XPC 复合亚基、DNA 损伤识别和修复因子(XPC)基因

XPC 复合亚基、DNA 损伤识别和修复因子(XPC)基因

XPC - XPC complex subunit, DNA damage recognition and repair factor Gene

基因

蛋白

疾病

相关产品

直系同源

中文名称:XPC 复合亚基、DNA 损伤识别和修复因子

种属: Homo sapiens

同用名: XP3; RAD4; XPCC; p125

基因 ID: 7508

|

基因类型: protein coding

关于 XPC

Cytogenetic location: 3p25.1

Genomic coordinates (GRCh38): 3:14,145,147-14,178,601 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues and is associated with 86 phenotypes. Ubiquitous expression in ovary (RPKM 17.1), kidney (RPKM 15.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是 XPC 复合体的关键组成部分,在全基因组核苷酸切除修复 (NER) 的早期步骤中发挥重要作用。编码的蛋白质对于损伤感知和 DNA 结合很重要,并且显示出对单链 DNA 的偏好。该基因或其他一些 NER 成分的突变可导致着色性干皮病,这是一种罕见的常染色体隐性遗传病,其特征是对阳光的敏感性增加,并在早期发展为癌症。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2017 年 8 月]

The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some Other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

XPC 基因产物(5)

mRNA

Protein

Name

NM_001354726.2

NP_001341655.1

DNA repair protein complementing XP-C cells isoform 3

NM_001354727.2

NP_001341656.1

DNA repair protein complementing XP-C cells isoform 4

NM_001354729.2

NP_001341658.1

DNA repair protein complementing XP-C cells isoform 5

NM_001354730.2

NP_001341659.1

DNA repair protein complementing XP-C cells isoform 6

NM_004628.5

NP_004619.3

DNA repair protein complementing XP-C cells 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 DNA damage sensor activity

IDA

IDA: 通过直接分析推断

10873465

GOA

enables damaged DNA binding

IDA

IDA: 通过直接分析推断

12509299

GOA

enables protein binding

IPI

IPI: 通过物理相互作用推断

10488153

GOA

enables protein-containing complex binding

IDA

IDA: 通过直接分析推断

11259578

GOA

enables single-stranded DNA binding

IDA

IDA: 通过直接分析推断

12509299

GOA

enables transcription coactivator activity

IDA

IDA: 通过直接分析推断

29973595

GOA

生物过程 GO 注释

逻辑证据

参考文献

来源

involved in UV-damage excision repair

IDA

IDA: 通过直接分析推断

8077226

GOA

involved in nucleotide-excision repair

IDA

IDA: 通过直接分析推断

8168482

GOA

involved in positive regulation of DNA-templated transcription

IDA

IDA: 通过直接分析推断

29973595

GOA

involved in regulation of mitotic cell cycle phase transition

IMP

IMP: 通过突变表型推断

17088560

GOA

细胞组分 GO 注释

逻辑证据

参考文献

来源

part of XPC complex

IDA

IDA: 通过直接分析推断

11279143

GOA

located in cytoplasm

IDA

IDA: 通过直接分析推断

18682493

GOA

part of nucleotide-excision repair complex

IDA

IDA: 通过直接分析推断

11259578

GOA

located in nucleus

IDA

IDA: 通过直接分析推断

18682493

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

XPC 蛋白结构

Rad4

Rad4: Rad4 transglutaminase-like domain (501 - 625)

BHD_1

BHD_1: Rad4 beta-hairpin domain 1 (631 - 682)

BHD_2

BHD_2: Rad4 beta-hairpin domain 2 (684 - 744)

BHD_3

BHD_3: Rad4 beta-hairpin domain 3 (751 - 825)

0

200

400

600

800

940 a.a.

