2. Gene
  3. ERCC3 - ERCC excision repair 3, TFIIH core complex helicase subunit Gene

ERCC3 - ERCC excision repair 3, TFIIH core complex helicase subunit Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ERCC 切除修复 3，TFIIH 核心复合解旋酶亚基

种属: Homo sapiens

同用名: XPB; BTF2; Ssl2; TTD2; GTF2H; RAD25; TFIIH

基因 ID: 2071 | 基因类型: protein coding

关于 ERCC3

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:127,257,290-127,294,144 (from NCBI)

This gene has 21 transcripts (splice variants), 208 orthologues and is associated with 85 phenotypes. Ubiquitous expression in testis (RPKM 20.2), lymph node (RPKM 14.6) and 25 other tissues.

功能概要

该基因编码一种 ATP 依赖性 DNA 解旋酶，该解旋酶在核苷酸切除修复中发挥作用。编码的蛋白质是基础转录因子 2 (TFIIH) 的一个亚基，因此也在 II 类转录中发挥作用。该基因的突变与着色性干皮病 B、Cockayne 综合征和毛硫营养不良有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 12 月]

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ERCC3 基因产物(3)

mRNA Protein Name
NM_000122.2 NP_000113.1 general transcription and DNA repair factor IIH helicase subunit XPB isoform a
NM_001303416.2 NP_001290345.1 general transcription and DNA repair factor IIH helicase subunit XPB isoform b
NM_001303418.2 NP_001290347.1 general transcription and DNA repair factor IIH helicase subunit XPB isoform b
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 3'-5' DNA helicase activity IDA
IDA: 通过直接分析推断
17466626 GOA
enables 3'-5' DNA helicase activity IMP
IMP: 通过突变表型推断
8663148 GOA
enables ATP hydrolysis activity IDA
IDA: 通过直接分析推断
17466626 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7663514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IMP
IMP: 通过突变表型推断
2167179 GOA
involved in DNA topological change IMP
IMP: 通过突变表型推断
8663148 GOA
involved in apoptotic process IMP
IMP: 通过突变表型推断
8675009 GOA
involved in hair cell differentiation IMP
IMP: 通过突变表型推断
11335038 GOA
involved in nucleotide-excision repair IMP
IMP: 通过突变表型推断
8692841 GOA
involved in nucleotide-excision repair, DNA duplex unwinding IMP
IMP: 通过突变表型推断
17466626 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
16914395 GOA
involved in protein localization IMP
IMP: 通过突变表型推断
17509950 GOA
involved in regulation of mitotic cell cycle phase transition IMP
IMP: 通过突变表型推断
17088560 GOA
involved in response to UV IMP
IMP: 通过突变表型推断
17509950 GOA
involved in response to oxidative stress IMP
IMP: 通过突变表型推断
17614221 GOA
involved in transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9852112 GOA
involved in transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
8663148 GOA
involved in transcription initiation at RNA polymerase II promoter IDA
IDA: 通过直接分析推断
8692841 GOA
involved in transcription-coupled nucleotide-excision repair IDA
IDA: 通过直接分析推断
8663148 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription factor TFIID complex IDA
IDA: 通过直接分析推断
27193682 GOA
part of transcription factor TFIIH core complex IDA
IDA: 通过直接分析推断
8692841 GOA
part of transcription factor TFIIH holo complex IDA
IDA: 通过直接分析推断
9852112 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

ERCC3 蛋白结构

Helicase_C_3

Helicase_C_3: Helicase conserved C-terminal domain (75 - 202)

ResIII

ResIII: Type III restriction enzyme, res subunit (316 - 470)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (579 - 647)

