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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

  • DNA recombination Source: UniProtKB-KW
  • interstrand cross-link repair Source: Reactome
  • response to intra-S DNA damage checkpoint signaling Source: MGI
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

PharmGKBiPA134904115.

Polymorphism and mutation databases

BioMutaiEME1.
DMDMi88909612.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 570570Crossover junction endonuclease EME1PRO_0000223630Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei12 – 121PhosphoserineCombined sources
Modified residuei15 – 151PhosphoserineCombined sources
Modified residuei84 – 841PhosphoserineCombined sources
Modified residuei85 – 851PhosphoserineCombined sources
Modified residuei87 – 871PhosphoserineCombined sources
Modified residuei111 – 1111PhosphoserineCombined sources
Modified residuei117 – 1171PhosphoserineCombined sources
Modified residuei150 – 1501PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96AY2.
PaxDbiQ96AY2.
PeptideAtlasiQ96AY2.
PRIDEiQ96AY2.

PTM databases

iPTMnetiQ96AY2.
PhosphoSiteiQ96AY2.

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 interactions.
DIPiDIP-48629N.
IntActiQ96AY2. 25 interactions.
MINTiMINT-6780026.
STRINGi9606.ENSP00000376952.

Structurei

Secondary structure

1
570
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi242 – 2443Combined sources
Turni245 – 2473Combined sources
Helixi249 – 2513Combined sources
Beta strandi253 – 2564Combined sources
Helixi258 – 2614Combined sources
Helixi266 – 27510Combined sources
Beta strandi279 – 2824Combined sources
Beta strandi290 – 2945Combined sources
Beta strandi301 – 3033Combined sources
Beta strandi312 – 3176Combined sources
Helixi318 – 3269Combined sources
Helixi345 – 35410Combined sources
Beta strandi359 – 3646Combined sources
Beta strandi366 – 3683Combined sources
Helixi405 – 41814Combined sources
Beta strandi425 – 4284Combined sources
Helixi429 – 44416Combined sources
Helixi456 – 4605Combined sources
Beta strandi462 – 4643Combined sources
Beta strandi473 – 4753Combined sources
Helixi478 – 4869Combined sources
Beta strandi487 – 4915Combined sources
Helixi494 – 50310Combined sources
Beta strandi504 – 5063Combined sources
Helixi507 – 5159Combined sources
Beta strandi517 – 5193Combined sources
Helixi520 – 5234Combined sources
Turni524 – 5296Combined sources
Turni532 – 5354Combined sources
Helixi547 – 55812Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 239-566.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti214 – 2141R → Q in BAB71047 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51K → N.
Corresponds to variant rs35248609 [ dbSNP | Ensembl ].
VAR_055708
Natural varianti49 – 491I → V.
Corresponds to variant rs9896405 [ dbSNP | Ensembl ].
VAR_025337
Natural varianti63 – 631F → L.
Corresponds to variant rs17714854 [ dbSNP | Ensembl ].
VAR_055709
Natural varianti69 – 691E → D.2 Publications
Corresponds to variant rs3760413 [ dbSNP | Ensembl ].
VAR_025338
Natural varianti347 – 3471V → I.
Corresponds to variant rs7222520 [ dbSNP | Ensembl ].
VAR_055710
Natural varianti350 – 3501I → T.
Corresponds to variant rs12450550 [ dbSNP | Ensembl ].
VAR_025339

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei370 – 3701F → FSLELLFFDFLPCT in isoform 2. 1 PublicationVSP_017284

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
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. Positions 239-566.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ96AY2.
PhosphoSiteiQ96AY2.

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.
GeneCardsiEME1.
HGNCiHGNC:24965. EME1.
HPAiCAB016127.
HPA052188.
MIMi610885. gene.
neXtProtiNX_Q96AY2.
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: September 7, 2016
This is version 130 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.