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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9400
Gene name	RecQ like helicase 5
Gene symbol	RECQL5
Synonyms (NCBI Gene)	RECQ5
Chromosome	17
Chromosome location	17q25.1
Summary	The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been foun

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Show/Hide all (125)

miRTarBase ID	miRNA	Experiments
MIRT1299284	hsa-miR-1197	CLIP-seq
MIRT1299285	hsa-miR-1207-3p	CLIP-seq
MIRT1299286	hsa-miR-122	CLIP-seq
MIRT1299287	hsa-miR-1224-5p	CLIP-seq
MIRT1299288	hsa-miR-1273e	CLIP-seq
MIRT1299289	hsa-miR-1324	CLIP-seq
MIRT1299290	hsa-miR-200b	CLIP-seq
MIRT1299291	hsa-miR-200c	CLIP-seq
MIRT1299292	hsa-miR-3133	CLIP-seq
MIRT1299293	hsa-miR-323b-3p	CLIP-seq
MIRT1299294	hsa-miR-3647-3p	CLIP-seq
MIRT1299295	hsa-miR-3663-5p	CLIP-seq
MIRT1299296	hsa-miR-4252	CLIP-seq
MIRT1299297	hsa-miR-4272	CLIP-seq
MIRT1299298	hsa-miR-429	CLIP-seq
MIRT1299299	hsa-miR-4323	CLIP-seq
MIRT1299300	hsa-miR-4433	CLIP-seq
MIRT1299301	hsa-miR-4459	CLIP-seq
MIRT1299302	hsa-miR-4533	CLIP-seq
MIRT1299303	hsa-miR-4662a-5p	CLIP-seq
MIRT1299304	hsa-miR-4675	CLIP-seq
MIRT1299305	hsa-miR-4710	CLIP-seq
MIRT1299306	hsa-miR-4741	CLIP-seq
MIRT1299307	hsa-miR-4747-5p	CLIP-seq
MIRT1299308	hsa-miR-4751	CLIP-seq
MIRT1299309	hsa-miR-4759	CLIP-seq
MIRT1299310	hsa-miR-4768-3p	CLIP-seq
MIRT1299311	hsa-miR-4773	CLIP-seq
MIRT1299312	hsa-miR-605	CLIP-seq
MIRT1299313	hsa-miR-626	CLIP-seq
MIRT1299314	hsa-miR-760	CLIP-seq
MIRT1299315	hsa-miR-888	CLIP-seq
MIRT1299316	hsa-miR-1200	CLIP-seq
MIRT1299317	hsa-miR-1972	CLIP-seq
MIRT1299318	hsa-miR-3176	CLIP-seq
MIRT1299319	hsa-miR-3667-3p	CLIP-seq
MIRT1299320	hsa-miR-3922-3p	CLIP-seq
MIRT1299321	hsa-miR-4297	CLIP-seq
MIRT1299322	hsa-miR-4324	CLIP-seq
MIRT1299323	hsa-miR-4468	CLIP-seq
MIRT1299324	hsa-miR-4650-5p	CLIP-seq
MIRT1299325	hsa-miR-544b	CLIP-seq
MIRT2089072	hsa-miR-1915	CLIP-seq
MIRT2089073	hsa-miR-3117-5p	CLIP-seq
MIRT2089074	hsa-miR-4726-3p	CLIP-seq
MIRT2089075	hsa-miR-634	CLIP-seq
MIRT2313910	hsa-miR-106a	CLIP-seq
MIRT2313911	hsa-miR-106b	CLIP-seq
MIRT2313912	hsa-miR-150	CLIP-seq
MIRT2313913	hsa-miR-17	CLIP-seq
MIRT2313914	hsa-miR-20a	CLIP-seq
MIRT2313915	hsa-miR-20b	CLIP-seq
MIRT2313916	hsa-miR-302a	CLIP-seq
MIRT2313917	hsa-miR-302b	CLIP-seq
MIRT2313918	hsa-miR-302c	CLIP-seq
MIRT2313919	hsa-miR-302d	CLIP-seq
MIRT2313920	hsa-miR-302e	CLIP-seq
MIRT2313921	hsa-miR-3156-3p	CLIP-seq
MIRT2313922	hsa-miR-3157-5p	CLIP-seq
MIRT2313923	hsa-miR-372	CLIP-seq
MIRT2313924	hsa-miR-373	CLIP-seq
MIRT2313925	hsa-miR-4301	CLIP-seq
MIRT2313926	hsa-miR-512-3p	CLIP-seq
MIRT2313927	hsa-miR-519d	CLIP-seq
MIRT2313928	hsa-miR-520a-3p	CLIP-seq
MIRT2313929	hsa-miR-520b	CLIP-seq
MIRT2313930	hsa-miR-520c-3p	CLIP-seq
MIRT2313931	hsa-miR-520d-3p	CLIP-seq
MIRT2313932	hsa-miR-520e	CLIP-seq
MIRT2313933	hsa-miR-520g	CLIP-seq
MIRT2313934	hsa-miR-520h	CLIP-seq
MIRT2313935	hsa-miR-532-3p	CLIP-seq
MIRT2313936	hsa-miR-93	CLIP-seq
MIRT2465962	hsa-miR-3064-3p	CLIP-seq
MIRT2465963	hsa-miR-3064-5p	CLIP-seq
MIRT2465964	hsa-miR-3125	CLIP-seq
MIRT2465965	hsa-miR-3916	CLIP-seq
MIRT2465966	hsa-miR-604	CLIP-seq
MIRT2465967	hsa-miR-647	CLIP-seq
MIRT2610498	hsa-miR-1285	CLIP-seq
MIRT2465962	hsa-miR-3064-3p	CLIP-seq
MIRT2610499	hsa-miR-3187-5p	CLIP-seq
MIRT2610500	hsa-miR-320e	CLIP-seq
MIRT2610501	hsa-miR-3652	CLIP-seq
MIRT2610502	hsa-miR-3661	CLIP-seq
