Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5884
Gene name	RAD17 checkpoint clamp loader component
Gene symbol	RAD17
Synonyms (NCBI Gene)	CCYCHRAD17R24LRAD17SPRAD24
Chromosome	5
Chromosome location	5q13.2
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 w

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437456	hsa-miR-182-5p	Luciferase reporter assay	23249749
MIRT736801	hsa-miR-205-5p	Luciferase reporter assayWestern blottingqRT-PCR	31514456
MIRT755406	hsa-miR-506-3p	Luciferase reporter assayWestern blottingqRT-PCR	35924161
MIRT1287381	hsa-miR-127-5p	CLIP-seq
MIRT1287382	hsa-miR-3145-3p	CLIP-seq
MIRT1287383	hsa-miR-3611	CLIP-seq
MIRT1287384	hsa-miR-3646	CLIP-seq
MIRT1287385	hsa-miR-3662	CLIP-seq
MIRT1287386	hsa-miR-3682-5p	CLIP-seq
MIRT1287387	hsa-miR-3908	CLIP-seq
MIRT1287388	hsa-miR-3942-5p	CLIP-seq
MIRT1287389	hsa-miR-4699-3p	CLIP-seq
MIRT1287390	hsa-miR-4703-5p	CLIP-seq
MIRT1287391	hsa-miR-4766-3p	CLIP-seq
MIRT1287392	hsa-miR-494	CLIP-seq
MIRT1287393	hsa-miR-562	CLIP-seq
MIRT1556949	hsa-miR-3200-5p	CLIP-seq
MIRT2085100	hsa-miR-205	CLIP-seq
MIRT2085101	hsa-miR-23a	CLIP-seq
MIRT2085102	hsa-miR-23b	CLIP-seq
MIRT2085103	hsa-miR-23c	CLIP-seq
MIRT2085104	hsa-miR-3140-5p	CLIP-seq
MIRT2085105	hsa-miR-3920	CLIP-seq
MIRT2085106	hsa-miR-4464	CLIP-seq
MIRT2085107	hsa-miR-4540	CLIP-seq
MIRT2085108	hsa-miR-4680-3p	CLIP-seq
MIRT2085109	hsa-miR-4748	CLIP-seq
MIRT2310606	hsa-miR-302f	CLIP-seq
MIRT2310607	hsa-miR-324-5p	CLIP-seq
MIRT2310608	hsa-miR-548g	CLIP-seq
MIRT2310609	hsa-miR-603	CLIP-seq
MIRT1287381	hsa-miR-127-5p	CLIP-seq
MIRT1287383	hsa-miR-3611	CLIP-seq
MIRT1287384	hsa-miR-3646	CLIP-seq
MIRT1287385	hsa-miR-3662	CLIP-seq
MIRT1287387	hsa-miR-3908	CLIP-seq
MIRT2085105	hsa-miR-3920	CLIP-seq
MIRT1287388	hsa-miR-3942-5p	CLIP-seq
MIRT2085106	hsa-miR-4464	CLIP-seq
MIRT2607014	hsa-miR-4524	CLIP-seq
MIRT2607015	hsa-miR-4690-5p	CLIP-seq
MIRT1287390	hsa-miR-4703-5p	CLIP-seq
MIRT2085109	hsa-miR-4748	CLIP-seq
MIRT1287391	hsa-miR-4766-3p	CLIP-seq
MIRT1287392	hsa-miR-494	CLIP-seq
MIRT1287393	hsa-miR-562	CLIP-seq
MIRT2607016	hsa-miR-578	CLIP-seq
MIRT2607017	hsa-miR-581	CLIP-seq
MIRT1287381	hsa-miR-127-5p	CLIP-seq
MIRT1287383	hsa-miR-3611	CLIP-seq
MIRT1287384	hsa-miR-3646	CLIP-seq
MIRT1287385	hsa-miR-3662	CLIP-seq
MIRT1287387	hsa-miR-3908	CLIP-seq
MIRT1287388	hsa-miR-3942-5p	CLIP-seq
MIRT1287390	hsa-miR-4703-5p	CLIP-seq
MIRT1287391	hsa-miR-4766-3p	CLIP-seq
MIRT1287392	hsa-miR-494	CLIP-seq
MIRT1287393	hsa-miR-562	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	TAS	9660800
GO:0000077	Process	DNA damage checkpoint signaling	IBA
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	15149599
GO:0003682	Function	Chromatin binding	IBA
GO:0003689	Function	DNA clamp loader activity	IBA
GO:0003689	Function	DNA clamp loader activity	IEA
GO:0005515	Function	Protein binding	IPI	10593953, 10884395, 15538388, 20424596, 24534091, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9660800
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	10593953
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9660800
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	15538388
GO:0008156	Process	Negative regulation of DNA replication	IMP	14657349
GO:0031389	Component	Rad17 RFC-like complex	IEA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IMP	15538388
GO:0033314	Process	Mitotic DNA replication checkpoint signaling	IBA
GO:0035861	Component	Site of double-strand break	IDA	24534091
GO:0042325	Process	Regulation of phosphorylation	IMP	14657349
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	24534091
GO:1990166	Process	Protein localization to site of double-strand break	IDA	24534091

MIM	HGNC	e!Ensembl
603139	9807	ENSG00000152942

O75943

Protein name

Cell cycle checkpoint protein RAD17 (hRad17) (RF-C/activator 1 homolog)

Protein function

Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage (PubMed:10208430, PubMed:11418864, PubMed:11687627, PubMed:11799063, PubMed:12672690, PubMed:14624239, PubMed:1523

PDB

7Z6H , 8GNN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03215	Rad17	83 → 270		Domain

Tissue specificity

TISSUE SPECIFICITY: Overexpressed in various cancer cell lines and in colon carcinoma (at protein level). Isoform 2 and isoform 3 are the most abundant isoforms in non irradiated cells (at protein level). Ubiquitous at low levels. Highly expressed in test

Sequence

MSKTFLRPKVSSTKVTDWVDPSFDDFLECSGVSTITATSLGVNNSSHRRKNGPSTLESSR
FPARKRGNLSSLEQIYGLENSKEYLSENEPWVDKYKPETQHELAVHKKKIEEVETWLKAQ
VLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNT
ESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLH
EVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLN
RIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSL
KSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLP
SHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADIL
SGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENC
LAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEA
LTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQP
FSAQGDMEENIIIEDYESDGT

Sequence length

681

Interactions

View interactions

	Reactome
			Activation of ATR in response to replication stress HDR through Single Strand Annealing (SSA) Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	24413054	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11555598, 23637229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22048815, 23637229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10232579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11606373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10232579, 11606373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28238011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31845510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10208430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17657792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	BEFREE	17657792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23637229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12631607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	11557112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	17657792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11555598, 23637229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11557112, 11606373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12631607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23687379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10232579, 11557112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11555598, 11557112, 11606373, 12631607, 17657792, 19800577, 20581868, 26437225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11557112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23687379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34511607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	10480350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31514456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31845510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25650659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17657792, 25650659, 31514456		★★★★★ ★☆☆☆☆ Found in Text Mining only
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	BEFREE	30061412		★★★★★ ★☆☆☆☆ Found in Text Mining only

RAD17 (RAD17 checkpoint clamp loader component)