HELQ (helicase, POLQ like)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113510
Gene name Gene Name - the full gene name approved by the HGNC.
Helicase, POLQ like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HELQ
Synonyms (NCBI Gene) Gene synonyms aliases
HEL308
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IMP 19995904
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 24005329
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606769 18536 ENSG00000163312
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Show/Hide Text Mining Associations (11)
Associations from Text Mining
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