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

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

BHD_1

BHD_2

BHD_3

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
Intra	XPC	Q01831	ERCC3	Homo sapiens	P19447	Anti Tag CoIP	34591642
Intra	XPC	Q01831	ERCC3	Homo sapiens	P19447	Pull Down	10734143
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	34591612
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	34591642
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Pull Down	21962512
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	33961781
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	28514442
Intra	XPC	Q01831	PSMC5	Homo sapiens	P62195	Pull Down	17693435
Intra	XPC	Q01831	GTF2H1	Homo sapiens	P32780	Anti Tag CoIP	34591642
Intra	XPC	Q01831	GTF2H1	Homo sapiens	P32780	Pull Down	10734143
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Anti Tag CoIP	34591612
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Anti Tag CoIP	33961781
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Anti Tag CoIP	34591642
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Affinity Chrom	21962512
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Y2H	10488153
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	Pull Down	18024891
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	Anti Bait CoIP	18024891
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	Anti Tag CoIP	18024891
Cross	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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-128772	XPC-6444	Inhibitor	98.85%	否
HY-157784	XPC-7724	Inhibitor	99.83%	否
HY-157786	XPC-5462	Inhibitor	/	否
HY-RS15885	XPC Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

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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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 XPC

功能概要

XPC 基因产物(5)

XPC 蛋白结构

XPC 蛋白互作信息

关联疾病

直系同源

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

关于 XPC

功能概要

XPC 基因产物(5)

XPC 蛋白结构

XPC 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

L

N

Q

S

T

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