  • 0
  • 200
  • 400
  • 600
  • 782 a.a.
蛋白主名 其他名称

general transcription and DNA repair factor IIH helicase subunit XPB

BTF2 p89

ERCC3 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 ERCC3 P19447 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 ADAMTSL4 Homo sapiens Q6UY14-3
Validated Y2H
32296183
Intra ERCC3 P19447 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Array
32296183
Intra ERCC3 P19447 FXR1 Homo sapiens P51114-2
Y2H Array
32296183
Intra ERCC3 P19447 FXR1 Homo sapiens P51114-2
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 FXR1 Homo sapiens P51114-2
Validated Y2H
32296183
Intra ERCC3 P19447 ROPN1 Homo sapiens Q9HAT0
Validated Y2H
32296183
Intra ERCC3 P19447 ROPN1 Homo sapiens Q9HAT0
Y2H Array
32296183
Intra ERCC3 P19447 ROPN1 Homo sapiens Q9HAT0
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 BLZF1 Homo sapiens Q9H2G9
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 BLZF1 Homo sapiens Q9H2G9
Validated Y2H
32296183
Intra ERCC3 P19447 BLZF1 Homo sapiens Q9H2G9
Y2H Array
32296183
Intra ERCC3 P19447 TRIM14 Homo sapiens Q14142
Y2H Array
32296183
Intra ERCC3 P19447 TRIM14 Homo sapiens Q14142
Validated Y2H
32296183
Intra ERCC3 P19447 TRIM14 Homo sapiens Q14142
Y2H Prey Pooling
32296183
Cross ERCC3 P19447 Psmc5 Mus musculus P62196
Pull Down
9173976
Cross ERCC3 P19447 Psmc5 Mus musculus P62196
Y2H
9173976
Cross ERCC3 P19447 Psmc5 Mus musculus P62196
Anti Bait CoIP
9173976
Intra ERCC3 P19447 PSMC5 Homo sapiens P62195
Anti Bait CoIP
9173976
Intra ERCC3 P19447 PSMC5 Homo sapiens P62195
Anti Tag CoIP
9173976
Intra ERCC3 P19447 KPNA3 Homo sapiens O00505
Y2H Array
32296183
Intra ERCC3 P19447 KPNA3 Homo sapiens O00505
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 XIAP Homo sapiens P98170
Y2H Prey Pooling
25416956
Intra ERCC3 P19447 XIAP Homo sapiens P98170
Y2H Array
31515488
Intra ERCC3 P19447 SNW1 Homo sapiens Q13573
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 SNW1 Homo sapiens Q13573
Validated Y2H
32296183
Intra ERCC3 P19447 SNW1 Homo sapiens Q13573
Y2H Array
32296183
Intra ERCC3 P19447 GTF2H5 Homo sapiens Q6ZYL4
Anti Tag CoIP
28514442
Intra ERCC3 P19447 GTF2H5 Homo sapiens Q6ZYL4
Anti Tag CoIP
33961781
Intra ERCC3 P19447 ERCC2 Homo sapiens P18074
Anti Tag CoIP
16669699
Intra ERCC3 P19447 ERCC2 Homo sapiens P18074
Anti Bait CoIP
19934020
Intra ERCC3 P19447 MAGED1 Homo sapiens Q9Y5V3
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
32296183
Intra ERCC3 P19447 MAGED1 Homo sapiens Q9Y5V3
Y2H Array
32296183
Intra ERCC3 P19447 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra ERCC3 P19447 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 TRIM27 Homo sapiens P14373
Y2H Array
31515488
Intra ERCC3 P19447 CEP70 Homo sapiens Q8NHQ1
Y2H Prey Pooling
25416956
Intra ERCC3 P19447 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
Intra ERCC3 P19447 CEP76 Homo sapiens Q8TAP6
Y2H Prey Pooling
32296183
Intra ERCC3 P19447 CEP76 Homo sapiens Q8TAP6
Validated Y2H
32296183
Intra ERCC3 P19447 RAD23B Homo sapiens P54727
Pull Down
10734143
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 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
Trichothiodystrophy 2, Photosensitive

TTD2

Photosensitive Trichothiodystrophy 2
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
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

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

Ibids

Pibids

Trichothiodystrophy Syndromes
Xeroderma Pigmentosum-Cockayne Syndrome Complex

Xp/Cs Complex
Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs
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
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
Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems
Trichothiodystrophy 1, Photosensitive

TTD1

Tay Syndrome

Trichothiodystrophy With Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Ttdp

Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

Ichthyosis, Congenital, With Trichothiodystrophy

Pibids Syndrome

Photosensitive Trichothiodystrophy 1

Trichothiodystrophy, Photosensitive

Sulfur-Deficient Brittle Hair Syndrome

Ttd-P

Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

Trichothiodystrophy Photosensitive

Trichothiodystrophy, Type 1

Tricho-Thiodystrophy Disorder

Trichothiodystrophy Syndromes

Amish Brittle Hair Brain Syndrome
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
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2
De Sanctis-Cacchione Syndrome

Xerodermic Idiocy

Xeroderma Pigmentosum With Neurologic Manifestation

DSC

Xerodermic Idiocy Of De Sanctis And Cacchione
Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome

XPDS

X-Linked Parkinsonism With Spasticity
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, 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
Trichothiodystrophy 3, Photosensitive

TTD3

Trichothiodystrophy, Complementation Group A

Ttda

Photosensitive Trichothiodystrophy 3

Trichothiodystrophy Complementation Group A
Xfe Progeroid Syndrome

Xpf-Ercc1 Progeroid Syndrome

XFEPS
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
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
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
Prostate Calculus

Calculus Of Prostate

Prostatic Lithiasis

Stone Of Prostate

Prostatic Stone

Prostate Calculi

Prostatolithiasis
Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome

Rts

RTS2

Poikiloderma Of Rothmund-Thomson

Rothmund-Thomson Syndrome Type 2

Congenital Poikiloderma

Poikiloderma Congenitale

Poikiloderma Atrophicans And Cataract

Poikiloderma Congenitale Of Rothmund-Thomson

Poikiloderma Of Rothmund-Thomson Type 2

Rothmund-Thomson Syndrome 2

Erythrokeratodermia Variabilis
Skin Benign Neoplasm

Neoplasm Of Skin By Site

Tumor Of The Skin

Skin Tumor

Benign Neoplasm Of Skin

Skin Neoplasms
Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2
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
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
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-141549 BPK-21 99.56% 否
HY-D2331 ZL-12A probe / 否
HY-RS04480 ERCC3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ERCC3 MGD MGI:95414
Canis familiaris ERCC3 VGNC VGNC:40443
Rattus norvegicus ERCC3 RGD RGD:1307139
Macaca mulatta ERCC3 VGNC VGNC:104526
Felis catus ERCC3 VGNC VGNC:61932
Bos taurus ERCC3 VGNC VGNC:28570
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