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  2. RPA1 - replication protein A1 Gene

RPA1 - replication protein A1 Gene

中文名称:复制蛋白 A1

种属: Homo sapiens

同用名: HSSB; RF-A; RP-A; REPA1; RPA70; MST075; PFBMFT6

基因 ID: 6117 | 基因类型: protein coding

关于 RPA1

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,830,005-1,900,082 (from NCBI)

This gene has 7 transcripts (splice variants), 268 orthologues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 21.6), ovary (RPKM 19.7) and 25 other tissues.

功能概要

该基因编码异源三聚体复制蛋白 A (RPA) 复合体的最大亚基,与单链 DNA (ssDNA) 结合,形成核蛋白复合体,在 DNA 代谢中起重要作用,参与 DNA 复制、修复、重组,端粒维护,并通过激活共济失调毛细血管扩张和 Rad3 相关蛋白 (ATR) 激酶来协调细胞对 DNA 损伤的反应。核蛋白复合物保护单链 DNA 免受核酸酶的影响,防止形成会干扰修复的二级结构,并协调不同基因组维持因子的募集和离开。该亚基包含四个寡核苷酸/寡糖结合 (OB) 结构域,尽管大多数 ssDNA 结合发生在其中两个结构域中。异源三聚体复合物具有两种不同的 ssDNA 结合模式,即低亲和力和高亲和力模式,这取决于使用的 ssDNA 结合域。不同的结合模式在结合的 DNA 长度和与之相互作用的蛋白质方面不同,从而在调节不同的基因组维持途径中发挥作用。[RefSeq 提供,2017 年 9 月]

This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]

RPA1 基因产物(3)

mRNA Protein Name
NM_001355120.2 NP_001342049.1 replication protein A 70 kDa DNA-binding subunit isoform 2
NM_001355121.2 NP_001342050.1 replication protein A 70 kDa DNA-binding subunit isoform 3
NM_002945.5 NP_002936.1 replication protein A 70 kDa DNA-binding subunit 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 G-rich strand telomeric DNA binding IDA
IDA: 通过直接分析推断
16973897 GOA
enables G-rich strand telomeric DNA binding IMP
IMP: 通过突变表型推断
26041456 GOA
enables chromatin-protein adaptor activity IDA
IDA: 通过直接分析推断
35597237 GOA
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
1311258 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
8990123 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
27248496 GOA
involved in DNA repair IDA
IDA: 通过直接分析推断
20545304 GOA
involved in DNA repair IMP
IMP: 通过突变表型推断
18469000 GOA
involved in DNA replication IMP
IMP: 通过突变表型推断
9430682 GOA
involved in base-excision repair IDA
IDA: 通过直接分析推断
9765279 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
17765923 GOA
involved in mismatch repair IMP
IMP: 通过突变表型推断
9430682 GOA
involved in nucleotide-excision repair IMP
IMP: 通过突变表型推断
9430682 GOA
involved in protein localization to chromosome IDA
IDA: 通过直接分析推断
27723717 GOA
involved in protein localization to site of double-strand break IDA
IDA: 通过直接分析推断
35597237 GOA
involved in telomere maintenance IMP
IMP: 通过突变表型推断
17959650 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
11927569 GOA
part of DNA replication factor A complex IPI
IPI: 通过物理相互作用推断
7760808 GOA
colocalizes with PML body IDA
IDA: 通过直接分析推断
17959650 GOA
located in PML body IDA
IDA: 通过直接分析推断
16135809 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17959650 GOA
located in site of DNA damage IMP
IMP: 通过突变表型推断
27248496 GOA
is active in site of double-strand break IDA
IDA: 通过直接分析推断
35597237 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

RPA1 蛋白结构

Rep-A_N

Rep-A_N: Replication factor-A protein 1, N-terminal domain (5 - 104)

tRNA_anti-codon

tRNA_anti-codon: OB-fold nucleic acid binding domain (197 - 281)

Rep_fac-A_C

Rep_fac-A_C: Replication factor-A C terminal domain (461 - 606)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 616 a.a.
蛋白主名 其他名称

