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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5965
Gene name	RecQ like helicase
Gene symbol	RECQL
Synonyms (NCBI Gene)	RECONRECQL1RecQ1
Chromosome	12
Chromosome location	12p12.1
Summary	The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in th

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs376037221	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs572725483	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs745659712	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs753723230	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs768075076	ACAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770499904	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs772102674	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1010112210	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1473421036	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565569139	G>ACATGCTACATC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565570957	GAACT>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1591973610	T>C	Likely-pathogenic	Splice acceptor variant
rs1591981379	->ACAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591981391	->CTACATC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591988737	GGAAAATCTAGGAAAAGAAAGTTAAGAAT>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024543	hsa-miR-215-5p	Microarray	19074876
MIRT024543	hsa-miR-215-5p	Microarray	19074876
MIRT026858	hsa-miR-192-5p	Microarray	19074876
MIRT030018	hsa-miR-26b-5p	Microarray	19088304
MIRT049712	hsa-miR-92a-3p	CLASH	23622248
MIRT439791	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439791	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT1299250	hsa-miR-1266	CLIP-seq
MIRT1299251	hsa-miR-223	CLIP-seq
MIRT1299252	hsa-miR-24	CLIP-seq
MIRT1299253	hsa-miR-3136-3p	CLIP-seq
MIRT1299254	hsa-miR-34c-3p	CLIP-seq
MIRT1299255	hsa-miR-369-3p	CLIP-seq
MIRT1299256	hsa-miR-374a	CLIP-seq
MIRT1299257	hsa-miR-374b	CLIP-seq
MIRT1299258	hsa-miR-4270	CLIP-seq
MIRT1299259	hsa-miR-4276	CLIP-seq
MIRT1299260	hsa-miR-4284	CLIP-seq
MIRT1299261	hsa-miR-4441	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299263	hsa-miR-4518	CLIP-seq
MIRT1299264	hsa-miR-4659a-3p	CLIP-seq
MIRT1299265	hsa-miR-4659b-3p	CLIP-seq
MIRT1299266	hsa-miR-4697-3p	CLIP-seq
MIRT1299267	hsa-miR-4778-3p	CLIP-seq
MIRT1299268	hsa-miR-4786-3p	CLIP-seq
MIRT1299269	hsa-miR-548a-5p	CLIP-seq
MIRT1299270	hsa-miR-548ab	CLIP-seq
MIRT1299271	hsa-miR-548ak	CLIP-seq
MIRT1299272	hsa-miR-548b-5p	CLIP-seq
MIRT1299273	hsa-miR-548c-5p	CLIP-seq
MIRT1299274	hsa-miR-548d-5p	CLIP-seq
MIRT1299275	hsa-miR-548h	CLIP-seq
MIRT1299276	hsa-miR-548i	CLIP-seq
MIRT1299277	hsa-miR-548j	CLIP-seq
MIRT1299278	hsa-miR-548k	CLIP-seq
MIRT1299279	hsa-miR-548l	CLIP-seq
MIRT1299280	hsa-miR-548w	CLIP-seq
MIRT1299281	hsa-miR-548y	CLIP-seq
MIRT1299282	hsa-miR-559	CLIP-seq
MIRT1299283	hsa-miR-671-5p	CLIP-seq
MIRT1553072	hsa-miR-607	CLIP-seq
MIRT1299250	hsa-miR-1266	CLIP-seq