MIRT2610503	hsa-miR-4256	CLIP-seq
MIRT2610504	hsa-miR-4430	CLIP-seq
MIRT2610505	hsa-miR-4642	CLIP-seq
MIRT2610506	hsa-miR-4708-3p	CLIP-seq
MIRT2610507	hsa-miR-4720-5p	CLIP-seq
MIRT2610508	hsa-miR-4799-3p	CLIP-seq
MIRT2610509	hsa-miR-612	CLIP-seq
MIRT2610510	hsa-miR-631	CLIP-seq
MIRT2610511	hsa-miR-671-5p	CLIP-seq
MIRT2689640	hsa-miR-1193	CLIP-seq
MIRT2689641	hsa-miR-1275	CLIP-seq
MIRT2610498	hsa-miR-1285	CLIP-seq
MIRT2689642	hsa-miR-1293	CLIP-seq
MIRT2465962	hsa-miR-3064-3p	CLIP-seq
MIRT2689643	hsa-miR-3132	CLIP-seq
MIRT2610499	hsa-miR-3187-5p	CLIP-seq
MIRT2689644	hsa-miR-3200-5p	CLIP-seq
MIRT2610500	hsa-miR-320e	CLIP-seq
MIRT2689645	hsa-miR-331-3p	CLIP-seq
MIRT2610501	hsa-miR-3652	CLIP-seq
MIRT2610502	hsa-miR-3661	CLIP-seq
MIRT2610503	hsa-miR-4256	CLIP-seq
MIRT2689646	hsa-miR-4292	CLIP-seq
MIRT2610504	hsa-miR-4430	CLIP-seq
MIRT2689647	hsa-miR-4481	CLIP-seq
MIRT2689648	hsa-miR-4483	CLIP-seq
MIRT2689649	hsa-miR-4525	CLIP-seq
MIRT2610505	hsa-miR-4642	CLIP-seq
MIRT2689650	hsa-miR-4649-3p	CLIP-seq
MIRT2689651	hsa-miR-4665-5p	CLIP-seq
MIRT2610506	hsa-miR-4708-3p	CLIP-seq
MIRT2610507	hsa-miR-4720-5p	CLIP-seq
MIRT2689652	hsa-miR-4723-5p	CLIP-seq
MIRT2689653	hsa-miR-4745-5p	CLIP-seq
MIRT2610508	hsa-miR-4799-3p	CLIP-seq
MIRT2610509	hsa-miR-612	CLIP-seq
MIRT2689654	hsa-miR-625	CLIP-seq
MIRT2610510	hsa-miR-631	CLIP-seq
MIRT2610511	hsa-miR-671-5p	CLIP-seq
MIRT2689655	hsa-miR-765	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IMP	22013166
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000993	Function	RNA polymerase II complex binding	IDA	23748380
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	22013166
GO:0003678	Function	DNA helicase activity	NAS	10710432
GO:0003678	Function	DNA helicase activity	TAS	9878247
GO:0004386	Function	Helicase activity	IDA	18003859
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	18562274, 23748380
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22013166
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	NAS	10710432
GO:0005657	Component	Replication fork	IDA	18003859
GO:0005694	Component	Chromosome	IBA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	10710432
GO:0005829	Component	Cytosol	IDA
GO:0006259	Process	DNA metabolic process	NAS	10710432
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	22013166
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	22973052
GO:0006281	Process	DNA repair	TAS	9878247
GO:0006310	Process	DNA recombination	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0010605	Process	Negative regulation of macromolecule metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IDA	23748380
GO:0042802	Function	Identical protein binding	IPI	23748380
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0045934	Process	Negative regulation of nucleobase-containing compound metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051304	Process	Chromosome separation	IMP	22013166
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0072757	Process	Cellular response to camptothecin	IEA
GO:0097550	Component	Transcription preinitiation complex	IDA	22231121
GO:0140097	Function	Catalytic activity, acting on DNA	IEA
GO:1990414	Process	Replication-born double-strand break repair via sister chromatid exchange	IEA
GO:1990506	Process	Mitotic DNA-templated DNA replication	IDA	28575661
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IEA

