PAXX - PAXX non-homologous end joining factor Gene

中文名称：PAXX 非同源末端连接因子

种属: Homo sapiens

同用名: XLS; C9orf142

基因 ID: 286257 | 基因类型: protein coding

关于 PAXX

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,992,422-136,993,976 (from NCBI)

This gene has 8 transcripts (splice variants) and 135 orthologues. Ubiquitous expression in spleen (RPKM 25.7), lymph node (RPKM 14.9) and 25 other tissues.

功能概要

该基因编码的蛋白质在 DNA 双链断裂修复的非同源末端连接 (NHEJ) 通路中发挥作用。编码的蛋白质可能起到稳定 Ku70/Ku80 异二聚体的作用，以促进组装并维持 NHEJ 复合物的稳定性。[RefSeq 提供，2016 年 7 月]

The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]

PAXX 基因产物(2)

mRNA	Protein	Name
NM_001329678.2	NP_001316607.1	protein PAXX isoform 1
NM_183241.3	NP_899064.1	protein PAXX isoform 2

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 DNA polymerase binding	IPI IPI: 通过物理相互作用推断	30250067	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	25574025	GOA
enables molecular adaptor activity	IDA IDA: 通过直接分析推断	25670504	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25574025	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	25574025	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	25574025	GOA
involved in double-strand break repair via nonhomologous end joining	IDA IDA: 通过直接分析推断	30250067	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: 通过突变表型推断	25574025	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Ku70:Ku80 complex	IDA IDA: 通过直接分析推断	25670504	GOA
part of nonhomologous end joining complex	IDA IDA: 通过直接分析推断	25670504	GOA
located in nucleus	IDA IDA: 通过直接分析推断	25574025	GOA
located in site of double-strand break	IDA IDA: 通过直接分析推断	25670504	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

PAXX 蛋白结构

PAXX

0
100
204 a.a.

蛋白主名

其他名称

protein PAXX

XRCC4-like small protein

PAXX 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	PAXX	Q9BUH6	XRCC5	Homo sapiens	P13010	Anti Tag CoIP	31548606
种属内	PAXX	Q9BUH6	OPTN	Homo sapiens	Q96CV9	Y2H Array	32814053
种属内	PAXX	Q9BUH6	OPTN	Homo sapiens	Q96CV9	Validated Y2H	32814053
种属内	PAXX	Q9BUH6	OPTN	Homo sapiens	Q96CV9	Y2H Pooling	32814053

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

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

Severe Combined Immunodeficiency, Athabascan Type	Severe Combined Immunodeficiency Due To Dclre1c Deficiency
Rs-Scid	Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation
Scid Due To Artemis Deficiency	Scid Due To Dclre1c Deficiency
Scid, Athabascan Type	Scid, Athabaskan Type
Severe Combined Immunodeficiency Due To Artemis Deficiency	Severe Combined Immunodeficiency, Athabaskan Type
SCIDA	Severe Combined Immunodeficiency, Athabascan-Type
Artemis Deficiency	Severe Combined Immunodeficiency Athabaskan Type
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation	RSSCID
Athabascan Scid	Immunodeficiency, Severe Combined, Athabascan Type
Severe Combined Immunodeficiency, Athabaskan-Type

Lig4 Syndrome

Dna Ligase Iv Deficiency	Ligase 4 Syndrome
LIG4S

Developmental And Epileptic Encephalopathy 54

DEE54	Epileptic Encephalopathy, Early Infantile, 54
Eiee54	Developmental And Epileptic Encephalopathy, 54
Early Infantile Epileptic Encephalopathy 54	Encephalopathy, Epileptic, Early Infantile, Type 54

Immunodeficiency With Hyper-Igm, Type 5

HIGM5	Hyper-Igm Syndrome 5
Immunodeficiency With Hyper Igm Type 5	Hyper-Igm Syndrome Type 5
Hyper-Igm Syndrome Due To Ung Deficiency	Hyper-Igm Syndrome Due To Uracil N-Glycosylase
Immunodeficiency With Hyper Igm, Type 5	Hyper Igm Syndrome 5
Immunodeficiency With Hyper-Igm 5	Hyper-Igm Immunodeficiency Type 5
Immunodeficiency, With Hyper Igm, Type 5	Hyper-Igm Immunodeficiency Syndrome, Type 5

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

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-RS10099	PAXX Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	PAXX	RGD	RGD:1306215
Canis familiaris	PAXX	VGNC	VGNC:44283
Bos taurus	PAXX	VGNC	VGNC:32603
Macaca mulatta	PAXX	VGNC	VGNC:75686
Mus musculus	PAXX	MGD	MGI:2442831
Felis catus	PAXX	VGNC	VGNC:64052

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PAXX - PAXX non-homologous end joining factor Gene

关于 PAXX

功能概要

PAXX 基因产物(2)

PAXX 蛋白结构

PAXX 蛋白互作信息

关联疾病

直系同源

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PAXX - PAXX non-homologous end joining factor Gene

关于 PAXX

功能概要

PAXX 基因产物(2)

PAXX 蛋白结构

PAXX 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z