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

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; AllianceGenome:HGNC:9807
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: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69369293..69414801)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70195078..70240793)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68665120..68710628)

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 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?

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.
Title: Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.
The C-terminal tail of Rad17, iVERGE, binds the 9-1-1 complex independently of AAA+ ATPase domains to provide another clamp-loader interface.
Title: The C-terminal tail of Rad17, iVERGE, binds the 9‒1‒1 complex independently of AAA+ ATPase domains to provide another clamp-loader interface.
The Cell Cycle Checkpoint Gene, RAD17 rs1045051, Is Associated with Prostate Cancer Risk.
Title: The Cell Cycle Checkpoint Gene, RAD17 rs1045051, Is Associated with Prostate Cancer Risk.
Nuclear translocation promotes proteasomal degradation of human Rad17 protein through the N-terminal destruction boxes.
Title: Nuclear translocation promotes proteasomal degradation of human Rad17 protein through the N-terminal destruction boxes.
IQGAP3 interacts with Rad17 to recruit the Mre11-Rad50-Nbs1 complex and contributes to radioresistance in lung cancer.
Title: IQGAP3 interacts with Rad17 to recruit the Mre11-Rad50-Nbs1 complex and contributes to radioresistance in lung cancer.
The noncoding function of NELFA mRNA promotes the development of oesophageal squamous cell carcinoma by regulating the Rad17-RFC2-5 complex.
Title: The noncoding function of NELFA mRNA promotes the development of oesophageal squamous cell carcinoma by regulating the Rad17-RFC2-5 complex.
Human Rad17 is constitutively phosphorylated in vivo on a C-terminal threonine, T670. Rad17-T670 is phosphorylated by casein kinase 1delta/epsilon.
Title: Human Rad17 C-terminal tail is phosphorylated by concerted action of CK1δ/ε and CK2 to promote interaction with the 9-1-1 complex.
The potential G-quadruplex sequence (PQS) of the RAD17 gene promoter was analyzed in different sequence contexts. With two extra nucleotides of the native sequence on either side of the G4, the structure was found to fold into a hybrid-like G4, similar to the hybrid-1 fold that the human telomere sequence can adopt.
Title: The RAD17 Promoter Sequence Contains a Potential Tail-Dependent G-Quadruplex That Downregulates Gene Expression upon Oxidative Modification.
Rad17-S667 in the C-terminal tail is constitutively phosphorylated in vivo in a casein kinase 2-dependent manner, and the phosphorylation is important for 9-1-1 interaction
Title: Casein kinase 2 promotes interaction between Rad17 and the 9-1-1 complex through constitutive phosphorylation of the C-terminal tail of human Rad17.
DDX11 orchestrates jointly with 9-1-1 and its loader, RAD17, DNA damage tolerance at sites of bulky lesions, and endogenous abasic sites. These functions may explain the essential roles of DDX11 and its similarity with 9-1-1 during development.
Title: Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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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)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98911 (e-PCR)
- UniSTS:85546

RAD17_783 (e-PCR)
- UniSTS:277651

G41776 (e-PCR)
- UniSTS:93114

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
contributes_to DNA clamp loader activity	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin-protein adaptor activity	IDA Inferred from Direct Assay more info	PubMed
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 response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication checkpoint signaling	TAS Traceable Author Statement more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in mitotic DNA replication checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic intra-S DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Rad17 RFC-like complex	IEA Inferred from Electronic Annotation more info
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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_001278622.1 → NP_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/TrEMBL

A0A0G2JPT5

Related

ENSP00000482775.1, ENST00000616683.4

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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 ...
NM_002873.1 → NP_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/TrEMBL

A0A0G2JPT5

Related

ENSP00000303134.4, ENST00000305138.8

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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 ...
NM_133338.3 → NP_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/TrEMBL

A0A0G2JPT5

Related

ENSP00000346938.5, ENST00000354868.10

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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 ...
NM_133339.2 → NP_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

A8K8X2, D3DWA5, O75714, O75943, Q7Z3S4, Q9UNK7, Q9UNR7, Q9UNR8, Q9UPF5

UniProtKB/TrEMBL

A0A0G2JPT5

Related

ENSP00000370151.3, ENST00000380774.7

Conserved Domains (3) summary

TIGR00602
Location:13 → 652

rad24; checkpoint protein rad24

pfam13191
Location:111 → 258

AAA_16; AAA ATPase domain

cl17190
Location:135 → 193

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 ...
NM_133340.2 → NP_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/TrEMBL

