RAD1 (RAD1 checkpoint DNA exonuclease)

Gene Basic Information

Gene Basic Information

symbol:
RAD1
locus group:
protein-coding gene
location:
5p13.2
gene_family:
alias symbol:
HRAD1|REC1
alias name:
exonuclease homolog RAD1|checkpoin…
entrez id:
5810
ensembl gene id:
ENSG00000113456
ucsc gene id:
uc003jix.4
refseq accession:
NM_002853
hgnc_id:
HGNC:9806
approved reserved:
1998-07-31

Chromosome Location

Chromosome Location

5p13.2

Gene Summary

Gene Summary

RAD1（也称为REC1或RAD1A）是DNA损伤修复和细胞周期检查点调控中的一个关键基因，属于RAD基因家族（特别是RAD1/RAD9/RAD17检查点复合体家族）。该基因编码的蛋白质与RAD9和HUS1形成三聚体复合物（称为9-1-1复合物），在DNA损伤响应中起核心作用。RAD1蛋白的主要功能是参与细胞对DNA损伤的感知和信号传导，尤其在复制应激或双链断裂时，它能招募ATR激酶等修复因子到损伤位点，激活检查点通路以阻滞细胞周期，为修复争取时间。该基因的作用位点集中在细胞核内，尤其在DNA损伤位点附近。若RAD1发生功能丧失性突变，会导致检查点功能缺陷，细胞无法正确响应DNA损伤，可能引发基因组不稳定、凋亡抵抗或肿瘤发生。研究表明，RAD1突变与多种癌症（如乳腺癌、卵巢癌）及遗传性疾病（如范可尼贫血）相关。当RAD1过表达时，可能过度激活检查点通路导致细胞周期停滞甚至衰老，而表达降低则会使细胞对DNA损伤敏感，增加突变积累风险。RAD基因家族的共性在于它们均参与维持基因组稳定性，多数成员在DNA损伤修复、同源重组或跨损伤合成中发挥作用。该家族成员通常形成多蛋白复合物（如RAD51在重组修复中的作用），且突变常导致对辐射或化疗药物的超敏反应。

ChineseEnglish

This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

OMIM entry for RAD1     Wikipedia entry for RAD1

Gene Sequence

Gene Sequence

Nucleotide sequence of RAD1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MPLLTQQIQD EDDQYSLVAS LDNVRNLSTI LKAIHFREHA
41TCFATKNGIK VTVENAKCVQ ANAFIQAGIF QEFKVQEESV
81 TFRINLTVL LDCLSIFGSS PMPGTLTALR MCYQGYGYPL
121MLFLEEGGVV TVCKINTQEP EETLDFDFCS TNVINKIILQ
161S EGLREAFS ELDMTSEVLQ ITMSPDKPYF RLSTFGNAGS
201SHLDYPKDSD LMEAFHCNQT QVNRYKISLL KPSTKALVLS
241CK VSIRTDN RGFLSLQYMI RNEDGQICFV EYYCCPDEEV
281PESES
结构预测来自 AlphaFold DB（UniProt: O60671），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of RAD1:           Showing partial SNPs
rs37435       rs2069462       rs2069463       rs2069464       rs2069465       rs2069466       rs2069467       rs2069468       rs2069469       rs2069470       rs2308951       rs2308952       rs2308959       rs6874813       rs11340440       rs13173526       rs41270659      

Gene Expression

Gene Expression

Tissue expression of RAD1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CATTTCCGAGAACATGCCA
59
AAGTGCAGTTAAAGTCCCTG
58
ATTTCCAGCTGCTCAGGAG
59
GTTAAAGTCCCTGGCATAGGA
59
AAATGCAGGAAGTTCCCAC
58
ATCTTGTATCTGTTGACTTGGG
58
CATTTCCGAGAACATGCCA
59
CTCCTGAAATATTCCAGCCTG
59
CATTTCCGAGAACATGCCA
59
CTCCTGAAATATTCCAGCCTG
59
TATTTCCAGCTGCTCAGGAG
60
AATATTCCAGCCCAGGCTG
60
CATTTCCGAGAACATGCCA
59
AATACAGGTGTGAGCCACC
60
CATTTCCGAGAACATGCCA
59
AATACAGGTGTGAGCCACC
60
CATTTCCGAGAACATGCCA
59
AATACAGGTGTGAGCCACC
60
CAAAGGTGTTTGGCGATCC
59
TCTTGGATCTGTTGGGTCAG
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of RAD1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for RAD1:

GO ID
Protein
Source DB
GO:0005634
D6R9A1 (UniProtKB)
IEA
GO:0006281
D6R9A1 (UniProtKB)
IEA
GO:0000077
O60671 (UniProtKB)
IMP
GO:0003684
O60671 (UniProtKB)
TAS
GO:0005515
O60671 (UniProtKB)
IPI
GO:0005515
O60671 (UniProtKB)
IPI
GO:0005515
O60671 (UniProtKB)
IPI
GO:0005515
O60671 (UniProtKB)
IPI
GO:0005634
O60671 (UniProtKB)
IC
GO:0005654
O60671 (UniProtKB)
IDA
GO:0005654
O60671 (UniProtKB)
IDA
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005654
O60671 (UniProtKB)
TAS
GO:0005694
O60671 (UniProtKB)
IDA
GO:0006260
O60671 (UniProtKB)
TAS
GO:0006260
O60671 (UniProtKB)
TAS
GO:0006281
O60671 (UniProtKB)
IEA
GO:0006974
O60671 (UniProtKB)
TAS
GO:0008408
O60671 (UniProtKB)
IDA
GO:0008853
O60671 (UniProtKB)
IEA
GO:0021762
O60671 (UniProtKB)
IEP
GO:0030896
O60671 (UniProtKB)
IBA
GO:0043231
O60671 (UniProtKB)
IDA
GO:0051598
O60671 (UniProtKB)
IGI
GO:0071479
O60671 (UniProtKB)
IDA
GO:0090305
O60671 (UniProtKB)
IEA
GO:0090305
O60671 (UniProtKB)
IEA
GO:0090305
O60671 (UniProtKB)
IEA
GO:1901796
O60671 (UniProtKB)
TAS

Related microRNA

Related microRNA

microRNAs potentially regulating RAD1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Malignant neoplasm of breast 0.002367032 1 0 GAD
Narcolepsy 0.002367032 1 0 GAD
Chronic Lymphocytic Leukemia 0.002367032 1 0 GAD
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 0.001085767 4 0 BeFree
Diabetes 0.000542884 2 0 BeFree
Diabetes Mellitus, Non-Insulin-Dependent 0.000542884 2 0 BeFree
Diabetes Mellitus 0.000542884 2 0 BeFree
Xeroderma pigmentosum, group F 0.000271442 1 0 BeFree
Influenza 0.000271442 1 0 BeFree
Lymphoma 0.000271442 1 0 BeFree

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