UniProtKB - Q96AY2 (EME1_HUMAN)
Crossover junction endonuclease EME1
EME1
Functioni
Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.
4 PublicationsCofactori
GO - Molecular functioni
- DNA binding Source: InterPro
- endonuclease activity Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- double-strand break repair Source: ComplexPortal
- mitotic intra-S DNA damage checkpoint signaling Source: GO_Central
- replication fork processing Source: ComplexPortal
- resolution of meiotic recombination intermediates Source: GO_Central
- response to intra-S DNA damage checkpoint signaling Source: MGI
Keywordsi
Molecular function | Endonuclease, Hydrolase, Nuclease |
Biological process | DNA damage, DNA recombination, DNA repair |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96AY2 |
Reactomei | R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-6783310, Fanconi Anemia Pathway |
SignaLinki | Q96AY2 |
Names & Taxonomyi
Protein namesi | Recommended name: Crossover junction endonuclease EME1 (EC:3.1.22.-)Alternative name(s): MMS4 homolog Short name: hMMS4 |
Gene namesi | Name:EME1 Synonyms:MMS4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24965, EME1 |
MIMi | 610885, gene |
neXtProti | NX_Q96AY2 |
VEuPathDBi | HostDB:ENSG00000154920 |
Subcellular locationi
Nucleus
- nucleolus 1 Publication
Note: Recruited to regions of DNA damage in S-phase cells.
Nucleus
- nuclear replication fork Source: ComplexPortal
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: Reactome
Other locations
- endodeoxyribonuclease complex Source: ComplexPortal
- heterochromatin Source: Ensembl
- Holliday junction resolvase complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 146956 |
OpenTargetsi | ENSG00000154920 |
PharmGKBi | PA134904115 |
Miscellaneous databases
Pharosi | Q96AY2, Tbio |
Genetic variation databases
BioMutai | EME1 |
DMDMi | 88909612 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000223630 | 1 – 570 | Crossover junction endonuclease EME1Add BLAST | 570 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 12 | PhosphoserineCombined sources | 1 | |
Modified residuei | 15 | PhosphoserineCombined sources | 1 | |
Modified residuei | 84 | PhosphoserineCombined sources | 1 | |
Modified residuei | 85 | PhosphoserineCombined sources | 1 | |
Modified residuei | 87 | PhosphoserineCombined sources | 1 | |
Cross-linki | 103 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 111 | PhosphoserineCombined sources | 1 | |
Modified residuei | 117 | PhosphoserineCombined sources | 1 | |
Cross-linki | 136 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 141 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 150 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q96AY2 |
jPOSTi | Q96AY2 |
MassIVEi | Q96AY2 |
MaxQBi | Q96AY2 |
PaxDbi | Q96AY2 |
PeptideAtlasi | Q96AY2 |
PRIDEi | Q96AY2 |
ProteomicsDBi | 76018 [Q96AY2-1] 76019 [Q96AY2-2] |
PTM databases
iPTMneti | Q96AY2 |
PhosphoSitePlusi | Q96AY2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000154920, Expressed in amniotic fluid and 208 other tissues |
ExpressionAtlasi | Q96AY2, baseline and differential |
Genevisiblei | Q96AY2, HS |
Organism-specific databases
HPAi | ENSG00000154920, Tissue enhanced (bone marrow, epididymis, testis) |
Interactioni
Subunit structurei
May self-associate.
Interacts with MUS81.
