1. Gene
  2. XPA - XPA, DNA damage recognition and repair factor Gene

XPA - XPA, DNA damage recognition and repair factor Gene

中文名称:XPA,DNA 损伤识别和修复因子

种属: Homo sapiens

同用名: XP1; XPAC

基因 ID: 7507 | 基因类型: protein coding

关于 XPA

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:97,654,398-97,697,340 (from NCBI)

This gene has 4 transcripts (splice variants), 213 orthologues and is associated with 43 phenotypes. Ubiquitous expression in thyroid (RPKM 6.2), fat (RPKM 4.7) and 25 other tissues.

功能概要

该基因编码的锌指蛋白在核苷酸切除修复 (NER) 中起着核心作用,NER 是一种特殊的 DNA 修复类型。 NER 负责修复由化学致癌物和化疗药物诱导的紫外线辐射诱导的光产物和 DNA 加合物。编码的蛋白质与 DNA 和几种 NER 蛋白质相互作用,充当支架,在 DNA 损伤部位组装 NER 切口复合物。该基因的突变导致着色性干皮病互补组 A (XP-A) ,这是一种常染色体隐性遗传性皮肤病,具有对阳光过敏和增加患皮肤癌风险的特点。[RefSeq 提供,2017 年 8 月]

This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin Cancer. [provided by RefSeq, Aug 2017]

XPA 基因产物(2)

mRNA Protein Name
NM_000380.4 NP_000371.1 DNA repair protein complementing XP-A cells isoform 1
NM_001354975.2 NP_001341904.1 DNA repair protein complementing XP-A cells 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 damaged DNA binding IDA
IDA: 通过直接分析推断
7700386 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7700386 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
17720715 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
8197175 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IDA
IDA: 通过直接分析推断
1601884 GOA
involved in DNA repair IMP
IMP: 通过突变表型推断
1601884 GOA
involved in UV protection IDA
IDA: 通过直接分析推断
1601884 GOA
involved in UV protection IMP
IMP: 通过突变表型推断
1601884 GOA
involved in nucleotide-excision repair IMP
IMP: 通过突变表型推断
21148310 GOA
involved in protein localization to nucleus IMP
IMP: 通过突变表型推断
1601884 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA replication factor A complex IDA
IDA: 通过直接分析推断
7700386 GOA
located in nucleus IDA
IDA: 通过直接分析推断
1601884 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

XPA 蛋白结构

XPA_N

XPA_N: XPA protein N-terminal (100 - 133)

XPA_C

XPA_C: XPA protein C-terminus (134 - 186)

  • 0
  • 100
  • 200
  • 273 a.a.
蛋白主名 其他名称

DNA repair protein complementing XP-A cells

xeroderma pigmentosum group A-complementing protein

XPA 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 XPA P23025 HERC2 Homo sapiens O95714
Anti Bait CoIP
20304803
Intra XPA P23025 HERC2 Homo sapiens O95714
Anti Tag CoIP
20304803
Intra XPA P23025 HERC2 Homo sapiens O95714
Anti Tag CoIP
33961781
Intra XPA P23025 ERCC1 Homo sapiens P07992-3
Y2H Prey Pooling
32296183
Intra XPA P23025 ERCC1 Homo sapiens P07992-3
Y2H Array
32296183
Intra XPA P23025 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra XPA P23025 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra XPA P23025 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra XPA P23025 SIRT1 Homo sapiens Q96EB6
Deacetylase Assay
20670893
Intra XPA P23025 SIRT1 Homo sapiens Q96EB6
Anti Bait CoIP
20670893
Intra XPA P23025 SKIL Homo sapiens P12757
Y2H Array
32296183
Intra XPA P23025 SKIL Homo sapiens P12757
Y2H Prey Pooling
32296183
Intra XPA P23025 TBC1D7 Homo sapiens Q9P0N9
Validated Y2H
32296183
Intra XPA P23025 SNPH Homo sapiens O15079
Y2H Prey Pooling
32296183
Intra XPA P23025 SNPH Homo sapiens O15079
Y2H Array
32296183
Intra XPA P23025 ARID3A Homo sapiens Q99856
Validated Y2H
32296183
Intra XPA P23025 ARID3A Homo sapiens Q99856
Y2H Prey Pooling
32296183
Intra XPA P23025 ARID3A Homo sapiens Q99856
Y2H Array
32296183
Intra XPA P23025 RPA2 Homo sapiens P15927
Anti Bait CoIP
20670893
Intra XPA P23025 RPA2 Homo sapiens P15927
Anti Tag CoIP
33961781
Intra XPA P23025 RPA2 Homo sapiens P15927
Y2H Prey Pooling
32296183
Intra XPA P23025 RPA2 Homo sapiens P15927
Anti Tag CoIP
20304803
Intra XPA P23025 RPA2 Homo sapiens P15927
Y2H Array
32296183
Intra XPA P23025 RPA2 Homo sapiens P15927
Anti Bait CoIP
12527904
Intra XPA P23025 ZNF655 Homo sapiens Q8N720
Y2H Prey Pooling
32296183
Intra XPA P23025 ZNF655 Homo sapiens Q8N720
Validated Y2H
32296183
Intra XPA P23025 ZNF655 Homo sapiens Q8N720
Y2H Array
32296183
Intra XPA P23025 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra XPA P23025 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra XPA P23025 DVL3 Homo sapiens Q92997
Y2H Prey Pooling
32296183
Intra XPA P23025 DVL3 Homo sapiens Q92997
Validated Y2H
32296183
Intra XPA P23025 DVL3 Homo sapiens Q92997
Y2H Array
32296183
Intra XPA P23025 ERCC1 Homo sapiens P07992
Cosedimentation
17948053
Intra XPA P23025 ERCC1 Homo sapiens P07992
Pull Down
16491090
Intra XPA P23025 ERCC1 Homo sapiens P07992
Anti Tag CoIP
28514442
Intra XPA P23025 ERCC1 Homo sapiens P07992
Anti Tag CoIP
33961781
Intra XPA P23025 ERCC1 Homo sapiens P07992
NMR
17948053
Intra XPA P23025 ERCC1 Homo sapiens P07992
GMS
17948053
Intra XPA P23025 PICK1 Homo sapiens Q9NRD5
Validated Y2H
32296183
Intra XPA P23025 PICK1 Homo sapiens Q9NRD5
Y2H Array
32296183
Intra XPA P23025 NDEL1 Homo sapiens Q9GZM8
Y2H Prey Pooling
32296183
Intra XPA P23025 NDEL1 Homo sapiens Q9GZM8
Validated Y2H
32296183
Intra XPA P23025 NDEL1 Homo sapiens Q9GZM8
Y2H Array
32296183
Intra XPA P23025 NDEL1 Homo sapiens Q9GZM8
Y2H Prey Pooling
25416956
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 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

