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Entry version 149 (12 Aug 2020)
Sequence version 2 (18 May 2010)
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Protein

Helicase POLQ-like

Gene

HELQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi359 – 366ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8TDG4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Helicase POLQ-like (EC:3.6.4.12)
Alternative name(s):
Mus308-like helicase
POLQ-like helicase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HELQ
Synonyms:HEL308
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163312.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18536, HELQ

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606769, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TDG4

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi365K → M: Abolishes ATPase and DNA helicase activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
113510

Open Targets

More...
OpenTargetsi
ENSG00000163312

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164720529

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TDG4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HELQ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434521

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003290601 – 1101Helicase POLQ-likeAdd BLAST1101

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TDG4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TDG4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TDG4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TDG4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TDG4

PeptideAtlas

More...
PeptideAtlasi
Q8TDG4

PRoteomics IDEntifications database

More...
PRIDEi
Q8TDG4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74283 [Q8TDG4-1]
74284 [Q8TDG4-2]
74285 [Q8TDG4-4]
74286 [Q8TDG4-5]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
2045, 3 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q8TDG4, 1 site, 3 N-linked glycans (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TDG4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TDG4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163312, Expressed in calcaneal tendon and 204 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TDG4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TDG4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000163312, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Hexamer (PubMed:11751861).

Interacts with POLN (PubMed:19995904).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
125250, 12 interactors

Database of interacting proteins

More...
DIPi
DIP-60603N

Protein interaction database and analysis system

More...
IntActi
Q8TDG4, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000295488

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TDG4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8TDG4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini346 – 518Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST173
Domaini566 – 758Helicase C-terminalPROSITE-ProRule annotationAdd BLAST193

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1062 – 1086Sequence analysisAdd BLAST25

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi463 – 466DEAH box4

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0950, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157350

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_006553_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TDG4

KEGG Orthology (KO)

More...
KOi
K19178

Identification of Orthologs from Complete Genome Data

More...
OMAi
NSNERGD

Database of Orthologous Groups

More...
OrthoDBi
179246at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TDG4

TreeFam database of animal gene trees

More...
TreeFami
TF105018

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00270, DEAD, 1 hit
PF00271, Helicase_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00487, DEXDc, 1 hit
SM00490, HELICc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46785, SSF46785, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51192, HELICASE_ATP_BIND_1, 1 hit
PS51194, HELICASE_CTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

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.

Show »
Length:136
Mass (Da):15,330
Checksum:i0FC8FCE8E7D35F6F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E3W982E3W982_HUMAN
Helicase POLQ-like
HELQ
489Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E3W980E3W980_HUMAN
Helicase POLQ-like
HELQ
1,034Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3603.1 [Q8TDG4-1]

NCBI Reference Sequences

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RefSeqi
NP_001284687.1, NM_001297758.1
NP_001284688.1, NM_001297759.1
NP_598375.2, NM_133636.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000295488; ENSP00000295488; ENSG00000163312 [Q8TDG4-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
113510

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:113510

UCSC genome browser

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UCSCi
uc003hom.4, human [Q8TDG4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiQ8TDG4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125250, 12 interactors
DIPiDIP-60603N
IntActiQ8TDG4, 9 interactors
STRINGi9606.ENSP00000295488

PTM databases

GlyConnecti2045, 3 N-Linked glycans (1 site)
GlyGeniQ8TDG4, 1 site, 3 N-linked glycans (1 site)
iPTMnetiQ8TDG4
PhosphoSitePlusiQ8TDG4

Polymorphism and mutation databases

BioMutaiHELQ
DMDMi296434521

Proteomic databases

EPDiQ8TDG4
jPOSTiQ8TDG4
MassIVEiQ8TDG4
MaxQBiQ8TDG4
PaxDbiQ8TDG4
PeptideAtlasiQ8TDG4
PRIDEiQ8TDG4
ProteomicsDBi74283 [Q8TDG4-1]
74284 [Q8TDG4-2]
74285 [Q8TDG4-4]
74286 [Q8TDG4-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
25213, 59 antibodies

The DNASU plasmid repository

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DNASUi
113510

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
113510
DisGeNETi113510
EuPathDBiHostDB:ENSG00000163312.10

GeneCards: human genes, protein and diseases

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GeneCardsi
HELQ
HGNCiHGNC:18536, HELQ
HPAiENSG00000163312, Low tissue specificity
MIMi606769, gene
neXtProtiNX_Q8TDG4
OpenTargetsiENSG00000163312
PharmGKBiPA164720529

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0950, Eukaryota
GeneTreeiENSGT00940000157350
HOGENOMiCLU_006553_1_0_1
InParanoidiQ8TDG4
KOiK19178
OMAiNSNERGD
OrthoDBi179246at2759
PhylomeDBiQ8TDG4
TreeFamiTF105018

Enzyme and pathway databases

PathwayCommonsiQ8TDG4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
113510, 4 hits in 876 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HELQ, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
113510
PharosiQ8TDG4, Tbio

Protein Ontology

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PROi
PR:Q8TDG4
RNActiQ8TDG4, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163312, Expressed in calcaneal tendon and 204 other tissues
ExpressionAtlasiQ8TDG4, baseline and differential
GenevisibleiQ8TDG4, HS

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
IPR036390, WH_DNA-bd_sf
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, 1 hit
PROSITEiView protein in PROSITE
PS51192, HELICASE_ATP_BIND_1, 1 hit
PS51194, HELICASE_CTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHELQ_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TDG4
Secondary accession number(s): Q05DF9
, Q502W9, Q659B8, Q6ZQX4, Q6ZTS4, Q96EX7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: May 18, 2010
Last modified: August 12, 2020
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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