4 PublicationsBinary interactionsi
Protein-protein interaction databases
BioGRIDi | 127026, 55 interactors |
ComplexPortali | CPX-511, Deoxyribonuclease complex MUS81-EME1 |
DIPi | DIP-48629N |
IntActi | Q96AY2, 42 interactors |
MINTi | Q96AY2 |
STRINGi | 9606.ENSP00000376952 |
Miscellaneous databases
RNActi | Q96AY2, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q96AY2 |
SMRi | Q96AY2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96AY2 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 42 | DisorderedSequence analysisAdd BLAST | 42 | |
Regioni | 187 – 233 | DisorderedSequence analysisAdd BLAST | 47 | |
Regioni | 372 – 400 | DisorderedSequence analysisAdd BLAST | 29 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 16 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 187 – 214 | Polar residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 216 – 233 | Basic and acidic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 377 – 399 | Polar residuesSequence analysisAdd BLAST | 23 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG502R8ER, Eukaryota |
GeneTreei | ENSGT00530000063937 |
HOGENOMi | CLU_034099_2_0_1 |
InParanoidi | Q96AY2 |
OMAi | FCVESDW |
OrthoDBi | 1595761at2759 |
PhylomeDBi | Q96AY2 |
TreeFami | TF325310 |
Family and domain databases
DisProti | DP01877 |
Gene3Di | 1.10.150.670, 1 hit 3.40.1620.30, 1 hit 4.10.800.30, 1 hit |
IDEALi | IID00096 |
InterProi | View protein in InterPro IPR042530, EME1/EME2_C IPR043086, EME1_nucdom_sub1 IPR043087, Eme1_nucdom_sub2 IPR006166, ERCC4_domain IPR033310, Mms4/EME1/EME2 |
PANTHERi | PTHR21077, PTHR21077, 1 hit |
Pfami | View protein in Pfam PF02732, ERCC4, 1 hit |
SMARTi | View protein in SMART SM00891, ERCC4, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALKKSSPSL DSGDSDSEEL PTFAFLKKEP SSTKRRQPER EEKIVVVDIS
60 70 80 90 100
DCEASCPPAP ELFSPPVPEI AETVTQTQPV RLLSSESEDE EEFIPLAQRL
110 120 130 140 150
TCKFLTHKQL SPEDSSSPVK SVLDHQNNEG ASCDWKKPFP KIPEVPLHDT
160 170 180 190 200
PERSAADNKD LILDPCCQLP AYLSTCPGQS SSLAVTKTNS DILPPQKKTK
210 220 230 240 250
PSQKVQGRGS HGCRQQRQAR QKESTLRRQE RKNAALVTRM KAQRPEECLK
260 270 280 290 300
HIIVVLDPVL LQMEGGGQLL GALQTMECRC VIEAQAVPCS VTWRRRAGPS
310 320 330 340 350
EDREDWVEEP TVLVLLRAEA FVSMIDNGKQ GSLDSTMKGK ETLQGFVTDI
360 370 380 390 400
TAKTAGKALS LVIVDQEKCF SAQNPPRRGK QGANKQTKKQ QQRQPEASIG
410 420 430 440 450
SMVSRVDAEE ALVDLQLHTE AQAQIVQSWK ELADFTCAFT KAVAEAPFKK
460 470 480 490 500
LRDETTFSFC LESDWAGGVK VDLAGRGLAL VWRRQIQQLN RVSLEMASAV
510 520 530 540 550
VNAYPSPQLL VQAYQQCFSD KERQNLLADI QVRRGEGVTS TSRRIGPELS
560 570
RRIYLQMTTL QPHLSLDSAD
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y9Z4 | H0Y9Z4_HUMAN | Crossover junction endonuclease EME... | EME1 | 337 | Annotation score: | ||
F8W714 | F8W714_HUMAN | Crossover junction endonuclease EME... | EME1 | 171 | Annotation score: | ||
D6RIT8 | D6RIT8_HUMAN | Crossover junction endonuclease EME... | EME1 | 101 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 214 | R → Q in BAB71047 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_055708 | 5 | K → N. Corresponds to variant dbSNP:rs35248609EnsemblClinVar. | 1 | |
Natural variantiVAR_025337 | 49 | I → V. Corresponds to variant dbSNP:rs9896405Ensembl. | 1 | |
Natural variantiVAR_055709 | 63 | F → L. Corresponds to variant dbSNP:rs17714854Ensembl. | 1 | |
Natural variantiVAR_025338 | 69 | E → D2 PublicationsCorresponds to variant dbSNP:rs3760413Ensembl. | 1 | |
Natural variantiVAR_055710 | 347 | V → I. Corresponds to variant dbSNP:rs7222520Ensembl. | 1 | |
Natural variantiVAR_025339 | 350 | I → T. Corresponds to variant dbSNP:rs12450550Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017284 | 370 | F → FSLELLFFDFLPCT in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055926 mRNA Translation: BAB71047.1 BC016470 mRNA Translation: AAH16470.1 |
CCDSi | CCDS11565.1 [Q96AY2-1] CCDS54141.1 [Q96AY2-2] |
RefSeqi | NP_001159603.1, NM_001166131.1 [Q96AY2-2] NP_689676.2, NM_152463.2 [Q96AY2-1] |
Genome annotation databases
