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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

DNA-dependent ATPase and 5' to 3' DNA helicase.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi359 – 3668ATPPROSITE-ProRule annotation

GO - Molecular functioni

GO - Biological processi

  • double-strand break repair via homologous recombination Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-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

HGNCiHGNC:18536. HELQ.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi365 – 3651K → M: Abolishes ATPase and DNA helicase activity. 1 Publication

Organism-specific databases

PharmGKBiPA164720529.

Polymorphism and mutation databases

BioMutaiHELQ.
DMDMi296434521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11011101Helicase POLQ-likePRO_0000329060Add
BLAST

Proteomic databases

EPDiQ8TDG4.
MaxQBiQ8TDG4.
PaxDbiQ8TDG4.
PeptideAtlasiQ8TDG4.
PRIDEiQ8TDG4.

PTM databases

iPTMnetiQ8TDG4.
PhosphoSiteiQ8TDG4.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA036852.
HPA036853.

Interactioni

Subunit structurei

Hexamer.1 Publication

Protein-protein interaction databases

BioGridi125250. 3 interactions.
DIPiDIP-60603N.
IntActiQ8TDG4. 1 interaction.
STRINGi9606.ENSP00000295488.

Structurei

3D structure databases

ProteinModelPortaliQ8TDG4.
SMRiQ8TDG4. Positions 329-1034.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini346 – 518173Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini566 – 758193Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1062 – 108625Sequence analysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi463 – 4664DEAH box

Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti306 – 3061V → I in AAL85274 (PubMed:11751861).Curated
Sequence conflicti306 – 3061V → I in BAC87559 (PubMed:14702039).Curated
Sequence conflicti306 – 3061V → I in AAH95473 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351V → E.2 Publications
Corresponds to variant rs6831595 [ dbSNP | Ensembl ].
VAR_061213
Natural varianti235 – 2351L → P.
Corresponds to variant rs17006837 [ dbSNP | Ensembl ].
VAR_055892
Natural varianti565 – 5651D → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_042643
Natural varianti585 – 5851P → S.
Corresponds to variant rs6817280 [ dbSNP | Ensembl ].
VAR_055893
Natural varianti1094 – 10941V → M.
Corresponds to variant rs17006794 [ dbSNP | Ensembl ].
VAR_055894

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 106106Missing in isoform 3. 1 PublicationVSP_032941Add
BLAST
Alternative sequencei63 – 9937Missing in isoform 2. 1 PublicationVSP_032942Add
BLAST
Alternative sequencei100 – 13637PNDSE…QLPEH → VRRTWNLKLQTFGILPRCKE LTSFIAFVYFSRLRYRC in isoform 4. 1 PublicationVSP_032943Add
BLAST
Alternative sequencei137 – 1101965Missing in isoform 4. 1 PublicationVSP_032944Add
BLAST
Alternative sequencei338 – 35316EWQHT…VQERK → GNAFCWNKKIFFLSLP in isoform 2 and isoform 3. 2 PublicationsVSP_032947Add
BLAST
Alternative sequencei354 – 1101748Missing in isoform 2 and isoform 3. 2 PublicationsVSP_032948Add
BLAST

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

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

3D structure databases

ProteinModelPortaliQ8TDG4.
SMRiQ8TDG4. Positions 329-1034.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125250. 3 interactions.
DIPiDIP-60603N.
IntActiQ8TDG4. 1 interaction.
STRINGi9606.ENSP00000295488.

PTM databases

iPTMnetiQ8TDG4.
PhosphoSiteiQ8TDG4.

Polymorphism and mutation databases

BioMutaiHELQ.
DMDMi296434521.

Proteomic databases

EPDiQ8TDG4.
MaxQBiQ8TDG4.
PaxDbiQ8TDG4.
PeptideAtlasiQ8TDG4.
PRIDEiQ8TDG4.

Protocols and materials databases

DNASUi113510.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi113510.
GeneCardsiHELQ.
HGNCiHGNC:18536. HELQ.
HPAiHPA036852.
HPA036853.
MIMi606769. gene.
neXtProtiNX_Q8TDG4.
PharmGKBiPA164720529.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiHELQ. human.
GenomeRNAii113510.
PROiQ8TDG4.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHELQ_HUMAN
AccessioniPrimary (citable) accession number: Q8TDG4
Secondary accession number(s): Q05DF9
, Q502W9, Q659B8, Q6ZQX4, Q6ZTS4, Q96EX7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 123 of the entry and version 2 of the sequence. [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

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.

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.