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  2. BABAM1 - BRISC and BRCA1 A complex member 1 Gene

BABAM1 - BRISC and BRCA1 A complex member 1 Gene

中文名称:BRISC 和 BRCA1 复杂成员 1

种属: Homo sapiens

同用名: NBA1; HSPC142; MERIT40; C19orf62

基因 ID: 29086 | 基因类型: protein coding

关于 BABAM1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,267,443-17,279,337 (from NCBI)

This gene has 18 transcripts (splice variants) and 184 orthologues. Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues.

功能概要

参与多个过程,包括有丝分裂 G2 DNA 损伤检查点信号; DNA 修复的正调控;和蛋白质 K63 连接的去泛素化。位于细胞质和核体中。 BRCA1-A 复合体和 BRISC 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; positive regulation of DNA repair; and protein K63-linked deubiquitination. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Apr 2022]

BABAM1 基因产物(4)

mRNA Protein Name
NM_001033549.3 NP_001028721.1 BRISC and BRCA1-A complex member 1 isoform 1
NM_001288756.2 NP_001275685.1 BRISC and BRCA1-A complex member 1 isoform 1
NM_001288757.2 NP_001275686.1 BRISC and BRCA1-A complex member 1 isoform 2
NM_014173.4 NP_054892.2 BRISC and BRCA1-A complex member 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 identical protein binding IPI
IPI: 通过物理相互作用推断
37398436 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair-dependent chromatin remodeling IMP
IMP: 通过突变表型推断
19261746 GOA
involved in double-strand break repair IMP
IMP: 通过突变表型推断
19261746 GOA
involved in mitotic G2 DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
19261746 GOA
involved in positive regulation of DNA repair IMP
IMP: 通过突变表型推断
19261746 GOA
involved in response to ionizing radiation IMP
IMP: 通过突变表型推断
19261748 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
19261746 GOA
part of BRISC complex IDA
IDA: 通过直接分析推断
19214193 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19261749 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19261746 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

BRISC and BRCA1-A complex member 1

BRCA1-A complex subunit MERIT40

BABAM1 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 BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
33961781
Intra BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
28514442
Intra BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
22153077
Intra BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
FPS
22153077
Intra BABAM1 Q9NWV8 PMF1 Homo sapiens Q6P1K2
BiLC
37398436
Intra BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Validated Y2H
25416956
Intra BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
25416956
Intra BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Array
25416956
Intra BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Y2H Array
31515488
Intra BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
19615732
Intra BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
BRET
37398436
Intra BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
BiLC
37398436
Intra BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
33961781
Intra BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
28514442
Intra BABAM1 Q9NWV8 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
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
Arthrogryposis, Renal Dysfunction, And Cholestasis 2

ARCS2

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 2

Arthrogryposis Renal Dysfunction And Cholestasis 2

Cherubism

CRBM

Familial Benign Giant-Cell Tumor Of The Jaw

Familial Fibrous Dysplasia Of Jaw

Familial Multilocular Cystic Disease Of The Jaws

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome

ARCS1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis

Arthrogryposis-Renal Dysfunction-Cholestasis

Arthrogryposis - Renal Dysfunction - Cholestasis

Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

Arthrogryposis Renal Dysfunction And Cholestasis 1

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Kidney Failure

Renal Insufficiency

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

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 BABAM1 VGNC VGNC:102005
Macaca mulatta BABAM1 VGNC VGNC:70126
Mus musculus BABAM1 MGD MGI:1915501
Canis familiaris BABAM1 VGNC VGNC:57303
Rattus norvegicus BABAM1 RGD RGD:1359516
Bos taurus BABAM1 VGNC VGNC:55198