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Protein

Crossover junction endonuclease EME1

Gene

EME1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publications

Cofactori

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

DNA damage, DNA recombination, DNA repair

Keywords - Ligandi

Magnesium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-6783310. Fanconi Anemia Pathway.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:24965. EME1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi146956.
OpenTargetsiENSG00000154920.
PharmGKBiPA134904115.

Polymorphism and mutation databases

BioMutaiEME1.
DMDMi88909612.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002236301 – 570Crossover junction endonuclease EME1Add BLAST570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei84PhosphoserineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
Modified residuei111PhosphoserineCombined sources1
Modified residuei117PhosphoserineCombined sources1
Modified residuei150PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96AY2.
PaxDbiQ96AY2.
PeptideAtlasiQ96AY2.
PRIDEiQ96AY2.

PTM databases

iPTMnetiQ96AY2.
PhosphoSitePlusiQ96AY2.

Expressioni

Gene expression databases

BgeeiENSG00000154920.
CleanExiHS_EME1.
ExpressionAtlasiQ96AY2. baseline and differential.
GenevisibleiQ96AY2. HS.

Organism-specific databases

HPAiCAB016127.
HPA052188.

Interactioni

Subunit structurei

May self-associate. Interacts with MUS81.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MUS81Q96NY95EBI-2370825,EBI-2370806
SLX4Q8IY924EBI-2370825,EBI-2370740

Protein-protein interaction databases

BioGridi127026. 37 interactors.
DIPiDIP-48629N.
IntActiQ96AY2. 25 interactors.
MINTiMINT-6780026.
STRINGi9606.ENSP00000376952.

Structurei

Secondary structure

1570
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi242 – 244Combined sources3
Turni245 – 247Combined sources3
Helixi249 – 251Combined sources3
Beta strandi253 – 256Combined sources4
Helixi258 – 261Combined sources4
Helixi266 – 275Combined sources10
Beta strandi279 – 282Combined sources4
Beta strandi290 – 294Combined sources5
Beta strandi301 – 303Combined sources3
Beta strandi312 – 317Combined sources6
Helixi318 – 326Combined sources9
Helixi345 – 354Combined sources10
Beta strandi359 – 364Combined sources6
Beta strandi366 – 368Combined sources3
Helixi405 – 418Combined sources14
Beta strandi425 – 428Combined sources4
Helixi429 – 444Combined sources16
Helixi456 – 460Combined sources5
Beta strandi462 – 464Combined sources3
Beta strandi473 – 475Combined sources3
Helixi478 – 486Combined sources9
Beta strandi487 – 491Combined sources5
Helixi494 – 503Combined sources10
Beta strandi504 – 506Combined sources3
Helixi507 – 515Combined sources9
Beta strandi517 – 519Combined sources3
Helixi520 – 523Combined sources4
Turni524 – 529Combined sources6
Turni532 – 535Combined sources4
Helixi547 – 558Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ZIUX-ray2.70B246-570[»]
2ZIVX-ray2.70B246-367[»]
B403-570[»]
2ZIWX-ray2.80B246-570[»]
2ZIXX-ray3.50B246-570[»]
4P0PX-ray2.80B178-570[»]
4P0QX-ray2.85B178-570[»]
4P0RX-ray6.50B/D178-570[»]
4P0SX-ray6.00B/D/F/H178-570[»]
ProteinModelPortaliQ96AY2.
SMRiQ96AY2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96AY2.

Family & Domainsi

Sequence similaritiesi

Belongs to the EME1/MMS4 family.Curated

Phylogenomic databases

eggNOGiENOG410IE76. Eukaryota.
ENOG41110FW. LUCA.
GeneTreeiENSGT00530000063937.
HOGENOMiHOG000112362.
HOVERGENiHBG081476.
InParanoidiQ96AY2.
KOiK10882.
OMAiSCDWKKQ.
OrthoDBiEOG091G0CET.
PhylomeDBiQ96AY2.
TreeFamiTF325310.

Family and domain databases

InterProiIPR006166. ERCC4_domain.
IPR033310. Mms4/EME1/EME2.
[Graphical view]
PANTHERiPTHR21077. PTHR21077. 1 hit.
PfamiPF02732. ERCC4. 1 hit.
[Graphical view]
SMARTiSM00891. ERCC4. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96AY2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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
Length:570
Mass (Da):63,252
Last modified:February 21, 2006 - v2
Checksum:iBA08F5655761AF85
GO
Isoform 2 (identifier: Q96AY2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     370-370: F → FSLELLFFDFLPCT

