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Protein

Helicase POLQ-like

Gene

HELQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi359 – 366ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • double-strand break repair via homologous recombination Source: UniProtKB
  • RNA secondary structure unwinding Source: GO_Central

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163312.10.
HGNCiHGNC:18536. HELQ.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi365K → M: Abolishes ATPase and DNA helicase activity. 1 Publication1

Organism-specific databases

DisGeNETi113510.
OpenTargetsiENSG00000163312.
PharmGKBiPA164720529.

Polymorphism and mutation databases

BioMutaiHELQ.
DMDMi296434521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003290601 – 1101Helicase POLQ-likeAdd BLAST1101

Proteomic databases

EPDiQ8TDG4.
MaxQBiQ8TDG4.
PaxDbiQ8TDG4.
PeptideAtlasiQ8TDG4.
PRIDEiQ8TDG4.

PTM databases

iPTMnetiQ8TDG4.
PhosphoSitePlusiQ8TDG4.

Expressioni

Gene expression databases

BgeeiENSG00000163312.
ExpressionAtlasiQ8TDG4. baseline and differential.
GenevisibleiQ8TDG4. HS.

Organism-specific databases

HPAiHPA036852.
HPA036853.

Interactioni

Subunit structurei

Hexamer (PubMed:11751861). Interacts with POLN (PubMed:19995904).2 Publications

Protein-protein interaction databases

BioGridi125250. 3 interactors.
DIPiDIP-60603N.
IntActiQ8TDG4. 1 interactor.
STRINGi9606.ENSP00000295488.

Structurei

3D structure databases

ProteinModelPortaliQ8TDG4.
SMRiQ8TDG4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini346 – 518Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST173
Domaini566 – 758Helicase C-terminalPROSITE-ProRule annotationAdd BLAST193

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1062 – 1086Sequence analysisAdd BLAST25

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi463 – 466DEAH box4

Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0950. Eukaryota.
COG1204. LUCA.
GeneTreeiENSGT00640000091272.
InParanoidiQ8TDG4.
KOiK19178.
OMAiNSNERGD.
OrthoDBiEOG091G021D.
PhylomeDBiQ8TDG4.
TreeFamiTF105018.

Family and domain databases

InterProiView protein in InterPro
IPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
PfamiView protein in Pfam
PF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
SMARTiView protein in SMART
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiView protein in PROSITE
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDG4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,101
Mass (Da):124,131
Last modified:May 18, 2010 - v2
Checksum:iB9B4B7829B021C3A
GO
Isoform 2 (identifier: Q8TDG4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-99: Missing.
     338-353: EWQHTCLTLNSVQERK → GNAFCWNKKIFFLSLP
     354-1101: Missing.

Note: No experimental confirmation available.
Show »
Length:316
Mass (Da):35,641
Checksum:i61C01CE392542C5D
GO
Isoform 3 (identifier: Q8TDG4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.
     338-353: EWQHTCLTLNSVQERK → GNAFCWNKKIFFLSLP
     354-1101: Missing.

Note: No experimental confirmation available.
Show »
Length:247
Mass (Da):28,036
Checksum:i619445406710B80E
GO
Isoform 4 (identifier: Q8TDG4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     100-136: PNDSEVDMFGDYDSFTENSFIAQVDDLEQKYMQLPEH → VRRTWNLKLQTFGILPRCKELTSFIAFVYFSRLRYRC
     137-1101: Missing.

Note: No experimental confirmation available.
Show »
Length:136
Mass (Da):15,330
Checksum:i0FC8FCE8E7D35F6F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti306V → I in AAL85274 (PubMed:11751861).Curated1
Sequence conflicti306V → I in BAC87559 (PubMed:14702039).Curated1
Sequence conflicti306V → I in AAH95473 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06121335V → E2 PublicationsCorresponds to variant dbSNP:rs6831595Ensembl.1
Natural variantiVAR_055892235L → P. Corresponds to variant dbSNP:rs17006837Ensembl.1
Natural variantiVAR_042643565D → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_055893585P → S. Corresponds to variant dbSNP:rs6817280Ensembl.1
Natural variantiVAR_0558941094V → M. Corresponds to variant dbSNP:rs17006794Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0329411 – 106Missing in isoform 3. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_03294263 – 99Missing in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_032943100 – 136PNDSE…QLPEH → VRRTWNLKLQTFGILPRCKE LTSFIAFVYFSRLRYRC in isoform 4. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_032944137 – 1101Missing in isoform 4. 1 PublicationAdd BLAST965
Alternative sequenceiVSP_032947338 – 353EWQHT…VQERK → GNAFCWNKKIFFLSLP in isoform 2 and isoform 3. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_032948354 – 1101Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST748

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.
CCDSiCCDS3603.1. [Q8TDG4-1]
RefSeqiNP_001284687.1. NM_001297758.1.
NP_001284688.1. NM_001297759.1.
NP_598375.2. NM_133636.3.
UniGeneiHs.480101.

Genome annotation databases

EnsembliENST00000295488; ENSP00000295488; ENSG00000163312. [Q8TDG4-1]
GeneIDi113510.
KEGGihsa:113510.
UCSCiuc003hom.4. human. [Q8TDG4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHELQ_HUMAN
AccessioniPrimary (citable) accession number: Q8TDG4
Secondary accession number(s): Q05DF9
, Q502W9, Q659B8, Q6ZQX4, Q6ZTS4, Q96EX7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: May 18, 2010
Last modified: September 27, 2017
This is version 131 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families