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RAD17 RAD17 checkpoint clamp loader component [ Homo sapiens (human) ]

Gene ID: 5884, updated on 14-Jun-2020

Summary

Official Symbol
RAD17provided by HGNC
Official Full Name
RAD17 checkpoint clamp loader componentprovided by HGNC
Primary source
HGNC:HGNC:9807
See related
Ensembl:ENSG00000152942 MIM:603139
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
CCYC; R24L; RAD24; HRAD17; RAD17SP
Summary
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]
Expression
Broad expression in testis (RPKM 28.4), lymph node (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See RAD17 in Genome Data Viewer
Location:
5q13.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (69369297..69414801)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68665124..68710628)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B9 pseudogene Neighboring gene adenylate kinase 6 Neighboring gene TATA-box binding protein associated factor 9 Neighboring gene MARVEL domain containing 2 Neighboring gene ribosomal protein S27 pseudogene 14

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr Rad17 is required for HIV-1 Vpr-mediated G2 arrest in Rad17-specific siRNA-transfected cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41520

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
DNA replication checkpoint TAS
Traceable Author Statement
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic DNA replication checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Rad17 RFC-like complex IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
cell cycle checkpoint protein RAD17
Names
RAD1 homolog
RAD17 homolog
RF-C activator 1 homolog
Rad17-like protein
cell cycle checkpoint protein (RAD17)

NCBI Reference Sequences (RefSeq)

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_001278622.1NP_001265551.1  cell cycle checkpoint protein RAD17 isoform 1

    See identical proteins and their annotated locations for NP_001265551.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has an alternate 5' terminal exon and lacks an internal exon in the 5' UTR, when compared to variant 1. The encoded protein (isoform 1) is identical to that encoded by variants 1, 5, 6, 7 and 8.
    Source sequence(s)
    AL122068, BX537441
    Consensus CDS
    CCDS4004.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000482775.1, ENST00000616683.4
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  2. NM_002873.1NP_002864.1  cell cycle checkpoint protein RAD17 isoform 1

    See identical proteins and their annotated locations for NP_002864.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has an alternate 5' terminal sequence and lacks an internal exon in the 5' UTR, when compared to variant 1. The encoded protein (isoform 1) is identical to that encoded by variants 1, 5, 6, 7 and 9.
    Source sequence(s)
    AF076838
    Consensus CDS
    CCDS4004.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000303134.4, ENST00000305138.8
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  3. NM_133338.3NP_579916.1  cell cycle checkpoint protein RAD17 isoform 1

    See identical proteins and their annotated locations for NP_579916.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (1). Variants 1, 5, 6, 7, 8 and 9 encode the same isoform.
    Source sequence(s)
    AF017748, AF126424, AK292487
    Consensus CDS
    CCDS4004.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000346938.5, ENST00000354868.10
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  4. NM_133339.2NP_579917.1  cell cycle checkpoint protein RAD17 isoform 2

    See identical proteins and their annotated locations for NP_579917.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' region, which results in an alternate upstream translation start codon, when compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AF085736, BC018110
    Consensus CDS
    CCDS4003.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000370151.3, ENST00000380774.7
    Conserved Domains (3) summary
    TIGR00602
    Location:13652
    rad24; checkpoint protein rad24
    pfam13191
    Location:111258
    AAA_16; AAA ATPase domain
    cl17190
    Location:135193
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  5. NM_133340.2NP_579918.1  cell cycle checkpoint protein RAD17 isoform 3

    See identical proteins and their annotated locations for NP_579918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AF098533, BC018110
    Consensus CDS
    CCDS47226.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000350725.2, ENST00000358030.6
    Conserved Domains (1) summary
    TIGR00602
    Location:1476
    rad24; checkpoint protein rad24
  6. NM_133341.2NP_579919.1  cell cycle checkpoint protein RAD17 isoform 4

    See identical proteins and their annotated locations for NP_579919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon in the 5' UTR and an in-frame exon in the 5' coding region, when compared to variant 1. The resulting isoform (4) is shorter and lacks an internal segment in the N-terminal region, as compared to isoform 1.
    Source sequence(s)
    AF098534, BC018110
    Consensus CDS
    CCDS4005.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000282891.6, ENST00000282891.10
    Conserved Domains (3) summary
    pfam03215
    Location:3496
    Rad17; Rad17 cell cycle checkpoint protein
    pfam13191
    Location:14161
    AAA_16; AAA ATPase domain
    cl17190
    Location:3896
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  7. NM_133342.3NP_579920.1  cell cycle checkpoint protein RAD17 isoform 1

    See identical proteins and their annotated locations for NP_579920.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 5' UTR, when compared to variant 1. The encoded protein (isoform 1) is identical to that encoded by variants 1, 6, 7, 8 and 9.
    Source sequence(s)
    AF017748, AK292487, BC018110
    Consensus CDS
    CCDS4004.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000346271.3, ENST00000354312.7
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  8. NM_133343.1NP_579921.1  cell cycle checkpoint protein RAD17 isoform 1

    See identical proteins and their annotated locations for NP_579921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has an alternate 5' terminal exon, and lacks an internal exon in the 5' UTR, when compared to variant 1. The encoded protein (isoform 1) is identical to that encoded by variants 1, 5, 7, 8 and 9.
    Source sequence(s)
    AL122068
    Consensus CDS
    CCDS4004.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000355226.2, ENST00000361732.6
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  9. NM_133344.3NP_579922.1  cell cycle checkpoint protein RAD17 isoform 1

    See identical proteins and their annotated locations for NP_579922.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two consecutive exons in the 5' UTR, when compared to variant 1. The encoded protein (isoform 1) is identical to that encoded by variants 1, 5, 6, 8 and 9.
    Source sequence(s)
    AF017748, AK292487, AL122068
    Consensus CDS
    CCDS4004.1
    UniProtKB/Swiss-Prot
    O75943
    Related
    ENSP00000311227.7, ENST00000345306.10
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    69369297..69414801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009681.1XP_016865170.1  cell cycle checkpoint protein RAD17 isoform X1

    UniProtKB/Swiss-Prot
    O75943
    Conserved Domains (3) summary
    TIGR00602
    Location:2641
    rad24; checkpoint protein rad24
    pfam13191
    Location:100247
    AAA_16; AAA ATPase domain
    cl17190
    Location:124182
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    152493..198224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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