RAD1 RAD1 checkpoint DNA exonuclease [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD1provided by HGNC
Official Full Name: RAD1 checkpoint DNA exonucleaseprovided by HGNC
Primary source: HGNC:HGNC:9806
See related: Ensembl:ENSG00000113456 MIM:603153; AllianceGenome:HGNC:9806
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: REC1; HRAD1
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 6.2), adrenal (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (34905260..34915504, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (35152293..35165170, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (34905365..34915609, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dominant alleles of RAD51, TP53 and XRCC1 combined genotypes indicated a strong protective role against hereditary breast cancer.
Title: Polymorphisms in cancer susceptibility genes XRCC1, RAD51 and TP53 and the risk of breast cancer in Serbian women.
Intramolecular binding of the rad9 C-terminus in the checkpoint clamp Rad9-Hus1-Rad1 is closely linked with its DNA binding.
Title: Intramolecular Binding of the Rad9 C Terminus in the Checkpoint Clamp Rad9-Hus1-Rad1 Is Closely Linked with Its DNA Binding.
Data show models for the ternary PCNA/FEN1/DNA and Rad9-Rad1-Hus1 (9-1-1 complex)/FEN1/DNA assemblies.
Title: Repair complexes of FEN1 endonuclease, DNA, and Rad9-Hus1-Rad1 are distinguished from their PCNA counterparts by functionally important stability.
The RAD1 is loaded to damaged sites where it serves as a platform for the selective recruitment of checkpoint and repair proteins.
Title: 9-1-1: PCNA's specialized cousin.
CK2 plays a crucial role in the ATR-dependent checkpoint pathway through its ability to phosphorylate Ser-341 and Ser-387 of the Rad9 subunit of the Rad9-Hus1-Rad1 complex
Title: Casein kinase 2-dependent phosphorylation of human Rad9 mediates the interaction between human Rad9-Hus1-Rad1 complex and TopBP1.
9-1-1 complex is a component of the mismatch repair involved in MNNG-induced damage response.
Title: Interaction between human mismatch repair recognition proteins and checkpoint sensor Rad9-Rad1-Hus1.
Rad9-Rad1-Hus1 complex enhances in vitro activity of 8-oxoguanine DNA glycosylase.
Title: Repair activities of human 8-oxoguanine DNA glycosylase are stimulated by the interaction with human checkpoint sensor Rad9-Rad1-Hus1 complex.
The DNA binding domain (DBD) within the hLigI catalytic fragment interacts with both PCNA and the heterotrimeric cell-cycle checkpoint clamp, hRad9-hRad1-hHus1 (9-1-1).
Title: The DNA binding domain of human DNA ligase I interacts with both nicked DNA and the DNA sliding clamps, PCNA and hRad9-hRad1-hHus1.
The interdomain connecting loops (IDC loop) of hRad9, hHus1, and hRad1 are largely divergent and unique structural features of the 9-1-1 complex that are proposed to contribute to DNA damage recognition.
Title: Structure and functional implications of the human rad9-hus1-rad1 cell cycle checkpoint complex.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93983 (e-PCR)
- UniSTS:91688

RH92952 (e-PCR)
- UniSTS:86569

D8S2279 (e-PCR)
- UniSTS:473907

D10S2448 (e-PCR)
- UniSTS:474444

G67270 (e-PCR)
- UniSTS:186462

D15S1477 (e-PCR)
- UniSTS:474482

RH80030 (e-PCR)
- UniSTS:87680

csnprad1-pcr1-1 (e-PCR)
- UniSTS:243114

csnprad1-pcr2-4 (e-PCR)
- UniSTS:243115

csnprad1-pcr3-3 (e-PCR)
- UniSTS:243116

STS-R91228 (e-PCR)
- UniSTS:33719

G41777 (e-PCR)
- UniSTS:93115

RH41063 (e-PCR)
- UniSTS:85241

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables damaged DNA binding	TAS Traceable Author Statement more info	PubMed
enables double-stranded DNA 3'-5' DNA exonuclease activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in meiotic recombination checkpoint signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
part_of checkpoint clamp complex	IBA Inferred from Biological aspect of Ancestor more info
part_of checkpoint clamp complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: cell cycle checkpoint protein RAD1

Names: DNA repair exonuclease REC1; DNA repair exonuclease rad1 homolog; RAD1 checkpoint clamp component; RAD1 homolog; cell cycle checkpoint protein Hrad1; checkpoint control protein HRAD1; exonuclease homolog RAD1; rad1-like DNA damage checkpoint protein

NP_002844.1

EC 3.1.11.2

XP_054208998.1

EC 3.1.11.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002853.4 → NP_002844.1 cell cycle checkpoint protein RAD1

See identical proteins and their annotated locations for NP_002844.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

AC026801, AF011905

Consensus CDS

CCDS3905.1

UniProtKB/Swiss-Prot

O60671, O75572, O95304, Q1W161, Q5KSM0, Q5KSM1, Q9UEP1

Related

ENSP00000371469.2, ENST00000382038.7

Conserved Domains (1) summary

pfam02144
Location:17 → 257

Rad1; Repair protein Rad1/Rec1/Rad17

RNA

NR_026591.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC026801, AF090170, BC035771

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

34905260..34915504 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

35152293..35165170 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353023.1 → XP_054208998.1 cell cycle checkpoint protein RAD1 isoform X1

UniProtKB/Swiss-Prot

O60671, O75572, O95304, Q1W161, Q5KSM0, Q5KSM1, Q9UEP1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001033673.1: Suppressed sequence

Description

NM_001033673.1: This RefSeq was permanently suppressed becausse the transcript is a nonsense-mediated decay (NMD) candidate.
NM_133282.1: Suppressed sequence

Description

NM_133282.1: This RefSeq was permanently suppressed because because it represents the wrong CDS beginning at an internal start codon. If the ORF initiates at the normal upstream start codon, then the transcript is a nonsense-medi
NM_133377.2: Suppressed sequence

Description

NM_133377.2: This RefSeq was permanently suppressed because it contains an upstream ORF, translation from which would render it a nonsense-mediated mRNA decay (NMD) candidate.