UniProtKB - Q8TDG4 (HELQ_HUMAN)
Protein
Helicase POLQ-like
Gene
HELQ
Organism
Homo sapiens (Human)
Status
Functioni
Single-stranded DNA-dependent ATPase and 5' to 3' DNA helicase (PubMed:11751861). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).2 Publications
Miscellaneous
ATPase activity is strongly stimulated by single-stranded DNA. Presence of ATP and Mg cofactor are required for helicase activity allowing to unwind duplex oligonucleotides up to 60-70-mer. This helicase activity is stimulated by replication protein RPA that binds to unwound regions and inhibits re-annealing.
Catalytic activityi
- EC:3.6.4.12
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 359 – 366 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- DNA binding Source: UniProtKB-KW
- single-stranded 3'-5' DNA helicase activity Source: FlyBase
GO - Biological processi
- double-strand break repair via homologous recombination Source: UniProtKB
- rRNA processing Source: GO_Central
Keywordsi
Molecular function | DNA-binding, Helicase, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8TDG4 |
Names & Taxonomyi
Protein namesi | Recommended name: Helicase POLQ-like (EC:3.6.4.12)Alternative name(s): Mus308-like helicase POLQ-like helicase |
Gene namesi | Name:HELQ Synonyms:HEL308 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000163312.10 |
HGNCi | HGNC:18536, HELQ |
MIMi | 606769, gene |
neXtProti | NX_Q8TDG4 |
Subcellular locationi
Nucleus
- nucleus Source: GO_Central
Pathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 365 | K → M: Abolishes ATPase and DNA helicase activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 113510 |
OpenTargetsi | ENSG00000163312 |
PharmGKBi | PA164720529 |
Miscellaneous databases
Pharosi | Q8TDG4, Tbio |
Polymorphism and mutation databases
BioMutai | HELQ |
DMDMi | 296434521 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000329060 | 1 – 1101 | Helicase POLQ-likeAdd BLAST | 1101 |
Proteomic databases
EPDi | Q8TDG4 |
jPOSTi | Q8TDG4 |
MassIVEi | Q8TDG4 |
MaxQBi | Q8TDG4 |
PaxDbi | Q8TDG4 |
PeptideAtlasi | Q8TDG4 |
PRIDEi | Q8TDG4 |
ProteomicsDBi | 74283 [Q8TDG4-1] 74284 [Q8TDG4-2] 74285 [Q8TDG4-4] 74286 [Q8TDG4-5] |
PTM databases
GlyConnecti | 2045, 3 N-Linked glycans (1 site) |
GlyGeni | Q8TDG4, 1 site, 3 N-linked glycans (1 site) |
iPTMneti | Q8TDG4 |
PhosphoSitePlusi | Q8TDG4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163312, Expressed in calcaneal tendon and 204 other tissues |
ExpressionAtlasi | Q8TDG4, baseline and differential |
Genevisiblei | Q8TDG4, HS |
Organism-specific databases
HPAi | ENSG00000163312, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q8TDG4
With | #Exp. | IntAct |
---|---|---|
RAD51C [O43502] | 6 | EBI-2802156,EBI-2267048 |
Protein-protein interaction databases
BioGRIDi | 125250, 12 interactors |
DIPi | DIP-60603N |
IntActi | Q8TDG4, 9 interactors |
STRINGi | 9606.ENSP00000295488 |
Miscellaneous databases
RNActi | Q8TDG4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 346 – 518 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 173 | |
Domaini | 566 – 758 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 193 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1062 – 1086 | Sequence analysisAdd BLAST | 25 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 463 – 466 | DEAH box | 4 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0950, Eukaryota |
GeneTreei | ENSGT00940000157350 |
HOGENOMi | CLU_006553_1_0_1 |
InParanoidi | Q8TDG4 |
OMAi | NSNERGD |
OrthoDBi | 179246at2759 |
PhylomeDBi | Q8TDG4 |
TreeFami | TF105018 |
