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Protein

Crossover junction endonuclease EME1

Gene

EME1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA recombination, DNA repair
LigandMagnesium, 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

EuPathDBiHostDB:ENSG00000154920.14
HGNCiHGNC:24965 EME1
MIMi610885 gene
neXtProtiNX_Q96AY2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
Cross-linki103Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei111PhosphoserineCombined sources1
Modified residuei117PhosphoserineCombined sources1
Cross-linki136Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki141Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei150PhosphothreonineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96AY2
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

Show more details

Protein-protein interaction databases

BioGridi127026, 40 interactors
DIPiDIP-48629N
IntActiQ96AY2, 29 interactors
MINTiQ96AY2
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
OMAiEAQAVPC
OrthoDBiEOG091G0CET
PhylomeDBiQ96AY2
TreeFamiTF325310

Family and domain databases

InterProiView protein in InterPro
IPR006166 ERCC4_domain
IPR033310 Mms4/EME1/EME2
PANTHERiPTHR21077 PTHR21077, 1 hit
PfamiView protein in Pfam
PF02732 ERCC4, 1 hit
SMARTiView protein in SMART
SM00891 ERCC4, 1 hit

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 dbSNP:rs35248609Ensembl.1
Natural variantiVAR_02533749I → V. Corresponds to variant dbSNP:rs9896405Ensembl.1
Natural variantiVAR_05570963F → L. Corresponds to variant dbSNP:rs17714854Ensembl.1
Natural variantiVAR_02533869E → D2 PublicationsCorresponds to variant dbSNP:rs3760413Ensembl.1
Natural variantiVAR_055710347V → I. Corresponds to variant dbSNP:rs7222520Ensembl.1
Natural variantiVAR_025339350I → T. Corresponds to variant dbSNP:rs12450550Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiEME1_HUMAN
AccessioniPrimary (citable) accession number: Q96AY2
Secondary accession number(s): Q96N62
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: February 21, 2006
Last modified: May 23, 2018
This is version 141 of the entry and version 2 of the sequence. See 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

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