HELQ (helicase, POLQ like)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 113510
Gene name Helicase, POLQ like
Gene symbol HELQ
Synonyms (NCBI Gene)
HEL308
Chromosome 4
Chromosome location 4q21.23
Summary HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT048983 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 19995904
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0004386 Function Helicase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606769 18536 ENSG00000163312
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDG4
Protein name Helicase POLQ-like (EC 5.6.2.4) (Mus308-like helicase) (POLQ-like helicase)
Protein function Single-stranded 3'-5' DNA helicase that plays a key role in homology-driven double-strand break (DSB) repair (PubMed:11751861, PubMed:19995904, PubMed:21398521, PubMed:24005041, PubMed:24005565, PubMed:34316696, PubMed:34937945). Involved in dif
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 338 → 508 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 562 → 712 Helicase conserved C-terminal domain Family
Sequence 
MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELVPGDEGKEEEEMVAENRRRKTAGVLP
VEVQPLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEVDMFGDYDSFTENSFI
AQVDDLEQKYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGY
EGVTIEPGADLLYDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCI
EQPQQNDESSSKVRTSSDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEIN
VAKKTVESSSNDLGPFYSLPSKVRDLYAQFKGIEKLYEWQHTCLTLNSVQERKNLIYSLP
TSGGKTLVAEILMLQELLCCRKDVLMILPYVAIVQEKISGLSSFGIELGFFVEEYAGSKG
RFPPTKRREKKSLYIATIEKGHSLVNSLIETGRIDSLGLVVVDELHMIGEGSRGATLEMT
LAKILYTSKTTQIIGMSATLNNVEDLQKFLQAEYYTSQFRPVELKEYLKINDTIYEVDSK
AENGMTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYSCLVFCPSKKNCENVAEMICKF
LSKEYLKHKEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYS
TGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGRAGRAGIDTIGESI
LILQEKDKQQVLELITKPLENCYSHLVQEFTKGIQTLFLSLIGLKIATNLDDIYHFMNGT
FFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGRASFKG
TIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQLSPAE
QNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMP
RGYIQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAELIPLMEVTGVL
EGRAKQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEV
EELLRLPSDFPGAVASSTDKA
Sequence length 1101
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
34
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign rs201729951 RCV005938797
HELQ-related disorder Likely benign; Benign; Uncertain significance rs144287404, rs181780148, rs201729951, rs146273386, rs767278047, rs7665103, rs148390983, rs1494961, rs150006112, rs74573079, rs17006794, rs17006837, rs59255439, rs2530181416, rs13141136
View all (17 more)		 RCV003919191
RCV003907088
RCV003914704
RCV003929739
RCV003981590
RCV003974353
RCV003906939
RCV003982500
RCV003911759
RCV003916806
RCV003917018
RCV003973943
RCV003973981
RCV003967257
RCV003977260
RCV003941948
RCV003937373
RCV003944587
RCV003954305
RCV003981209
RCV003917065
RCV003959218
RCV003951362
RCV003944775
RCV003957098
RCV003921942
RCV003922108
RCV003932163
RCV003952290
RCV003976431
RCV003905828
RCV003926215
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 27792995
Carcinoma Ovarian Epithelial Associate 29572031
Digestive System Neoplasms Associate 21437268
DNA Repair Deficiency Disorders Associate 37777152
Esophageal Squamous Cell Carcinoma Associate 23504502
Kotzot Richter syndrome Associate 33485349
Leukemia Lymphocytic Chronic B Cell Associate 33485349
Ovarian Neoplasms Associate 24005565
Primary Ovarian Insufficiency Associate 36099812
Squamous Cell Carcinoma of Head and Neck Associate 22052802