Ensembli | ENST00000338165.9; ENSP00000339897.4; ENSG00000154920.15 ENST00000393271.6; ENSP00000376952.2; ENSG00000154920.15 [Q96AY2-2] ENST00000511648.6; ENSP00000421700.2; ENSG00000154920.15 [Q96AY2-2] |
GeneIDi | 146956 |
KEGGi | hsa:146956 |
MANE-Selecti | ENST00000338165.9; ENSP00000339897.4; NM_152463.4; NP_689676.2 |
UCSCi | uc002iqs.3, human [Q96AY2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055926 mRNA Translation: BAB71047.1 BC016470 mRNA Translation: AAH16470.1 |
CCDSi | CCDS11565.1 [Q96AY2-1] CCDS54141.1 [Q96AY2-2] |
RefSeqi | NP_001159603.1, NM_001166131.1 [Q96AY2-2] NP_689676.2, NM_152463.2 [Q96AY2-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2ZIU | X-ray | 2.70 | B | 246-570 | [»] | |
2ZIV | X-ray | 2.70 | B | 246-367 | [»] | |
B | 403-570 | [»] | ||||
2ZIW | X-ray | 2.80 | B | 246-570 | [»] | |
2ZIX | X-ray | 3.50 | B | 246-570 | [»] | |
4P0P | X-ray | 2.80 | B | 178-570 | [»] | |
4P0Q | X-ray | 2.85 | B | 178-570 | [»] | |
4P0R | X-ray | 6.50 | B/D | 178-570 | [»] | |
4P0S | X-ray | 6.00 | B/D/F/H | 178-570 | [»] | |
AlphaFoldDBi | Q96AY2 | |||||
SMRi | Q96AY2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 127026, 55 interactors |
ComplexPortali | CPX-511, Deoxyribonuclease complex MUS81-EME1 |
DIPi | DIP-48629N |
IntActi | Q96AY2, 42 interactors |
MINTi | Q96AY2 |
STRINGi | 9606.ENSP00000376952 |
PTM databases
iPTMneti | Q96AY2 |
PhosphoSitePlusi | Q96AY2 |
Genetic variation databases
BioMutai | EME1 |
DMDMi | 88909612 |
Proteomic databases
EPDi | Q96AY2 |
jPOSTi | Q96AY2 |
MassIVEi | Q96AY2 |
MaxQBi | Q96AY2 |
PaxDbi | Q96AY2 |
PeptideAtlasi | Q96AY2 |
PRIDEi | Q96AY2 |
ProteomicsDBi | 76018 [Q96AY2-1] 76019 [Q96AY2-2] |
Protocols and materials databases
Antibodypediai | 4245, 228 antibodies from 31 providers |
DNASUi | 146956 |
Genome annotation databases
Ensembli | ENST00000338165.9; ENSP00000339897.4; ENSG00000154920.15 ENST00000393271.6; ENSP00000376952.2; ENSG00000154920.15 [Q96AY2-2] ENST00000511648.6; ENSP00000421700.2; ENSG00000154920.15 [Q96AY2-2] |
GeneIDi | 146956 |
KEGGi | hsa:146956 |
MANE-Selecti | ENST00000338165.9; ENSP00000339897.4; NM_152463.4; NP_689676.2 |
UCSCi | uc002iqs.3, human [Q96AY2-1] |
Organism-specific databases
CTDi | 146956 |
DisGeNETi | 146956 |
GeneCardsi | EME1 |
HGNCi | HGNC:24965, EME1 |
HPAi | ENSG00000154920, Tissue enhanced (bone marrow, epididymis, testis) |
MIMi | 610885, gene |
neXtProti | NX_Q96AY2 |
OpenTargetsi | ENSG00000154920 |
PharmGKBi | PA134904115 |
VEuPathDBi | HostDB:ENSG00000154920 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R8ER, Eukaryota |
GeneTreei | ENSGT00530000063937 |
HOGENOMi | CLU_034099_2_0_1 |
InParanoidi | Q96AY2 |
OMAi | FCVESDW |
OrthoDBi | 1595761at2759 |
PhylomeDBi | Q96AY2 |
TreeFami | TF325310 |
Enzyme and pathway databases
PathwayCommonsi | Q96AY2 |
Reactomei | R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-6783310, Fanconi Anemia Pathway |
SignaLinki | Q96AY2 |
Miscellaneous databases
BioGRID-ORCSi | 146956, 28 hits in 1081 CRISPR screens |
EvolutionaryTracei | Q96AY2 |
GeneWikii | EME1 |
GenomeRNAii | 146956 |
Pharosi | Q96AY2, Tbio |
PROi | PR:Q96AY2 |
RNActi | Q96AY2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000154920, Expressed in amniotic fluid and 208 other tissues |
ExpressionAtlasi | Q96AY2, baseline and differential |
Genevisiblei | Q96AY2, HS |
Family and domain databases
DisProti | DP01877 |
Gene3Di | 1.10.150.670, 1 hit 3.40.1620.30, 1 hit 4.10.800.30, 1 hit |
IDEALi | IID00096 |
InterProi | View protein in InterPro IPR042530, EME1/EME2_C IPR043086, EME1_nucdom_sub1 IPR043087, Eme1_nucdom_sub2 IPR006166, ERCC4_domain IPR033310, Mms4/EME1/EME2 |
PANTHERi | PTHR21077, PTHR21077, 1 hit |
Pfami | View protein in Pfam PF02732, ERCC4, 1 hit |
SMARTi | View protein in SMART SM00891, ERCC4, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | EME1_HUMAN | |
Accessioni | Q96AY2Primary (citable) accession number: Q96AY2 Secondary accession number(s): Q96N62 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2006 |
Last sequence update: | February 21, 2006 | |
Last modified: | May 25, 2022 | |
This is version 162 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families