Family and domain databases
InterProi | View protein in InterPro IPR011545, DEAD/DEAH_box_helicase_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR036390, WH_DNA-bd_sf |
Pfami | View protein in Pfam PF00270, DEAD, 1 hit PF00271, Helicase_C, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8TDG4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDECGSRIRR RVSLPKRNRP SLGCIFGAPT AAELVPGDEG KEEEEMVAEN
60 70 80 90 100
RRRKTAGVLP VEVQPLLLSD SPECLVLGGG DTNPDLLRHM PTDRGVGDQP
110 120 130 140 150
NDSEVDMFGD YDSFTENSFI AQVDDLEQKY MQLPEHKKHA TDFATENLCS
160 170 180 190 200
ESIKNKLSIT TIGNLTELQT DKHTENQSGY EGVTIEPGAD LLYDVPSSQA
210 220 230 240 250
IYFENLQNSS NDLGDHSMKE RDWKSSSHNT VNEELPHNCI EQPQQNDESS
260 270 280 290 300
SKVRTSSDMN RRKSIKDHLK NAMTGNAKAQ TPIFSRSKQL KDTLLSEEIN
310 320 330 340 350
VAKKTVESSS NDLGPFYSLP SKVRDLYAQF KGIEKLYEWQ HTCLTLNSVQ
360 370 380 390 400
ERKNLIYSLP TSGGKTLVAE ILMLQELLCC RKDVLMILPY VAIVQEKISG
410 420 430 440 450
LSSFGIELGF FVEEYAGSKG RFPPTKRREK KSLYIATIEK GHSLVNSLIE
460 470 480 490 500
TGRIDSLGLV VVDELHMIGE GSRGATLEMT LAKILYTSKT TQIIGMSATL
510 520 530 540 550
NNVEDLQKFL QAEYYTSQFR PVELKEYLKI NDTIYEVDSK AENGMTFSRL
560 570 580 590 600
LNYKYSDTLK KMDPDHLVAL VTEVIPNYSC LVFCPSKKNC ENVAEMICKF
610 620 630 640 650
LSKEYLKHKE KEKCEVIKNL KNIGNGNLCP VLKRTIPFGV AYHHSGLTSD
660 670 680 690 700
ERKLLEEAYS TGVLCLFTCT STLAAGVNLP ARRVILRAPY VAKEFLKRNQ
710 720 730 740 750
YKQMIGRAGR AGIDTIGESI LILQEKDKQQ VLELITKPLE NCYSHLVQEF
760 770 780 790 800
TKGIQTLFLS LIGLKIATNL DDIYHFMNGT FFGVQQKVLL KEKSLWEITV
810 820 830 840 850
ESLRYLTEKG LLQKDTIYKS EEEVQYNFHI TKLGRASFKG TIDLAYCDIL
860 870 880 890 900
YRDLKKGLEG LVLESLLHLI YLTTPYDLVS QCNPDWMIYF RQFSQLSPAE
910 920 930 940 950
QNVAAILGVS ESFIGKKASG QAIGKKVDKN VVNRLYLSFV LYTLLKETNI
960 970 980 990 1000
WTVSEKFNMP RGYIQNLLTG TASFSSCVLH FCEELEEFWV YRALLVELTK
1010 1020 1030 1040 1050
KLTYCVKAEL IPLMEVTGVL EGRAKQLYSA GYKSLMHLAN ANPEVLVRTI
1060 1070 1080 1090 1100
DHLSRRQAKQ IVSSAKMLLH EKAEALQEEV EELLRLPSDF PGAVASSTDK
A
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE3W980 | E3W980_HUMAN | Helicase POLQ-like | HELQ | 1,034 | Annotation score: | ||
E3W982 | E3W982_HUMAN | Helicase POLQ-like | HELQ | 489 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 306 | V → I in AAL85274 (PubMed:11751861).Curated | 1 | |
Sequence conflicti | 306 | V → I in BAC87559 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 306 | V → I in AAH95473 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061213 | 35 | V → E2 PublicationsCorresponds to variant dbSNP:rs6831595Ensembl. | 1 | |
Natural variantiVAR_055892 | 235 | L → P. Corresponds to variant dbSNP:rs17006837Ensembl. | 1 | |
Natural variantiVAR_042643 | 565 | D → N in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_055893 | 585 | P → S. Corresponds to variant dbSNP:rs6817280Ensembl. | 1 | |
Natural variantiVAR_055894 | 1094 | V → M. Corresponds to variant dbSNP:rs17006794Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032941 | 1 – 106 | Missing in isoform 3. 1 PublicationAdd BLAST | 106 | |
Alternative sequenceiVSP_032942 | 63 – 99 | Missing in isoform 2. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_032943 | 100 – 136 | PNDSE…QLPEH → VRRTWNLKLQTFGILPRCKE LTSFIAFVYFSRLRYRC in isoform 4. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_032944 | 137 – 1101 | Missing in isoform 4. 1 PublicationAdd BLAST | 965 | |
Alternative sequenceiVSP_032947 | 338 – 353 | EWQHT…VQERK → GNAFCWNKKIFFLSLP in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 16 | |