MIRT1299252	hsa-miR-24	CLIP-seq
MIRT1299258	hsa-miR-4270	CLIP-seq
MIRT1299260	hsa-miR-4284	CLIP-seq
MIRT1299261	hsa-miR-4441	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299263	hsa-miR-4518	CLIP-seq
MIRT2089069	hsa-miR-4690-3p	CLIP-seq
MIRT2089070	hsa-miR-4719	CLIP-seq
MIRT2089071	hsa-miR-4762-5p	CLIP-seq
MIRT1299268	hsa-miR-4786-3p	CLIP-seq
MIRT1299283	hsa-miR-671-5p	CLIP-seq
MIRT1299250	hsa-miR-1266	CLIP-seq
MIRT1299252	hsa-miR-24	CLIP-seq
MIRT1299258	hsa-miR-4270	CLIP-seq
MIRT1299260	hsa-miR-4284	CLIP-seq
MIRT1299261	hsa-miR-4441	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299263	hsa-miR-4518	CLIP-seq
MIRT1299268	hsa-miR-4786-3p	CLIP-seq
MIRT2313898	hsa-miR-561	CLIP-seq
MIRT1299283	hsa-miR-671-5p	CLIP-seq
MIRT1299253	hsa-miR-3136-3p	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299264	hsa-miR-4659a-3p	CLIP-seq
MIRT1299265	hsa-miR-4659b-3p	CLIP-seq
MIRT1299267	hsa-miR-4778-3p	CLIP-seq
MIRT2610479	hsa-miR-1251	CLIP-seq
MIRT2610480	hsa-miR-1283	CLIP-seq
MIRT2610481	hsa-miR-129-5p	CLIP-seq
MIRT2610482	hsa-miR-219-2-3p	CLIP-seq
MIRT2610483	hsa-miR-2964a-3p	CLIP-seq
MIRT2610484	hsa-miR-331-5p	CLIP-seq
MIRT2610485	hsa-miR-3682-5p	CLIP-seq
MIRT2610486	hsa-miR-4307	CLIP-seq
MIRT2610487	hsa-miR-4452	CLIP-seq
MIRT2610488	hsa-miR-4652-3p	CLIP-seq
MIRT2610489	hsa-miR-4662a-5p	CLIP-seq
MIRT2089069	hsa-miR-4690-3p	CLIP-seq
MIRT2610490	hsa-miR-4773	CLIP-seq
MIRT2610491	hsa-miR-4803	CLIP-seq
MIRT2610492	hsa-miR-490-3p	CLIP-seq
MIRT2610493	hsa-miR-548c-3p	CLIP-seq
MIRT2610494	hsa-miR-577	CLIP-seq
MIRT2610495	hsa-miR-618	CLIP-seq
MIRT2610496	hsa-miR-649	CLIP-seq
MIRT2610497	hsa-miR-653	CLIP-seq
MIRT2610479	hsa-miR-1251	CLIP-seq
MIRT2610480	hsa-miR-1283	CLIP-seq
MIRT2610481	hsa-miR-129-5p	CLIP-seq
MIRT2610482	hsa-miR-219-2-3p	CLIP-seq
MIRT2610483	hsa-miR-2964a-3p	CLIP-seq
MIRT2610485	hsa-miR-3682-5p	CLIP-seq
MIRT2610486	hsa-miR-4307	CLIP-seq
MIRT2610487	hsa-miR-4452	CLIP-seq
MIRT2610488	hsa-miR-4652-3p	CLIP-seq
MIRT2089069	hsa-miR-4690-3p	CLIP-seq
MIRT2610490	hsa-miR-4773	CLIP-seq
MIRT2610491	hsa-miR-4803	CLIP-seq
MIRT2610492	hsa-miR-490-3p	CLIP-seq
MIRT2610495	hsa-miR-618	CLIP-seq
MIRT2610496	hsa-miR-649	CLIP-seq
MIRT2610497	hsa-miR-653	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	11562355
GO:0003678	Function	DNA helicase activity	TAS	7527136, 7961977
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	9168958, 15886194, 23396353, 35025765, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	31772289, 35025765
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7961977
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	7961977
GO:0006310	Process	DNA recombination	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IDA	35025765
GO:0036121	Function	Double-stranded DNA helicase activity	IDA	35025765
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	8056767, 35025765
GO:0043138	Function	3'-5' DNA helicase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990814	Function	DNA/DNA annealing activity	IDA	19177149