A0A0G2JNH5

Related

ENSP00000350725.2, ENST00000358030.6

Conserved Domains (1) summary

TIGR00602
Location:1 → 476

rad24; checkpoint protein rad24
NM_133341.2 → NP_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/TrEMBL

A0A0G2JNH5

Related

ENSP00000282891.6, ENST00000282891.10

Conserved Domains (3) summary

pfam03215
Location:3 → 496

Rad17; Rad17 cell cycle checkpoint protein

pfam13191
Location:14 → 161

AAA_16; AAA ATPase domain

cl17190
Location:38 → 96

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 ...
NM_133342.3 → NP_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/TrEMBL

A0A0G2JPT5

Related

ENSP00000346271.3, ENST00000354312.7

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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 ...
NM_133343.2 → NP_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)

AC145132, AL122068

Consensus CDS

CCDS4004.1

UniProtKB/TrEMBL

A0A0G2JPT5

Related

ENSP00000355226.2, ENST00000361732.6

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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 ...
NM_133344.3 → NP_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/TrEMBL

A0A0G2JPT5

Related

ENSP00000311227.7, ENST00000345306.10

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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: 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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

69369293..69414801

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009681.2 → XP_016865170.1 cell cycle checkpoint protein RAD17 isoform X1

UniProtKB/TrEMBL

A0A0G2JPT5

Conserved Domains (3) summary

TIGR00602
Location:2 → 641

rad24; checkpoint protein rad24

pfam13191
Location:100 → 247

AAA_16; AAA ATPase domain

cl17190
Location:124 → 182

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 ...
XM_047417461.1 → XP_047273417.1 cell cycle checkpoint protein RAD17 isoform X2
XM_047417459.1 → XP_047273415.1 cell cycle checkpoint protein RAD17 isoform X1
XM_047417457.1 → XP_047273413.1 cell cycle checkpoint protein RAD17 isoform X1
XM_047417462.1 → XP_047273418.1 cell cycle checkpoint protein RAD17 isoform X2
XM_047417458.1 → XP_047273414.1 cell cycle checkpoint protein RAD17 isoform X1
XM_047417460.1 → XP_047273416.1 cell cycle checkpoint protein RAD17 isoform X1
XM_047417456.1 → XP_047273412.1 cell cycle checkpoint protein RAD17 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

NW_025791777.1 Reference GRCh38.p14 PATCHES

Range

36118..81548

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333021.1 → XP_054188996.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054333025.1 → XP_054189000.1 cell cycle checkpoint protein RAD17 isoform X2
XM_054333023.1 → XP_054188998.1 cell cycle checkpoint protein RAD17 isoform X2
XM_054333020.1 → XP_054188995.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054333027.1 → XP_054189002.1 cell cycle checkpoint protein RAD17 isoform X2
XM_054333016.1 → XP_054188991.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054333024.1 → XP_054188999.1 cell cycle checkpoint protein RAD17 isoform X2
XM_054333022.1 → XP_054188997.1 cell cycle checkpoint protein RAD17 isoform X2
XM_054333018.1 → XP_054188993.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054333019.1 → XP_054188994.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054333026.1 → XP_054189001.1 cell cycle checkpoint protein RAD17 isoform X2
XM_054333017.1 → XP_054188992.1 cell cycle checkpoint protein RAD17 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

152489..198224

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329535.1 → XP_054185510.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054329536.1 → XP_054185511.1 cell cycle checkpoint protein RAD17 isoform X2

UniProtKB/TrEMBL

A0A0G2JP78
XM_054329533.1 → XP_054185508.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054329539.1 → XP_054185514.1 cell cycle checkpoint protein RAD17 isoform X2

UniProtKB/TrEMBL

A0A0G2JP78
XM_054329530.1 → XP_054185505.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054329538.1 → XP_054185513.1 cell cycle checkpoint protein RAD17 isoform X2

UniProtKB/TrEMBL

A0A0G2JP78
XM_054329537.1 → XP_054185512.1 cell cycle checkpoint protein RAD17 isoform X2

UniProtKB/TrEMBL

A0A0G2JP78
XM_054329534.1 → XP_054185509.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054329532.1 → XP_054185507.1 cell cycle checkpoint protein RAD17 isoform X1
XM_054329531.1 → XP_054185506.1 cell cycle checkpoint protein RAD17 isoform X1