2. Gene
  3. RIF1 - replication timing regulatory factor 1 Gene

RIF1 - replication timing regulatory factor 1 Gene

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

中文名称：复制时间调节因子 1

种属: Homo sapiens

基因 ID: 55183 | 基因类型: protein coding

关于 RIF1

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:151,409,902-151,534,435 (from NCBI)

This gene has 12 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in bone marrow (RPKM 5.5), testis (RPKM 5.3) and 25 other tissues.

功能概要

该基因编码的蛋白质与酵母端粒结合蛋白 Rap1 相互作用因子 1 具有同源性。该蛋白质定位于异常端粒，可能参与 DNA 修复。交替剪接导致多个转录本变体。[RefSeq 提供，2010 年 4 月]

This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

RIF1 基因产物(4)

mRNA Protein Name
NM_001177663.2 NP_001171134.1 telomere-associated protein RIF1 isoform 2
NM_001177664.2 NP_001171135.1 telomere-associated protein RIF1 isoform 2
NM_001177665.2 NP_001171136.1 telomere-associated protein RIF1 isoform 2
NM_018151.5 NP_060621.3 telomere-associated protein RIF1 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 protein binding IPI
IPI: 通过物理相互作用推断
22321011 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
28241136 GOA
involved in negative regulation of double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
23333306 GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining IDA
IDA: 通过直接分析推断
28241136 GOA
involved in telomere maintenance in response to DNA damage IDA
IDA: 通过直接分析推断
15583028 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in condensed chromosome IDA
IDA: 通过直接分析推断
15583028 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
28241136 GOA
located in spindle midzone IDA
IDA: 通过直接分析推断
15583028 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

RIF1 蛋白结构

Rif1_N

Rif1_N: Rap1-interacting factor 1 N terminal (19 - 370)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2472 a.a.
蛋白主名 其他名称

telomere-associated protein RIF1

RAP1 interacting factor homolog

RIF1 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
种属内
RIF1 Q5UIP0 PPP1CA Homo sapiens P62136
Y2H
22321011
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
Nemaline Myopathy

Rod Myopathy

Nemaline Body Disease

Nemaline Rod Myopathy

Myopathies, Nemaline

Nm

Nemaline Rod Disease

Rod Body Disease

Rod-Body Myopathy

Myopathy, Nemaline

Congenital Rod Disease

Nem

Nemaline Bodies

Myopathies Nemaline
Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2
Arthrogryposis Multiplex Congenita 6

AMC6

Arthrogryposis Multiplex Congenita-6
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Candida Glabrata

Torulopsis Glabrata
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11971 RIF1 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 RIF1 VGNC VGNC:64627
Mus musculus RIF1 MGD MGI:1098622
Bos taurus RIF1 VGNC VGNC:33965
Macaca mulatta RIF1 VGNC VGNC:76806
Rattus norvegicus RIF1 RGD RGD:1562474
Canis familiaris RIF1 VGNC VGNC:45575
Others RIF1 NCBI
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