MIM	HGNC	e!Ensembl
600537	9948	ENSG00000004700

P46063

Protein name

ATP-dependent DNA helicase Q1 (EC 5.6.2.4) (DNA 3'-5' helicase Q1) (DNA helicase, RecQ-like type 1) (RecQ1) (DNA-dependent ATPase Q1) (RecQ protein-like 1)

Protein function

DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and doub

PDB

2V1X , 2WWY , 4U7D , 6JTZ , 8YRS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	93 → 264	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	299 → 409	Helicase conserved C-terminal domain	Family
PF16124	RecQ_Zn_bind	420 → 479	RecQ zinc-binding	Domain

Tissue specificity

TISSUE SPECIFICITY: High expression in heart, lung, skeletal muscle and kidney, low expression in brain. {ECO:0000269|PubMed:7961977}.

Sequence

MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNE
YDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKS
LCYQLPALCSDGFTLVICPLISLMEDQLMVLKQLGISATMLNASSSKEHVKWVHAEMVNK
NSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAVDEVHCCSQWGHDFRPDYKALGI
LKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFTFTASFNRPNLYYEVRQKPSNTEDF
IEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSLQNLGIHAGAYHANLEPEDKTTVHRKW
SANEIQVVVATVAFGMGIDKPDVRFVIHHSMSKSMENYYQESGRAGRDDMKADCILYYGF
GDIFRISSMVVMENVGQQKLYEMVSYCQNISKCRRVLMAQHFDEVWNSEACNKMCDNCCK
DSAFERKNITEYCRDLIKILKQAEELNEKLTPLKLIDSWMGKGAAKLRVAGVVAPTLPRE
DLEKIIAHFLIQQYLKEDYSFTAYATISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRA
ESSQTCHSEQGDKKMEEKNSGNFQKKAANMLQQSGSKNTGAKKRKIDDA

Sequence length

649

Interactions

View interactions

202

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs1565569139, rs1591973610, rs1591981379, rs1591981391, rs1591988737, rs756434860	RCV000709213 RCV000986144 RCV000986148 RCV000986149 RCV000986156 RCV000986159
Malignant neoplastic disease	Likely pathogenic	rs1220859536	RCV002249152

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal facial shape	Uncertain significance	rs1055710310	RCV001271096
Acute myeloid leukemia	Benign	rs71581965, rs917851	RCV005905620 RCV005905629
Cervical cancer	Uncertain significance; Benign	rs756192830, rs73249910	RCV005901757 RCV005905625
Cholangiocarcinoma	Benign; Likely benign	rs557749011, rs917851	RCV005905634 RCV005905631
Clear cell carcinoma of kidney	Uncertain significance; Benign	rs762454777, rs577735412	RCV005912562 RCV005918427
Colon adenocarcinoma	Benign; Likely benign	rs10712738	RCV005867125
Familial cancer of breast	Benign; Uncertain significance	rs577735412, rs2137374083, rs756192830	RCV005918423 RCV002508968 RCV005901756
Familial ovarian cancer	Uncertain significance; Benign	rs762454777, rs368017481, rs140319286	RCV005369864 RCV005369931 RCV005359945
Familial prostate cancer	Benign	rs577735412	RCV005918428
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs571176607, rs557749011	RCV005912816 RCV005905632
Hepatoblastoma	Uncertain significance	rs2137374485	RCV001843908
Hepatocellular carcinoma	Benign	rs577735412	RCV005918425
Hereditary breast ovarian cancer syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs138663409, rs201573409, rs150306543, rs146924988, rs777565272, rs1942965081, rs776939203, rs773948800, rs202110155	RCV001030657 RCV001030655 RCV001374530 RCV001030660 RCV001030653 RCV001030654 RCV001030656 RCV001030658 RCV001030659
Hereditary cancer	Conflicting classifications of pathogenicity	rs146077019, rs929469507, rs777214281, rs138278747, rs150306543, rs187203579	RCV003492142 RCV005235473 RCV003492143 RCV003492145 RCV003492146 RCV003492147
Lung cancer	Benign	rs71581965	RCV005905624
Malignant lymphoma, large B-cell, diffuse	Benign	rs73249910, rs917852	RCV005905626 RCV005905613
Malignant tumor of esophagus	Benign	rs577735412, rs3759232, rs71581965	RCV005918426 RCV005924546 RCV005905621
Melanoma	Uncertain significance	rs564485792	RCV005866774
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs577735412, rs756192830, rs140319286	RCV005918429 RCV005901758 RCV005909011
RECON progeroid syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs762454777, rs571176607, rs10712738, rs368017481, rs1400162004, rs2137374659, rs773438480, rs1050592994, rs1237988770, rs564685152, rs970717805, rs745427954, rs773219645, rs2540357180, rs2540320876 View all (33 more)	RCV005005895 RCV003761316 RCV005395055 RCV005361658 RCV005005981 RCV005396970 RCV005006015 RCV005006018 RCV005006053 RCV003492707 RCV005006282 RCV005006235 RCV005006140 RCV003762111 RCV005008562 RCV005008572 RCV005008574 RCV005008579 RCV005397423 RCV005399128 RCV005012793 RCV003764478 RCV005006429 RCV003762811 RCV003762822 RCV003762812 RCV005392166 RCV005392257 RCV005010712 RCV005010713 RCV003492144 RCV005231302 RCV005010714 RCV003492148 RCV005392464 RCV005392465 RCV005392530 RCV005012477 RCV005012459 RCV005012526 RCV005232090 RCV005394829 RCV005394830 RCV005012595 RCV005012686 RCV005012669 RCV003226451 RCV005012754 RCV005012743
RECQL-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs201357215, rs762454777, rs368338459, rs74067193, rs148490073, rs770192412, rs948132339, rs746587399, rs1942901642, rs369820039, rs10712738, rs754948157, rs71581968, rs6499, rs147610182 View all (15 more)	RCV003938627 RCV003399184 RCV003938659 RCV003965870 RCV003946235 RCV003893015 RCV003916377 RCV003896140 RCV004750740 RCV004731515 RCV003951636 RCV003980178 RCV003945525 RCV003935642 RCV003962815 RCV003892371 RCV003411562 RCV003403640 RCV003420267 RCV003953249 RCV003945728 RCV003403641 RCV003908122 RCV003923055 RCV003396728 RCV004751875 RCV004751924 RCV004751913 RCV003398976 RCV003414044
Sarcoma	Benign	rs73249910, rs71581965	RCV005905627 RCV005905622
Seizure	Conflicting classifications of pathogenicity	rs150306543	RCV001262455
Short stature	Uncertain significance	rs1055710310	RCV001271096
Squamous cell carcinoma of the head and neck	Uncertain significance	rs1326657671	RCV005931933
Squamous cell lung carcinoma	Benign	rs577735412	RCV005918424
Thymoma	Benign; Likely benign	rs577735412, rs3759232, rs2540334072, rs557749011, rs71581965	RCV005918430 RCV005924547 RCV005931495 RCV005905633 RCV005905623
Uterine carcinosarcoma	Benign	rs917851	RCV005905630
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs10712738, rs74067201, rs3759232, rs73249910	RCV005867126 RCV005918707 RCV005924548 RCV005905628

