UniProt:P51530 DNA2

chain
  • chain:1-1060
checksum 727D4B268FD75C5A
comment
  • FUNCTION 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.CATALYTIC ACTIVITY ATP + H2O = ADP + phosphate + H(+)COFACTOR Binds 1 [4Fe-4S] cluster.SUBUNIT Interacts with BLM and WDHD1.SUBCELLULAR LOCATION Was initially reported to be exclusively mitochondrial (PubMed:18995831). However, it was later shown to localize both in mitochondrion and nucleus (PubMed:19487465).ALTERNATIVE PRODUCTS 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the DNA2/NAM7 helicase family.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus.
crossReference
databaseName UniProt
dbId 89214
description
  • recommendedName: DNA replication ATP-dependent helicase/nuclease DNA2 shortName: hDNA2 alternativeName: DNA replication ATP-dependent helicase-like homolog domain recommendedName: DNA replication nuclease DNA2 ecNumber: 3.1.-.- /domain domain recommendedName: DNA replication ATP-dependent helicase DNA2 ecNumber: 3.6.4.12 /domain
displayName UniProt:P51530 DNA2
geneName
  • DNA2
  • DNA2L
  • KIAA0083
identifier P51530
isSequenceChanged false
keyword
  • 3D-structure
  • 4Fe-4S
  • Acetylation
  • Alternative splicing
  • ATP-binding
  • Disease variant
  • DNA damage
  • DNA repair
  • DNA replication
  • DNA-binding
  • Dwarfism
  • Ectodermal dysplasia
  • Endonuclease
  • Helicase
  • Hydrolase
  • Hypotrichosis
  • Intellectual disability
  • Iron
  • Iron-sulfur
  • Metal-binding
  • Mitochondrion
  • Multifunctional enzyme
  • Nuclease
  • Nucleotide-binding
  • Nucleus
  • Primary mitochondrial disease
  • Progressive external ophthalmoplegia
  • Proteomics identification
  • Reference proteome
modified [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType Protein
name
  • DNA2
otherIdentifier
  • 11752058_a_at
  • 11755807_a_at
  • 16714998
  • 1763
  • 213647_PM_at
  • 213647_at
  • 3292693
  • 3292695
  • 3292696
  • 3292697
  • 3292698
  • 3292699
  • 3292700
  • 3292701
  • 3292702
  • 3292704
  • 3292706
  • 3292707
  • 3292708
  • 3292709
  • 3292710
  • 3292713
  • 3292714
  • 3292715
  • 3292716
  • 3292717
  • 3292718
  • 3292719
  • 3292721
  • 3292722
  • 3292725
  • 3292726
  • 3292727
  • 3292729
  • 3292730
  • 3292731
  • 3292732
  • 3461806
  • 38885_at
  • 7934026
  • A_24_P366107
  • A_33_P3833211
  • D42046_at
  • GE63205
  • GO:0000076
  • GO:0000166
  • GO:0000723
  • GO:0000729
  • GO:0000781
  • GO:0003677
  • GO:0003678
  • GO:0003723
  • GO:0003824
  • GO:0004386
  • GO:0004518
  • GO:0004519
  • GO:0005515
  • GO:0005524
  • GO:0005634
  • GO:0005654
  • GO:0005737
  • GO:0005739
  • GO:0005760
  • GO:0006259
  • GO:0006260
  • GO:0006264
  • GO:0006281
  • GO:0006284
  • GO:0006974
  • GO:0016787
  • GO:0016887
  • GO:0017108
  • GO:0017116
  • GO:0032200
  • GO:0032201
  • GO:0032392
  • GO:0033567
  • GO:0033892
  • GO:0042645
  • GO:0043137
  • GO:0043139
  • GO:0043504
  • GO:0045740
  • GO:0046872
  • GO:0051536
  • GO:0051539
  • GO:0071932
  • GO:0090656
  • GO:0140097
  • GO:0140657
  • GO:1902990
  • HMNXSV003015016
  • Hs.194665.0.A1_3p_at
  • ILMN_1664682
  • ILMN_2282959
  • PH_hs_0011494
  • TC10001347.hg
  • TC10002686.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • DNA2_HUMAN
  • Q2NKM1
  • Q5TC49
  • Q5TC50
  • Q6P455
  • Q6PI80
  • Q7Z6H9
  • Q8N346
sequenceLength 1060
species [Species:48887] Homo sapiens
stId uniprot:P51530
url http://purl.uniprot.org/uniprot/P51530
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