Descriptions

Human exonuclease 1 (Exo1) plays important roles in DNA repair and recombination processes that maintain genomic integrity. It is a member of the 50 structure-specific nuclease family of exonucleases and endonucleases that includes FEN-1, XPG, and GEN1.<br>Upon mismatch recognition, first MutSα searches for Exo1 via bidirectional, one-dimensional diffusion along the DNA. Next, MutSα encounters Exo1 prebound at a nick and interacts with the C-terminal domain of Exo1, thereby alleviating the autoinhibition of the Exo1.

Autoinhibitory domains (AIDs)

Target domain

1-201 (Exonuclease 1-like domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9QZ11

Entry ID Method Resolution Chain Position Source
AF-Q9QZ11-F1 Predicted AlphaFoldDB

65 variants for Q9QZ11

Variant ID(s) Position Change Description Diseaes Association Provenance
rs211985209 18 N>T No EVA
rs3388521734 50 E>K No EVA
rs3388518850 146 V>M No EVA
rs3388517290 179 C>G No EVA
rs3388519541 208 D>N No EVA
rs3388521676 214 K>M No EVA
rs3388519715 215 F>I No EVA
rs3539968023 243 R>K No EVA
rs3388518768 263 M>I No EVA
rs3388519676 268 P>L No EVA
rs3388519225 276 I>N No EVA
rs3388520191 303 D>N No EVA
rs3388519980 308 E>G No EVA
rs229861950 317 V>I No EVA
rs250442440 318 G>D No EVA
rs3388518843 327 L>H No EVA
rs244233232 332 V>I No EVA
rs3388514921 343 P>L No EVA
rs3388519629 345 T>I No EVA
rs3143423 366 T>A No EVA
rs237356043 392 K>N No EVA
rs3539980047 433 Y>F No EVA
rs3388518838 467 H>Y No EVA
rs3388520541 480 K>I No EVA
rs32545751 483 T>S No EVA
rs3388520174 493 G>D No EVA
rs3388518844 501 R>G No EVA
rs3391036449 511 F>I No EVA
rs32546567 521 G>S No EVA
rs3388519599 522 Q>* No EVA
rs237027442 536 S>R No EVA
rs245333345 541 L>P No EVA
rs3388520586 547 E>K No EVA
rs234516104 549 H>Q No EVA
rs3143431 557 T>M No EVA
rs237481650 560 L>P No EVA
rs223610105 596 L>V No EVA
rs3388518849 598 S>R No EVA
rs3412902104 599 C>Y No EVA
rs3388519704 618 S>I No EVA
rs3388519624 636 E>V No EVA
rs3148638 648 K>Q No EVA
rs3143432 652 L>P No EVA
rs3143432 652 L>Q No EVA
rs227470538 655 T>K No EVA
rs254025801 665 S>P No EVA
rs3143433 666 S>L No EVA
rs226047492 667 R>G No EVA
rs3388517025 671 S>N No EVA
rs245274003 675 S>T No EVA
rs215978864 677 G>S No EVA
rs254834997 692 G>D No EVA
rs266247176 738 M>L No EVA
rs3391074998 748 P>T No EVA
rs226254284 759 K>M No EVA
rs226254284 759 K>R No EVA
rs32548607 764 M>L No EVA
rs3388520575 785 L>V No EVA
rs3388519562 796 E>K No EVA
rs3388514519 797 K>R No EVA
rs3388519206 799 P>L No EVA
rs225128234 801 C>W No EVA
rs3388519689 808 V>I No EVA
rs3388518188 809 K>* No EVA
rs3388521762 834 A>S No EVA

No associated diseases with Q9QZ11

7 regional properties for Q9QZ11

Type Name Position InterPro Accession
domain XPG, N-terminal 1 - 99 IPR006085
domain XPG-I domain 138 - 225 IPR006086
conserved_site Helix-hairpin-helix motif, class 2 212 - 245 IPR008918
conserved_site XPG conserved site 71 - 85 IPR019974-1
conserved_site XPG conserved site 141 - 155 IPR019974-2
domain Exonuclease-1, H3TH domain 213 - 289 IPR037315
domain Exonuclease 1-like, PIN-like domain 1 - 201 IPR044752

Functions

Description
EC Number 3.1.-.- Acting on ester bonds
Subcellular Localization
  • Nucleus
  • Colocalizes with PCNA to discrete nuclear foci in S-phase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

9 GO annotations of molecular function

Name Definition
5'-3' DNA exonuclease activity Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of a DNA molecule.
5'-3' exonuclease activity Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 5' end.
5'-flap endonuclease activity Catalysis of the cleavage of a 5' flap structure in DNA, but not other DNA structures; processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis.
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
double-stranded DNA 5'-3' DNA exonuclease activity Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of a double-stranded DNA molecule.
flap endonuclease activity Catalysis of the cleavage of a flap structure in DNA, but not other DNA structures; processes the ends of Okazaki fragments in lagging strand DNA synthesis.
metal ion binding Binding to a metal ion.
single-stranded DNA 5'-3' DNA exonuclease activity Catalysis of the sequential cleavage of nucleotides (such as mononucleotides or dinucleotides) from a free 5' terminus of a single-stranded DNA molecule.

8 GO annotations of biological process

Name Definition
DNA double-strand break processing The 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang.
DNA recombination Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.
humoral immune response mediated by circulating immunoglobulin An immune response dependent upon secreted immunoglobulin. An example of this process is found in Mus musculus.
isotype switching The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus.
meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
mismatch repair A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination.
nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.
somatic hypermutation of immunoglobulin genes Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q12086 DIN7 DNA damage-inducible protein DIN7 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9UQ84 EXO1 Exonuclease 1 Homo sapiens (Human) EV
Q803U7 exo1 Exonuclease 1 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MGIQGLLQFI QEASEPVNVK KYKGQAVAVD TYCWLHKGAI ACAEKLAKGE PTDRYVGFCM
70 80 90 100 110 120
KFVNMLLSYG VKPILIFDGC TLPSKKEVER SRRERRQSNL LKGKQLLREG KVSEARDCFA
130 140 150 160 170 180
RSINITHAMA HKVIKAARAL GVDCLVAPYE ADAQLAYLNK AGIVQAVITE DSDLLAFGCK
190 200 210 220 230 240
KVILKMDQFG NGLEVDQARL GMCKQLGDVF TEEKFRYMCI LSGCDYLASL RGIGLAKACK
250 260 270 280 290 300
VLRLANNPDI VKVIKKIGHY LRMNITVPED YITGFIRANN TFLYQLVFDP IQRKLVPLNA
310 320 330 340 350 360
YGDDVNPETL TYAGQYVGDS VALQIALGNR DVNTFEQIDD YSPDTMPAHS RSHSWNEKAG
370 380 390 400 410 420
QKPPGTNSIW HKNYCPRLEV NSVSHAPQLK EKPSTLGLKQ VISTKGLNLP RKSCVLKRPR
430 440 450 460 470 480
NEALAEDDLL SQYSSVSKKI KENGCGDGTS PNSSKMSKSC PDSGTAHKTD AHTPSKMRNK
490 500 510 520 530 540
FATFLQRRNE ESGAVVVPGT RSRFFCSSQD FDNFIPKKES GQPLNETVAT GKATTSLLGA
550 560 570 580 590 600
LDCPDTEGHK PVDANGTHNL SSQIPGNAAV SPEDEAQSSE TSKLLGAMSP PSLGTLRSCF
610 620 630 640 650 660
SWSGTLREFS RTPSPSASTT LQQFRRKSDP PACLPEASAV VTDRCDSKSE MLGETSQPLH
670 680 690 700 710 720
ELGCSSRSQE SMDSSCGLNT SSLSQPSSRD SGSEESDCNN KSLDNQGEQN SKQHLPHFSK
730 740 750 760 770 780
KDGLRRNKVP GLCRSSSMDS FSTTKIKPLV PARVSGLSKK SGSMQTRKHH DVENKPGLQT
790 800 810 820 830
KISELWKNFG FKKDSEKLPS CKKPLSPVKD NIQLTPETED EIFNKPECVR AQRAIFH