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32221746
Aging Premature	Associate	23650516
Bloom Syndrome	Associate	11154689, 11309417, 15899892, 16595695, 20826342, 23650516, 24958861, 30936263, 32221746
Breast Neoplasms	Associate	25394896, 25483193, 25945795, 26125302, 26455304, 27248010, 27837030, 29351780, 29914420, 31444271, 32427313, 33468559, 34461861, 35231585, 35965009, 38134458 View all (1 more)
Carcinoma Intraductal Noninfiltrating	Associate	38134458
Carcinoma Ovarian Epithelial	Associate	25424877
Carcinoma Squamous Cell	Associate	24854846
Cutis Laxa Autosomal Recessive Type IIB	Associate	35025765
Drug Related Side Effects and Adverse Reactions	Associate	25228686, 28186131
Genomic Instability	Associate	35025765
Growth Disorders	Associate	35025765
Hereditary Breast and Ovarian Cancer Syndrome	Associate	29351780
Ichthyosis	Associate	35025765
Immunologic Deficiency Syndromes	Associate	27102625, 27859906
Laryngeal Neoplasms	Associate	24213927
Leukopenia	Associate	22031394
Multiple Myeloma	Associate	28186131
Neoplasm Metastasis	Associate	25483193
Neoplasms	Associate	17953710, 23650516, 23951333, 24213927, 24287950, 24854846, 25424877, 25483193, 26125302, 26455304, 27102625, 27248010, 27837030, 33468559, 35231585, 38134458 View all (1 more)
Nose Diseases	Associate	35025765
Osteosarcoma	Associate	24287950, 25867335
Ovarian Neoplasms	Associate	23951333
Pancreatic Neoplasms	Associate	16520463, 16540687, 26725729
Precancerous Conditions	Associate	25228686
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	39495115
Prodromal Symptoms	Associate	25424877
Rothmund Thomson Syndrome	Associate	23650516
Sick Sinus Syndrome	Associate	26725729
Squamous Cell Carcinoma of Head and Neck	Associate	24854846
Syndrome	Associate	35025765
Triple Negative Breast Neoplasms	Associate	31444271
Werner Syndrome	Associate	15899892, 23650516, 25228686

RECQL (RecQ like helicase)