Alternative sequenceiVSP_032948 | 354 – 1101 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 748 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF436845 mRNA Translation: AAL85274.1 AK128665 mRNA Translation: BAC87559.1 AC096768 Genomic DNA No translation available. BC015428 mRNA Translation: AAH15428.1 BC095473 mRNA Translation: AAH95473.1 AL512702 mRNA Translation: CAH56359.1 |
CCDSi | CCDS3603.1 [Q8TDG4-1] |
RefSeqi | NP_001284687.1, NM_001297758.1 [Q8TDG4-2] NP_001284688.1, NM_001297759.1 NP_598375.2, NM_133636.3 [Q8TDG4-1] |
Genome annotation databases
Ensembli | ENST00000295488; ENSP00000295488; ENSG00000163312 [Q8TDG4-1] |
GeneIDi | 113510 |
KEGGi | hsa:113510 |
UCSCi | uc003hom.4, human [Q8TDG4-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF436845 mRNA Translation: AAL85274.1 AK128665 mRNA Translation: BAC87559.1 AC096768 Genomic DNA No translation available. BC015428 mRNA Translation: AAH15428.1 BC095473 mRNA Translation: AAH95473.1 AL512702 mRNA Translation: CAH56359.1 |
CCDSi | CCDS3603.1 [Q8TDG4-1] |
RefSeqi | NP_001284687.1, NM_001297758.1 [Q8TDG4-2] NP_001284688.1, NM_001297759.1 NP_598375.2, NM_133636.3 [Q8TDG4-1] |
3D structure databases
SMRi | Q8TDG4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125250, 12 interactors |
DIPi | DIP-60603N |
IntActi | Q8TDG4, 9 interactors |
STRINGi | 9606.ENSP00000295488 |
PTM databases
GlyConnecti | 2045, 3 N-Linked glycans (1 site) |
GlyGeni | Q8TDG4, 1 site, 3 N-linked glycans (1 site) |
iPTMneti | Q8TDG4 |
PhosphoSitePlusi | Q8TDG4 |
Polymorphism and mutation databases
BioMutai | HELQ |
DMDMi | 296434521 |
Proteomic databases
EPDi | Q8TDG4 |
jPOSTi | Q8TDG4 |
MassIVEi | Q8TDG4 |
MaxQBi | Q8TDG4 |
PaxDbi | Q8TDG4 |
PeptideAtlasi | Q8TDG4 |
PRIDEi | Q8TDG4 |
ProteomicsDBi | 74283 [Q8TDG4-1] 74284 [Q8TDG4-2] 74285 [Q8TDG4-4] 74286 [Q8TDG4-5] |
Protocols and materials databases
Antibodypediai | 25213, 59 antibodies |
DNASUi | 113510 |
Genome annotation databases
Ensembli | ENST00000295488; ENSP00000295488; ENSG00000163312 [Q8TDG4-1] |
GeneIDi | 113510 |
KEGGi | hsa:113510 |
UCSCi | uc003hom.4, human [Q8TDG4-1] |
Organism-specific databases
CTDi | 113510 |
DisGeNETi | 113510 |
EuPathDBi | HostDB:ENSG00000163312.10 |
GeneCardsi | HELQ |
HGNCi | HGNC:18536, HELQ |
HPAi | ENSG00000163312, Low tissue specificity |
MIMi | 606769, gene |
neXtProti | NX_Q8TDG4 |
OpenTargetsi | ENSG00000163312 |
PharmGKBi | PA164720529 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0950, Eukaryota |
GeneTreei | ENSGT00940000157350 |
HOGENOMi | CLU_006553_1_0_1 |
InParanoidi | Q8TDG4 |
OMAi | NSNERGD |
OrthoDBi | 179246at2759 |
PhylomeDBi | Q8TDG4 |
TreeFami | TF105018 |
Enzyme and pathway databases
PathwayCommonsi | Q8TDG4 |
Miscellaneous databases
BioGRID-ORCSi | 113510, 4 hits in 848 CRISPR screens |
ChiTaRSi | HELQ, human |
GenomeRNAii | 113510 |
Pharosi | Q8TDG4, Tbio |
PROi | PR:Q8TDG4 |
RNActi | Q8TDG4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163312, Expressed in calcaneal tendon and 204 other tissues |
ExpressionAtlasi | Q8TDG4, baseline and differential |
Genevisiblei | Q8TDG4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011545, DEAD/DEAH_box_helicase_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR036390, WH_DNA-bd_sf |
Pfami | View protein in Pfam PF00270, DEAD, 1 hit PF00271, Helicase_C, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HELQ_HUMAN | |
Accessioni | Q8TDG4Primary (citable) accession number: Q8TDG4 Secondary accession number(s): Q05DF9 Q96EX7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | May 18, 2010 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations