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UniProtKB - P51530 (DNA2_HUMAN)

Entry version 168 (07 Apr 2021)
Sequence version 3 (12 Dec 2006)
Previous versions | rss
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Protein

DNA replication ATP-dependent helicase/nuclease DNA2

Gene

DNA2

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

Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function.8 Publications

<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

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

[4Fe-4S] clusterBy similarityNote: Binds 1 [4Fe-4S] cluster.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi136Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi393Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi396Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi402Iron-sulfur (4Fe-4S)By similarity1

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 bindingi648 – 655ATPSequence analysis8

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Endonuclease, Helicase, Hydrolase, Multifunctional enzyme, Nuclease
Biological processDNA damage, DNA repair, DNA replication
Ligand4Fe-4S, ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51530

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-174437, Removal of the Flap Intermediate from the C-strand
R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69166, Removal of the Flap Intermediate
R-HSA-69473, G2/M DNA damage checkpoint

<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:
DNA replication ATP-dependent helicase/nuclease DNA2
Short name:
hDNA2
Alternative name(s):
DNA replication ATP-dependent helicase-like homolog
Including the following 2 domains:
DNA replication nuclease DNA2 (EC:3.1.-.-)
DNA replication ATP-dependent helicase DNA2 (EC:3.6.4.12)
<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:DNA2
Synonyms:DNA2L, KIAA0083
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2939, DNA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601810, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51530

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000138346.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion, Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression.
Related information in OMIM
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_069905198R → H in PEOA6; the mutant protein has a complete loss of nuclease activity and severely impaired helicase activity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs1272393477Ensembl.1
Natural variantiVAR_069906227K → E in PEOA6; the mutant protein has significantly reduced nuclease and helicase activity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs760412883Ensembl.1
Natural variantiVAR_069907637V → I in PEOA6; the mutant protein has decreased nuclease activity (30% of wild-type) and enhanced helicase activity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs746522359EnsemblClinVar.1
Seckel syndrome 8 (SCKL8)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
Related information in OMIM

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>Mutagenesisi277D → A: Abolishes ability to resect DNA in present of BLM. 3 Publications1
Mutagenesisi654K → E: Abolishes ability to unwind DNA, while it does not affect ability to resect DNA. 4 Publications1

Keywords - Diseasei

Disease variant, Dwarfism, Mental retardation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

More...DisGeNETi		1763

MalaCards human disease database

More...MalaCardsi		DNA2
MIMi615156, phenotype
615807, phenotype

Open Targets

More...OpenTargetsi		ENSG00000138346

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		352470, DNA2-related mitochondrial DNA deletion syndrome

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51530, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DNA2

<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_00000807121 – 1060DNA replication ATP-dependent helicase/nuclease DNA2Add BLAST1060

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylated by EP300, leading to stimulate the 5'-3' endonuclease, the 5'-3' helicase and DNA-dependent ATPase activities, possibly by increasing DNA substrate affinity.1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P51530

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51530

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51530

MaxQB - The MaxQuant DataBase

More...MaxQBi		P51530

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

More...PaxDbi		P51530

PeptideAtlas

More...PeptideAtlasi		P51530

PRoteomics IDEntifications database

More...PRIDEi		P51530

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56322 [P51530-1]
56323 [P51530-2]
56324 [P51530-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51530

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

More...PhosphoSitePlusi		P51530

<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		ENSG00000138346, Expressed in kidney and 161 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51530, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51530, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000138346, Tissue enriched (lymphoid)

<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

Interacts with BLM and WDHD1.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108103, 56 interactors

Protein interaction database and analysis system

More...IntActi		P51530, 22 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000351185

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51530, 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

Secondary structure

11060
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P51530

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni81 – 519Nuclease activityBy similarityAdd BLAST439
Regioni520 – 1060Helicase activityBy similarityAdd BLAST541

<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 DNA2/NAM7 helicase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1805, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00780000122010

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001666_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51530

Identification of Orthologs from Complete Genome Data

More...OMAi		IEEDIWS

Database of Orthologous Groups

More...OrthoDBi		633768at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51530

Family and domain databases

Conserved Domains Database

More...CDDi		cd18808, SF1_C_Upf1, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026851, Dna2
IPR041679, DNA2/NAM7-like_C
IPR041677, DNA2/NAM7_AAA_11
IPR014808, DNA_replication_fac_Dna2_N
IPR027417, P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR10887:SF433, PTHR10887:SF433, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13086, AAA_11, 2 hits
PF13087, AAA_12, 1 hit
PF08696, Dna2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51530-1) [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
MEQLNELELL MEKSFWEEAE LPAELFQKKV VASFPRTVLS TGMDNRYLVL 
        60         70         80         90        100
AVNTVQNKEG NCEKRLVITA SQSLENKELC ILRNDWCSVP VEPGDIIHLE 
       110        120        130        140        150
GDCTSDTWII DKDFGYLILY PDMLISGTSI ASSIRCMRRA VLSETFRSSD 
       160        170        180        190        200
PATRQMLIGT VLHEVFQKAI NNSFAPEKLQ ELAFQTIQEI RHLKEMYRLN 
       210        220        230        240        250
LSQDEIKQEV EDYLPSFCKW AGDFMHKNTS TDFPQMQLSL PSDNSKDNST 
       260        270        280        290        300
CNIEVVKPMD IEESIWSPRF GLKGKIDVTV GVKIHRGYKT KYKIMPLELK 
       310        320        330        340        350
TGKESNSIEH RSQVVLYTLL SQERRADPEA GLLLYLKTGQ MYPVPANHLD 
       360        370        380        390        400
KRELLKLRNQ MAFSLFHRIS KSATRQKTQL ASLPQIIEEE KTCKYCSQIG 
       410        420        430        440        450
NCALYSRAVE QQMDCSSVPI VMLPKIEEET QHLKQTHLEY FSLWCLMLTL 
       460        470        480        490        500
ESQSKDNKKN HQNIWLMPAS EMEKSGSCIG NLIRMEHVKI VCDGQYLHNF 
       510        520        530        540        550
QCKHGAIPVT NLMAGDRVIV SGEERSLFAL SRGYVKEINM TTVTCLLDRN 
       560        570        580        590        600
LSVLPESTLF RLDQEEKNCD IDTPLGNLSK LMENTFVSKK LRDLIIDFRE 
       610        620        630        640        650
PQFISYLSSV LPHDAKDTVA CILKGLNKPQ RQAMKKVLLS KDYTLIVGMP 
       660        670        680        690        700
GTGKTTTICT LVRILYACGF SVLLTSYTHS AVDNILLKLA KFKIGFLRLG 
       710        720        730        740        750
QIQKVHPAIQ QFTEQEICRS KSIKSLALLE ELYNSQLIVA TTCMGINHPI 
       760        770        780        790        800
FSRKIFDFCI VDEASQISQP ICLGPLFFSR RFVLVGDHQQ LPPLVLNREA 
       810        820        830        840        850
RALGMSESLF KRLEQNKSAV VQLTVQYRMN SKIMSLSNKL TYEGKLECGS 
       860        870        880        890        900
DKVANAVINL RHFKDVKLEL EFYADYSDNP WLMGVFEPNN PVCFLNTDKV 
       910        920        930        940        950
PAPEQVEKGG VSNVTEAKLI VFLTSIFVKA GCSPSDIGII APYRQQLKII 
       960        970        980        990       1000
NDLLARSIGM VEVNTVDKYQ GRDKSIVLVS FVRSNKDGTV GELLKDWRRL 
      1010       1020       1030       1040       1050
NVAITRAKHK LILLGCVPSL NCYPPLEKLL NHLNSEKLII DLPSREHESL 
      1060
CHILGDFQRE
Length:1,060
Mass (Da):120,415
Last modified:December 12, 2006 - v3
<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:i727D4B268FD75C5A
GO
Isoform 2 (identifier: P51530-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     664-687: ILYACGFSVLLTSYTHSAVDNILL → FRRFIQLSSNLQSKKFADQSPLNP
     688-1060: Missing.

Show »
Length:687
Mass (Da):78,498
Checksum:i8B6E028A05B190FE
GO
Isoform 3 (identifier: P51530-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     663-900: Missing.

Show »
Length:822
Mass (Da):93,347
Checksum:iBFFA20A722F4430B
GO
Isoform 4 (identifier: P51530-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1040-1060: IDLPSREHESLCHILGDFQRE → SFFFCIWSHLIAL

Show »
Length:1,052
Mass (Da):119,504
Checksum:i76545663BC48445D
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VR31F8VR31_HUMAN
DNA replication ATP-dependent helic...
DNA2
867Annotation score:

Annotation score:3 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>
H0Y455H0Y455_HUMAN
DNA replication ATP-dependent helic...
DNA2
375Annotation score:

Annotation score:3 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>
F8VPM6F8VPM6_HUMAN
DNA replication ATP-dependent helic...
DNA2
39Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH28188 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH63664 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA07647 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

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 conflicti986K → N in AAH28188 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069905198R → H in PEOA6; the mutant protein has a complete loss of nuclease activity and severely impaired helicase activity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs1272393477Ensembl.1
Natural variantiVAR_069906227K → E in PEOA6; the mutant protein has significantly reduced nuclease and helicase activity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs760412883Ensembl.1
Natural variantiVAR_069907637V → I in PEOA6; the mutant protein has decreased nuclease activity (30% of wild-type) and enhanced helicase activity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs746522359EnsemblClinVar.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_021869663 – 900Missing in isoform 3. 1 PublicationAdd BLAST238
Alternative sequenceiVSP_021870664 – 687ILYAC…DNILL → FRRFIQLSSNLQSKKFADQS PLNP in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_021871688 – 1060Missing in isoform 2. 1 PublicationAdd BLAST373
Alternative sequenceiVSP_0441851040 – 1060IDLPS…DFQRE → SFFFCIWSHLIAL in isoform 4. 1 PublicationAdd BLAST21