MIM	HGNC	e!Ensembl
603781	9950	ENSG00000108469

O94762

Protein name

ATP-dependent DNA helicase Q5 (EC 5.6.2.4) (DNA 3'-5' helicase RecQ5) (DNA helicase, RecQ-like type 5) (RecQ5) (RecQ protein-like 5)

Protein function

DNA helicase that plays an important role in DNA replication, transcription and repair (PubMed:20643585, PubMed:22973052, PubMed:28100692). Probably unwinds DNA in a 3'-5' direction (Probable) (PubMed:28100692). Binds to the RNA polymerase II su

PDB

4BK0 , 5LB3 , 5LB5 , 5LB8 , 5LBA , 7ZML , 7ZMM , 7ZMN , 7ZMO , 7ZMP , 7ZMQ , 7ZMR , 7ZMS , 7ZMT , 7ZMV , 8RL5 , 8RL6 , 8RL9 , 8RLA , 9EI1 , 9EI2 , 9EI3 , 9EI4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	31 → 203	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	243 → 354	Helicase conserved C-terminal domain	Family
PF16124	RecQ_Zn_bind	365 → 435	RecQ zinc-binding	Domain
PF06959	RecQ5	625 → 827	RecQ helicase protein-like 5 (RecQ5)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9878247}.

Sequence

MSSHHTTFPFDPERRVRSTLKKVFGFDSFKTPLQESATMAVVKGNKDVFVCMPTGAGKSL
CYQLPALLAKGITIVVSPLIALIQDQVDHLLTLKVRVSSLNSKLSAQERKELLADLEREK
PQTKILYITPEMAASSSFQPTLNSLVSRHLLSYLVVDEAHCVSQWGHDFRPDYLRLGALR
SRLGHAPCVALTATATPQVQEDVFAALHLKKPVAIFKTPCFRANLFYDVQFKELISDPYG
NLKDFCLKALGQEADKGLSGCGIVYCRTREACEQLAIELSCRGVNAKAYHAGLKASERTL
VQNDWMEEKVPVIVATISFGMGVDKANVRFVAHWNIAKSMAGYYQESGRAGRDGKPSWCR
LYYSRNDRDQVSFLIRKEVAKLQEKRGNKASDKATIMAFDALVTFCEELGCRHAAIAKYF
GDALPACAKGCDHCQNPTAVRRRLEALERSSSWSKTCIGPSQGNGFDPELYEGGRKGYGD
FSRYDEGSGGSGDEGRDEAHKREWNLFYQKQMQLRKGKDPKIEEFVPPDENCPLKEASSR
RIPRLTVKAREHCLRLLEEALSSNRQSTRTADEADLRAKAVELEHETFRNAKVANLYKAS
VLKKVADIHRASKDGQPYDMGGSAKSCSAQAEPPEPNEYDIPPASHVYSLKPKRVGAGFP
KGSCPFQTATELMETTRIREQAPQPERGGEHEPPSRPCGLLDEDGSEPLPGPRGEVPGGS
AHYGGPSPEKKAKSSSGGSSLAKGRASKKQQLLATAAHKDSQSIARFFCRRVESPALLAS
APEAEGACPSCEGVQGPPMAPEKYTGEEDGAGGHSPAPPQTEECLRERPSTCPPRDQGTP
EVQPTPAKDTWKGKRPRSQQENPESQPQKRPRPSAKPSVVAEVKGSVSASEQGTLNPTAQ
DPFQLSAPGVSLKEAANVVVKCLTPFYKEGKFASKELFKGFARHLSHLLTQKTSPGRSVK
EEAQNLIRHFFHGRARCESEADWHGLCGPQR

Sequence length

991

Interactions

View interactions

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 (19)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECQL5-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anaplasia	Anaplasia	BEFREE	26586793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	30817846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25394896, 26586793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	30107528	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25394896, 26586793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38077434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27764811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	24213927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26686625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21210765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	34285288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	24152769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29747023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	24213927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29747023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25394896, 26586793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24213927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18719387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18003859, 18719387, 20231364, 27764811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21210765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	27859906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22905093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26844521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	26844521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18003859, 21402780, 26499077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24287950, 25867335, 26499077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24287950, 25867335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18719387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	27764811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31231988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31231988, 34822842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27764811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	24152769, 28180303		★★★★★ ★☆☆☆☆ Found in Text Mining only

RECQL5 (RecQ like helicase 5)