蛋白主名

其他名称

DNA repair protein complementing XP-C cells

mutant xeroderma pigmentosum group C

XPC 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

XPC

Q01831

ERCC3

Homo sapiens

P19447

Anti Tag CoIP

34591642

种属内

XPC

Q01831

ERCC3

Homo sapiens

P19447

Pull Down

10734143

种属内

XPC

Q01831

CETN2

Homo sapiens

P41208

Anti Tag CoIP

34591612

种属内

XPC

Q01831

CETN2

Homo sapiens

P41208

Anti Tag CoIP

34591642

种属内

XPC

Q01831

CETN2

Homo sapiens

P41208

Pull Down

21962512

种属内

XPC

Q01831

CETN2

Homo sapiens

P41208

Anti Tag CoIP

33961781

种属内

XPC

Q01831

CETN2

Homo sapiens

P41208

Anti Tag CoIP

28514442

种属内

XPC

Q01831

PSMC5

Homo sapiens

P62195

Pull Down

17693435

种属内

XPC

Q01831

GTF2H1

Homo sapiens

P32780

Anti Tag CoIP

34591642

种属内

XPC

Q01831

GTF2H1

Homo sapiens

P32780

Pull Down

10734143

种属内

XPC

Q01831

RAD23B

Homo sapiens

P54727

Anti Tag CoIP

34591612

种属内

XPC

Q01831

RAD23B

Homo sapiens

P54727

Anti Tag CoIP

33961781

种属内

XPC

Q01831

RAD23B

Homo sapiens

P54727

Anti Tag CoIP

34591642

种属内

XPC

Q01831

RAD23B

Homo sapiens

P54727

Affinity Chrom

21962512

种属内

XPC

Q01831

RAD23B

Homo sapiens

P54727

Y2H

10488153

种属间

XPC

Q01831

kr2_ebvb9

Epstein-Barr virus

P13288

Pull Down

18024891

种属间

XPC

Q01831

kr2_ebvb9

Epstein-Barr virus

P13288

Anti Bait CoIP

18024891

种属间

XPC

Q01831

kr2_ebvb9

Epstein-Barr virus

P13288

Anti Tag CoIP

18024891

种属间

XPC

Q01831

kr2_ebvb9

Epstein-Barr virus

P13288

IF

18024891

种属间: 跨种属相互作用

种属内: 同种属相互作用

XPC 抗体

目录号

产品名

应用

反应物种

HY-P84461

XPC Antibody (YA4158)

WB, IHC-P, ICC/IF, FC, ELISA

Human

关联疾病

疾病名称

别名

Xeroderma Pigmentosum, Complementation Group C

Xeroderma Pigmentosum, Group C

XPC

Xpcc

Xeroderma Pigmentosum Iii

Xp3

Xeroderma Pigmentosum Group C

Xp Group C

Xp, Group C

Xeroderma Pigmentosum, Type 3

Xeroderma Pigmentosum Complementation Group C

XP-C

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

Xeroderma Pigmentosum, Complementation Group A

Xeroderma Pigmentosum Group A

Xp1

Xeroderma Pigmentosum, Group A

XPA

Xeroderma Pigmentosum I

Xeroderma Pigmentosum Complementation Group A

Xp Group A

Xp, Group A

Xeroderma Pigmentosum 1

Xeroderma Pigmentosum, Type 1

XP-A

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Xeroderma Pigmentosum, Complementation Group E

Xeroderma Pigmentosum V

Xp5

Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype

Xpe

Xp, Group E

Xeroderma Pigmentosum, Type 5

Xeroderma Pigmentosum Complementation Group E

XP-E

Xp Group E

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Prostate Calculus

Calculus Of Prostate

Prostatic Lithiasis

Stone Of Prostate

Prostatic Stone

Prostate Calculi

Prostatolithiasis

Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

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

相关产品

Pre-clinical Phase

生物活性分子

(6)

Cat. No.

产品名

作用方式

纯度

是否罕见病

HY-157784

XPC-7724

Inhibitor

98.97%

HY-157786

XPC-5462

Inhibitor

98.25%

HY-128772

XPC-6444

Inhibitor

98.93

HY-RS15885

XPC Human Pre-designed siRNA Set A

Pre-designed Set

/

HY-RS20245

Xpc Mouse Pre-designed siRNA Set A

Pre-designed Set

/

HY-RS26753

Xpc Rat Pre-designed siRNA Set A

Pre-designed Set

/

直系同源

种属

基因名

来源

基因 ID

Felis catus

XPC

VGNC

VGNC:67109

Canis familiaris

XPC

VGNC

VGNC:48456

Mus musculus

XPC

MGD

MGI:103557

Macaca mulatta

XPC

VGNC

VGNC:78809

Rattus norvegicus

XPC

RGD

RGD:1305760

Bos taurus

XPC

VGNC

VGNC:36993

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