1. Gene
  2. RFC1 - replication factor C subunit 1 Gene

RFC1 - replication factor C subunit 1 Gene

中文名称:复制因子 C 亚基 1

种属: Homo sapiens

同用名: A1; RFC; PO-GA; RECC1; CANVAS; MHCBFB; RFC140

基因 ID: 5981 | 基因类型: protein coding

关于 RFC1

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:39,287,456-39,366,362 (from NCBI)

This gene has 16 transcripts (splice variants), 215 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 16.8), thyroid (RPKM 15.7) and 25 other tissues.

功能概要

该基因编码复制因子 C 的大亚基,这是一种五亚基 DNA 聚合酶辅助蛋白,是真核 DNA 复制和修复所需的 DNA 依赖性 ATP 酶。大亚基充当 DNA 聚合酶的激活剂,结合引物的 3' 端,并促进两条链的协调合成。它也可能在端粒稳定性中起作用。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 3 月]

This gene encodes the large subunit of replication factor C, a five subunit DNA Polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

RFC1 基因产物(4)

mRNA Protein Name
NM_001204747.2 NP_001191676.1 replication factor C subunit 1 isoform 2
NM_001363495.2 NP_001350424.1 replication factor C subunit 1 isoform 3
NM_001363496.2 NP_001350425.1 replication factor C subunit 1 isoform 4
NM_002913.5 NP_002904.3 replication factor C subunit 1 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 clamp unloader activity IMP
IMP: 通过突变表型推断
23277426 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9488738 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA-templated DNA replication IDA
IDA: 通过直接分析推断
9488738 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA replication factor C complex IDA
IDA: 通过直接分析推断
9488738 GOA
part of DNA replication factor C complex IPI
IPI: 通过物理相互作用推断
9488738 GOA
part of Elg1 RFC-like complex IDA
IDA: 通过直接分析推断
23277426 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

RFC1 蛋白结构

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (404 - 479)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (648 - 774)

RFC1

RFC1: Replication factor RFC1 C terminal domain (915 - 1068)

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  • 1148 a.a.
蛋白主名 其他名称

replication factor C subunit 1

A1 140 kDa subunit

RFC1 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 RFC1 P35251 RFC2 Homo sapiens P35250
Solution Sedimentation
9488738
Intra RFC1 P35251 RFC2 Homo sapiens P35250
Pull Down
9488738
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
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome

CANVAS

Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome

Cabv Syndrome

Cerebellar Ataxia With Bilateral Vestibulopathy Syndrome

Ataxia, Cerebellar, Neuropathy, And Vestibular Areflexia Syndrome

Hereditary Late-Onset Parkinson Disease

Autosomal Dominant Late-Onset Parkinson Disease

Lopd

Hereditary Late Onset Parkinson Disease

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Spinocerebellar Ataxia 37

Spinocerebellar Ataxia Type 37

SCA37

Spinocerebellar Ataxia With Altered Vertical Eye Movements

Adie Pupil

Adie Syndrome

Holmes-Adie Syndrome

Poorly Reacting Pupils

Adie'S Pupil Or Syndrome

Adie'S Pupil Syndrome

Adie'S Syndrome

Adie'S Pupil

Has

Tonic, Sluggishly Reacting Pupil And Hypoactive Or Absent Tendon Reflexes

Tonic Pupil-Tendon Areflexia Syndrome

ADIEP

Tonic Pupil

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
Bos taurus RFC1 VGNC VGNC:106894
Canis familiaris RFC1 VGNC VGNC:45492
Macaca mulatta RFC1 VGNC VGNC:97819
Mus musculus RFC1 MGD MGI:97891
Felis catus RFC1 VGNC VGNC:69294
Rattus norvegicus RFC1 RGD RGD:620619