Note: No experimental confirmation available.
Show »
Length:583
Mass (Da):64,779
Checksum:iB3A20963049D2F42
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti214R → Q in BAB71047 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0557085K → N.Corresponds to variant rs35248609dbSNPEnsembl.1
Natural variantiVAR_02533749I → V.Corresponds to variant rs9896405dbSNPEnsembl.1
Natural variantiVAR_05570963F → L.Corresponds to variant rs17714854dbSNPEnsembl.1
Natural variantiVAR_02533869E → D.2 PublicationsCorresponds to variant rs3760413dbSNPEnsembl.1
Natural variantiVAR_055710347V → I.Corresponds to variant rs7222520dbSNPEnsembl.1
Natural variantiVAR_025339350I → T.Corresponds to variant rs12450550dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017284370F → FSLELLFFDFLPCT in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055926 mRNA. Translation: BAB71047.1.
BC016470 mRNA. Translation: AAH16470.1.
CCDSiCCDS11565.1. [Q96AY2-1]
CCDS54141.1. [Q96AY2-2]
RefSeqiNP_001159603.1. NM_001166131.1. [Q96AY2-2]
NP_689676.2. NM_152463.2. [Q96AY2-1]
UniGeneiHs.514330.

Genome annotation databases

EnsembliENST00000338165; ENSP00000339897; ENSG00000154920. [Q96AY2-1]
ENST00000393271; ENSP00000376952; ENSG00000154920. [Q96AY2-2]
ENST00000511648; ENSP00000421700; ENSG00000154920. [Q96AY2-2]
GeneIDi146956.
KEGGihsa:146956.
UCSCiuc002iqs.3. human. [Q96AY2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055926 mRNA. Translation: BAB71047.1.
BC016470 mRNA. Translation: AAH16470.1.
CCDSiCCDS11565.1. [Q96AY2-1]
CCDS54141.1. [Q96AY2-2]
RefSeqiNP_001159603.1. NM_001166131.1. [Q96AY2-2]
NP_689676.2. NM_152463.2. [Q96AY2-1]
UniGeneiHs.514330.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ZIUX-ray2.70B246-570[»]
2ZIVX-ray2.70B246-367[»]
B403-570[»]
2ZIWX-ray2.80B246-570[»]
2ZIXX-ray3.50B246-570[»]
4P0PX-ray2.80B178-570[»]
4P0QX-ray2.85B178-570[»]
4P0RX-ray6.50B/D178-570[»]
4P0SX-ray6.00B/D/F/H178-570[»]
ProteinModelPortaliQ96AY2.
SMRiQ96AY2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127026. 37 interactors.
DIPiDIP-48629N.
IntActiQ96AY2. 25 interactors.
MINTiMINT-6780026.
STRINGi9606.ENSP00000376952.

PTM databases

iPTMnetiQ96AY2.
PhosphoSitePlusiQ96AY2.

Polymorphism and mutation databases

BioMutaiEME1.
DMDMi88909612.

Proteomic databases

MaxQBiQ96AY2.
PaxDbiQ96AY2.
PeptideAtlasiQ96AY2.
PRIDEiQ96AY2.

Protocols and materials databases

DNASUi146956.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338165; ENSP00000339897; ENSG00000154920. [Q96AY2-1]
ENST00000393271; ENSP00000376952; ENSG00000154920. [Q96AY2-2]
ENST00000511648; ENSP00000421700; ENSG00000154920. [Q96AY2-2]
GeneIDi146956.
KEGGihsa:146956.
UCSCiuc002iqs.3. human. [Q96AY2-1]

Organism-specific databases

CTDi146956.
DisGeNETi146956.
GeneCardsiEME1.
HGNCiHGNC:24965. EME1.
HPAiCAB016127.
HPA052188.
MIMi610885. gene.
neXtProtiNX_Q96AY2.
OpenTargetsiENSG00000154920.
PharmGKBiPA134904115.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE76. Eukaryota.
ENOG41110FW. LUCA.
GeneTreeiENSGT00530000063937.
HOGENOMiHOG000112362.
HOVERGENiHBG081476.
InParanoidiQ96AY2.
KOiK10882.
OMAiSCDWKKQ.
OrthoDBiEOG091G0CET.
PhylomeDBiQ96AY2.
TreeFamiTF325310.

Enzyme and pathway databases

ReactomeiR-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-6783310. Fanconi Anemia Pathway.

Miscellaneous databases

EvolutionaryTraceiQ96AY2.
GeneWikiiEME1.
GenomeRNAii146956.
PROiQ96AY2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154920.
CleanExiHS_EME1.
ExpressionAtlasiQ96AY2. baseline and differential.
GenevisibleiQ96AY2. HS.

Family and domain databases

InterProiIPR006166. ERCC4_domain.
IPR033310. Mms4/EME1/EME2.
[Graphical view]
PANTHERiPTHR21077. PTHR21077. 1 hit.
PfamiPF02732. ERCC4. 1 hit.
[Graphical view]
SMARTiSM00891. ERCC4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEME1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 132 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.