replication protein A 70 kDa DNA-binding subunit

MSTP075

RPA1 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 RPA1 P27694 PRIMPOL Homo sapiens Q96LW4
Anti Tag CoIP
24126761
Intra RPA1 P27694 PRIMPOL Homo sapiens Q96LW4
TAP
24126761
Intra RPA1 P27694 PRIMPOL Homo sapiens Q96LW4
Pull Down
24126761
Intra RPA1 P27694 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
Intra RPA1 P27694 MTUS2 Homo sapiens Q5JR59-3
Validated Y2H
32296183
Intra RPA1 P27694 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
Intra RPA1 P27694 RPA4 Homo sapiens Q13156
Anti Bait CoIP
7760808
Intra RPA1 P27694 RPA4 Homo sapiens Q13156
Y2H
7760808
Intra RPA1 P27694 HSPA6 Homo sapiens P17066
Y2H Prey Pooling
32296183
Intra RPA1 P27694 HSPA6 Homo sapiens P17066
Y2H Array
32296183
Intra RPA1 P27694 WRN Homo sapiens Q14191
Pull Down
15965237
Intra RPA1 P27694 WRN Homo sapiens Q14191
TAP
24126761
Intra RPA1 P27694 WRN Homo sapiens Q14191
ELISA
15965237
Intra RPA1 P27694 WRN Homo sapiens Q14191
ELISA
15735006
Cross RPA1 P27694 lt_sv40 Simian virus 40 P03070
CoIP
17666013
Cross RPA1 P27694 lt_sv40 Simian virus 40 P03070
Experimental Interac
8381428
Intra RPA1 P27694 BLM Homo sapiens P54132
TAP
24126761
Intra RPA1 P27694 BLM Homo sapiens P54132
ELISA
15965237
Intra RPA1 P27694 RPA2 Homo sapiens P15927
TAP
24126761
Intra RPA1 P27694 RPA2 Homo sapiens P15927
TAP
24981860
Intra RPA1 P27694 RPA2 Homo sapiens P15927
Anti Tag CoIP
26496610
Intra RPA1 P27694 RPA2 Homo sapiens P15927
Y2H Array
32296183
Intra RPA1 P27694 RPA2 Homo sapiens P15927
Pull Down
20811460
Intra RPA1 P27694 RPA2 Homo sapiens P15927
X-Ray Diffraction
11927569
Intra RPA1 P27694 RPA2 Homo sapiens P15927
Y2H Prey Pooling
32296183
Intra RPA1 P27694 RPA2 Homo sapiens P15927
GMS
12527904
Intra RPA1 P27694 RPA2 Homo sapiens P15927
Anti Bait CoIP
7760808
Intra RPA1 P27694 RPA2 Homo sapiens P15927
Chromatography
2159011
Intra RPA1 P27694 RPA3 Homo sapiens P35244
Anti Bait CoIP
7760808
Intra RPA1 P27694 RPA3 Homo sapiens P35244
TAP
24981860
Intra RPA1 P27694 RPA3 Homo sapiens P35244
Y2H
19338310
Intra RPA1 P27694 RPA3 Homo sapiens P35244
TAP
24126761
Intra RPA1 P27694 RPA3 Homo sapiens P35244
Anti Tag CoIP
26496610
Intra RPA1 P27694 RPA3 Homo sapiens P35244
X-Ray Diffraction
11927569
Intra RPA1 P27694 RPA3 Homo sapiens P35244
Chromatography
2159011
Intra RPA1 P27694 RPA3 Homo sapiens P35244
GMS
12527904
Intra RPA1 P27694 RPA3 Homo sapiens P35244
Pull Down
20811460
Intra RPA1 P27694 MTUS2 Homo sapiens Q5JR59
Y2H Array
25416956
Intra RPA1 P27694 MTUS2 Homo sapiens Q5JR59
Y2H Prey Pooling
25416956
Intra RPA1 P27694 POLA1 Homo sapiens P09884
CoIP
17666013
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
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6

PFBMFT6

Pulmonary Fibrosis, And/Or Bone Marrow Failure, Telomere-Related, 6

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

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

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

Microphthalmia, Syndromic 10

MCOPS10

Moba

Microphthalmia And Brain Atrophy

Syndromic Microphthalmia 10

Microphthalmia-Brain Atrophy Syndrome

Microphthalmia Syndromic 10

Moba Syndrome

Syndromic Microphthalmia Type 10

Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

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

Ibids

Pibids

Trichothiodystrophy Syndromes

Alzheimer Disease 13

AD13

Alzheimer Disease-13

Alzheimer'S Disease 13

Alzheimer'S Disease 13, Late Onset

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Haverhill Fever

Streptobacillosis

Streptobacillary Rat-Bite Fever

Streptobacillary Fever

Rat-Bite Fever Due To Streptobacillus Moniliformis

Erythema Arthriticum Epidemicum

Epidemic Arthritic Erythema

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

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

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

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
Rattus norvegicus RPA1 RGD RGD:1307376
Felis catus RPA1 VGNC VGNC:64726
Canis familiaris RPA1 VGNC VGNC:45702
Bos taurus RPA1 VGNC VGNC:34094
Mus musculus RPA1 MGD MGI:1915525
Others RPA1 NCBI