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
D42046 mRNA Translation: BAA07647.1 Different initiation.
AL136233 Genomic DNA No translation available.
BC041115 mRNA Translation: AAH41115.1
BC053574 mRNA Translation: AAH53574.1
BC063664 mRNA Translation: AAH63664.1 Different initiation.
BC111740 mRNA Translation: AAI11741.1
BC028188 mRNA Translation: AAH28188.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44415.2 [P51530-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T50697

NCBI Reference Sequences

More...RefSeqi		NP_001073918.2, NM_001080449.2 [P51530-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000358410; ENSP00000351185; ENSG00000138346 [P51530-1]
ENST00000399179; ENSP00000382132; ENSG00000138346 [P51530-2]
ENST00000399180; ENSP00000382133; ENSG00000138346 [P51530-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1763

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1763

UCSC genome browser

More...UCSCi		uc057tqx.1, human [P51530-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
D42046 mRNA Translation: BAA07647.1 Different initiation.
AL136233 Genomic DNA No translation available.
BC041115 mRNA Translation: AAH41115.1
BC053574 mRNA Translation: AAH53574.1
BC063664 mRNA Translation: AAH63664.1 Different initiation.
BC111740 mRNA Translation: AAI11741.1
BC028188 mRNA Translation: AAH28188.1 Different initiation.
CCDSiCCDS44415.2 [P51530-1]
PIRiT50697
RefSeqiNP_001073918.2, NM_001080449.2 [P51530-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EAYX-ray1.55E/F/G/H5-17[»]
SMRiP51530
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108103, 56 interactors
IntActiP51530, 22 interactors
STRINGi9606.ENSP00000351185

PTM databases

iPTMnetiP51530
PhosphoSitePlusiP51530

Genetic variation databases

BioMutaiDNA2

Proteomic databases

EPDiP51530
jPOSTiP51530
MassIVEiP51530
MaxQBiP51530
PaxDbiP51530
PeptideAtlasiP51530
PRIDEiP51530
ProteomicsDBi56322 [P51530-1]
56323 [P51530-2]
56324 [P51530-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28503, 141 antibodies

Genome annotation databases

EnsembliENST00000358410; ENSP00000351185; ENSG00000138346 [P51530-1]
ENST00000399179; ENSP00000382132; ENSG00000138346 [P51530-2]
ENST00000399180; ENSP00000382133; ENSG00000138346 [P51530-2]
GeneIDi1763
KEGGihsa:1763
UCSCiuc057tqx.1, human [P51530-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1763
DisGeNETi1763

GeneCards: human genes, protein and diseases

More...GeneCardsi		DNA2
HGNCiHGNC:2939, DNA2
HPAiENSG00000138346, Tissue enriched (lymphoid)
MalaCardsiDNA2
MIMi601810, gene
615156, phenotype
615807, phenotype
neXtProtiNX_P51530
OpenTargetsiENSG00000138346
Orphaneti352470, DNA2-related mitochondrial DNA deletion syndrome
VEuPathDBiHostDB:ENSG00000138346.14

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1805, Eukaryota
GeneTreeiENSGT00780000122010
HOGENOMiCLU_001666_2_0_1
InParanoidiP51530
OMAiIEEDIWS
OrthoDBi633768at2759
PhylomeDBiP51530

Enzyme and pathway databases

PathwayCommonsiP51530
ReactomeiR-HSA-174437, Removal of the Flap Intermediate from the C-strand
R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69166, Removal of the Flap Intermediate
R-HSA-69473, G2/M DNA damage checkpoint

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1763, 35 hits in 172 CRISPR screens

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

More...ChiTaRSi		DNA2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DNA2L

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

More...GenomeRNAii		1763
PharosiP51530, Tbio

Protein Ontology

More...PROi		PR:P51530
RNActiP51530, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138346, Expressed in kidney and 161 other tissues
ExpressionAtlasiP51530, baseline and differential
GenevisibleiP51530, HS

Family and domain databases

CDDicd18808, SF1_C_Upf1, 1 hit
InterProiView protein in InterPro
IPR026851, Dna2
IPR041679, DNA2/NAM7-like_C
IPR041677, DNA2/NAM7_AAA_11
IPR014808, DNA_replication_fac_Dna2_N
IPR027417, P-loop_NTPase
PANTHERiPTHR10887:SF433, PTHR10887:SF433, 1 hit
PfamiView protein in Pfam
PF13086, AAA_11, 2 hits
PF13087, AAA_12, 1 hit
PF08696, Dna2, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiDNA2_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: P51530
Secondary accession number(s): Q2NKM1
, Q5TC49, Q5TC50, Q6P455, Q6PI80, Q7Z6H9, Q8N346
<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: October 1, 1996
Last sequence update: December 12, 2006
Last modified: April 7, 2021
This is version 168 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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