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

Gene ID: 5810, updated on 10-Dec-2024

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
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Genomic context

See RAD1 in Genome Data Viewer
Location:
5p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34905260..34915504, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35152293..35165170, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34905365..34915609, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900959 Neighboring gene tetratricopeptide repeat domain 23 like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:34866693-34867892 Neighboring gene ribosomal protein L21 pseudogene 54 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:34915193-34915798 and GRCh37_chr5:34915799-34916404 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:34922818-34924017 Neighboring gene uncharacterized LOC124900961 Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34930148-34930793 Neighboring gene DnaJ heat shock protein family (Hsp40) member C21 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34955801-34955974

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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
 

General protein information

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
XP_054208998.1

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)

  1. NM_002853.4NP_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:17257
    Rad1; Repair protein Rad1/Rec1/Rad17

RNA

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    34905260..34915504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    35152293..35165170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353023.1XP_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

  1. NM_001033673.1: Suppressed sequence

    Description
    NM_001033673.1: This RefSeq was permanently suppressed becausse the transcript is a nonsense-mediated decay (NMD) candidate.
  2. 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
  3. 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.