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

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

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

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

Ibids

Pibids

Trichothiodystrophy Syndromes

Skin Benign Neoplasm

Neoplasm Of Skin By Site

Tumor Of The Skin

Skin Tumor

Benign Neoplasm Of Skin

Skin Neoplasms

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

Xeroderma Pigmentosum, Complementation Group F

Xeroderma Pigmentosum, Group F

Xeroderma Pigmentosum Vi

Xp6

Xeroderma Pigmentosum, Type F/Cockayne Syndrome

XPF

Xp, Group F

Xeroderma Pigmentosum Group F

Xp Group F

Xeroderma Pigmentosum, Type 6

Xeroderma Pigmentosum Complementation Group F

XP-F

Xeroderma Pigmentosum Type F/Cockayne Syndrome

XPF/CS

Multiple Self-Healing Squamous Epithelioma

MSSE

Ess1

Ferguson-Smith Type Epithelioma

Ferguson-Smith Disease

Self-Healing Squamous Epithelioma Type 1

Multiple Self-Healing Squamous Epithelioma, Susceptibility To

Ferguson-Smith-Type Epithelioma

Ess1, Formerly

Multiple Self Healing Squamous Epithelioma

Familial Primary Self-Healing Squamous Epithelioma Of The Skin, Ferguson-Smith Type

Multiple Keratoacanthoma, Ferguson-Smith Type

Epithelioma, Squamous, Multiple Self Healing

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

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Xfe Progeroid Syndrome

Xpf-Ercc1 Progeroid Syndrome

XFEPS

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

De Sanctis-Cacchione Syndrome

Xerodermic Idiocy

Xeroderma Pigmentosum With Neurologic Manifestation

DSC

Xerodermic Idiocy Of De Sanctis And Cacchione

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D

Xpdc

Xeroderma Pigmentosum Iv

XPD

Xeroderma Pigmentosum Group D

Xeroderma Pigmentosum Viii

Xp Group D

Xp Group H

Xp4

Xp8

Xph

Xp, Group D

Xp4 Xeroderma Pigmentosum Viii, Formerly

Xp8, Formerly

Xp, Group H, Formerly

Xph, Formerly

Xeroderma Pigmentosum Complementation Group D

XP-D

Xp-D/Cs

Cockayne Syndrome B

Cockayne Syndrome Type 2

Cockayne Syndrome, Type B

Cockayne Syndrome Type Ii

CSB

Cockayne Syndrome 2

Cockayne Syndrome Type B

Ckn2

Cockayne Syndrome, Type Ii

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

Brain Sarcoma

Sarcoma Of The Brain

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2

Xeroderma Pigmentosum Group E

Xeroderma Pigmentosum, Group E

Xeroderma Pigmentosum V

Xp Group E

Xp5

Xpe

Xeroderma Pigmentosum, Complementation Group E

Xeroderma Pigmentosum, Complementation Group B

Xeroderma Pigmentosum Group B

Xeroderma Pigmentosum, Group B

XPB

Xpbc

Xp Group B

Xp, Group B

Xeroderma Pigmentosum Complementation Group B

XP-B

Xeroderma Pigmentosum Group B With Cockayne Syndrome

Xeroderma Pigmentosum Ii

Xp2

Xp-B/Cs

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

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

Ocular Cancer

Eye Neoplasm

Eye Carcinoma

Eye Cancer

Eye Neoplasms

Malignant Eye Neoplasm

Neoplasm Of Eye

Neoplasm Of Eye Proper

Ocular Tumor

Carcinoma Of Eye

Ocular Carcinoma

Malignant Tumor Of Eye

Photoparoxysmal Response 1

Photosensitivity Disease

Photodermatitis

Photosensitivity Disorders

PPR1

Ppr

Photosensitivity

Photoconvulsive Reaction

Epilepsy, Photogenic

Photosensitivity Of Skin

Dermatitis, Phototoxic

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

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Actinic Keratosis

Solar Keratosis

Actinic Keratosis

Senile Hyperkeratosis

Sk - Solar Keratosis

Keratosis, Actinic

Seborrheic Keratosis

Ak - [Actinic Keratosis]

Sk - [Solar Keratosis]

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus XPA MGD MGI:99135
Canis familiaris XPA VGNC VGNC:48455
Macaca mulatta XPA VGNC VGNC:78808
Bos taurus XPA VGNC VGNC:36992
Rattus norvegicus XPA RGD RGD:1308769
Felis catus XPA VGNC VGNC:103008