 9.6), testis (RPKM 8.6) and 25 other tissues.

功能概要

该基因编码的蛋白质通过磷酸化 SXXF 基序与乳腺癌 1 (BRCA1) 的 C 末端重复序列结合。编码的蛋白质将含有 1 个蛋白质的泛素相互作用基序募集到 BRCA1 蛋白质，并且是 DNA 损伤抵抗、DNA 修复和细胞周期检查点控制所必需的。该基因的假基因存在于 3 号和 8 号染色体上。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes a protein that binds to the C-terminal repeats of breast Cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ABRAXAS1 基因产物(2)

mRNA	Protein	Name
NM_001345962.2	NP_001332891.1	BRCA1-A complex subunit Abraxas 1 isoform 2
NM_139076.3	NP_620775.2	BRCA1-A complex subunit Abraxas 1 isoform 1

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 polyubiquitin modification-dependent protein binding	IDA IDA: 通过直接分析推断	19261749	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17525340	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in double-strand break repair	IMP IMP: 通过突变表型推断	17525340	GOA
involved in mitotic G2 DNA damage checkpoint signaling	IMP IMP: 通过突变表型推断	17525340	GOA
involved in positive regulation of DNA repair	IMP IMP: 通过突变表型推断	17525340	GOA
involved in response to ionizing radiation	IMP IMP: 通过突变表型推断	17525340	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of BRCA1-A complex	IDA IDA: 通过直接分析推断	17525340	GOA
located in nucleus	IDA IDA: 通过直接分析推断	17525340	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

蛋白主名

其他名称

BRCA1-A complex subunit Abraxas 1

abraxas protein

ABRAXAS1 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
Intra	ABRAXAS1	Q6UWZ7	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	IF	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Pull Down	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	17643121
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Pull Down	17643121
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	SPR	17525340
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1	Anti Bait CoIP	17525340
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1	Anti Tag CoIP	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCC3	Homo sapiens	P46736	Anti Bait CoIP	18077395
Intra	ABRAXAS1	Q6UWZ7	BRCC3	Homo sapiens	P46736	Anti Tag CoIP	18077395
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1-1	Anti Bait CoIP	17643121
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1-1	Anti Tag CoIP	18077395

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

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

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

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

Ovarian Endometrioid Adenofibroma

Fanconi Anemia, Complementation Group J

Fanconi Anemia Complementation Group J

FANCJ

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

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00113	ABRAXAS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ABRAXAS1	MGD	MGI:1917931
Macaca mulatta	ABRAXAS1	VGNC	VGNC:106536
Canis familiaris	ABRAXAS1	VGNC	VGNC:57405
Rattus norvegicus	ABRAXAS1	RGD	RGD:1305287
Felis catus	ABRAXAS1	VGNC	VGNC:78448
Bos taurus	ABRAXAS1	VGNC	VGNC:53684

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