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UniProtKB - Q96AY2 (EME1_HUMAN)

Entry version 162 (25 May 2022)
Sequence version 2 (21 Feb 2006)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96AY2

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96AY2

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Crossover junction endonuclease EME1 (EC:3.1.22.-)
Alternative name(s):
MMS4 homolog
Short name:
hMMS4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EME1
Synonyms:MMS4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24965, EME1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610885, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96AY2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000154920

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		146956

Open Targets

More...OpenTargetsi		ENSG00000154920

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134904115

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96AY2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EME1

Domain mapping of disease mutations (DMDM)

More...DMDMi		88909612

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002236301 – 570Crossover junction endonuclease EME1Add BLAST570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei12PhosphoserineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei84PhosphoserineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q96AY2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96AY2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96AY2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96AY2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96AY2

PeptideAtlas

More...PeptideAtlasi		Q96AY2

PRoteomics IDEntifications database

More...PRIDEi		Q96AY2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76018 [Q96AY2-1]
76019 [Q96AY2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96AY2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96AY2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000154920, Expressed in amniotic fluid and 208 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96AY2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96AY2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000154920, Tissue enhanced (bone marrow, epididymis, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May self-associate.

Interacts with MUS81.

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		127026, 55 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-511, Deoxyribonuclease complex MUS81-EME1

Database of interacting proteins

More...DIPi		DIP-48629N

Protein interaction database and analysis system

More...IntActi		Q96AY2, 42 interactors

Molecular INTeraction database

More...MINTi		Q96AY2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376952

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96AY2, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1570
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96AY2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96AY2

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q96AY2

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 42DisorderedSequence analysisAdd BLAST42
Regioni187 – 233DisorderedSequence analysisAdd BLAST47
Regioni372 – 400DisorderedSequence analysisAdd BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 16Polar residuesSequence analysisAdd BLAST16
Compositional biasi187 – 214Polar residuesSequence analysisAdd BLAST28
Compositional biasi216 – 233Basic and acidic residuesSequence analysisAdd BLAST18
Compositional biasi377 – 399Polar residuesSequence analysisAdd BLAST23

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EME1/MMS4 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502R8ER, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063937

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_034099_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96AY2

Identification of Orthologs from Complete Genome Data

More...OMAi		FCVESDW

Database of Orthologous Groups

More...OrthoDBi		1595761at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96AY2

TreeFam database of animal gene trees

More...TreeFami		TF325310

Family and domain databases

Database of protein disorder

More...DisProti		DP01877

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.150.670, 1 hit
3.40.1620.30, 1 hit
4.10.800.30, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00096

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR042530, EME1/EME2_C
IPR043086, EME1_nucdom_sub1
IPR043087, Eme1_nucdom_sub2
IPR006166, ERCC4_domain
IPR033310, Mms4/EME1/EME2

The PANTHER Classification System

More...PANTHERi		PTHR21077, PTHR21077, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02732, ERCC4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00891, ERCC4, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:583
Mass (Da):64,779
Checksum:iB3A20963049D2F42
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9Z4H0Y9Z4_HUMAN
Crossover junction endonuclease EME...
EME1
337Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W714F8W714_HUMAN
Crossover junction endonuclease EME...
EME1
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RIT8D6RIT8_HUMAN
Crossover junction endonuclease EME...
EME1
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti214R → Q in BAB71047 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0557085K → N. Corresponds to variant dbSNP:rs35248609EnsemblClinVar.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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017284370F → FSLELLFFDFLPCT in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK055926 mRNA Translation: BAB71047.1
BC016470 mRNA Translation: AAH16470.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11565.1 [Q96AY2-1]
CCDS54141.1 [Q96AY2-2]

NCBI Reference Sequences

More...RefSeqi		NP_001159603.1, NM_001166131.1 [Q96AY2-2]
NP_689676.2, NM_152463.2 [Q96AY2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000338165.9; ENSP00000339897.4; ENSG00000154920.15
ENST00000393271.6; ENSP00000376952.2; ENSG00000154920.15 [Q96AY2-2]
ENST00000511648.6; ENSP00000421700.2; ENSG00000154920.15 [Q96AY2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		146956

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:146956

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000338165.9; ENSP00000339897.4; NM_152463.4; NP_689676.2

UCSC genome browser

More...UCSCi		uc002iqs.3, human [Q96AY2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
AlphaFoldDBiQ96AY2
SMRiQ96AY2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi127026, 55 interactors
ComplexPortaliCPX-511, Deoxyribonuclease complex MUS81-EME1
DIPiDIP-48629N
IntActiQ96AY2, 42 interactors
MINTiQ96AY2
STRINGi9606.ENSP00000376952

PTM databases

iPTMnetiQ96AY2
PhosphoSitePlusiQ96AY2

Genetic variation databases

BioMutaiEME1
DMDMi88909612

Proteomic databases

EPDiQ96AY2
jPOSTiQ96AY2
MassIVEiQ96AY2
MaxQBiQ96AY2
PaxDbiQ96AY2
PeptideAtlasiQ96AY2
PRIDEiQ96AY2
ProteomicsDBi76018 [Q96AY2-1]
76019 [Q96AY2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4245, 228 antibodies from 31 providers

The DNASU plasmid repository

More...DNASUi		146956

Genome annotation databases

EnsembliENST00000338165.9; ENSP00000339897.4; ENSG00000154920.15
ENST00000393271.6; ENSP00000376952.2; ENSG00000154920.15 [Q96AY2-2]
ENST00000511648.6; ENSP00000421700.2; ENSG00000154920.15 [Q96AY2-2]
GeneIDi146956
KEGGihsa:146956
MANE-SelectiENST00000338165.9; ENSP00000339897.4; NM_152463.4; NP_689676.2
UCSCiuc002iqs.3, human [Q96AY2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		146956
DisGeNETi146956

GeneCards: human genes, protein and diseases

More...GeneCardsi		EME1
HGNCiHGNC:24965, EME1
HPAiENSG00000154920, Tissue enhanced (bone marrow, epididymis, testis)
MIMi610885, gene
neXtProtiNX_Q96AY2
OpenTargetsiENSG00000154920
PharmGKBiPA134904115
VEuPathDBiHostDB:ENSG00000154920

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502R8ER, Eukaryota
GeneTreeiENSGT00530000063937
HOGENOMiCLU_034099_2_0_1
InParanoidiQ96AY2
OMAiFCVESDW
OrthoDBi1595761at2759
PhylomeDBiQ96AY2
TreeFamiTF325310

Enzyme and pathway databases

PathwayCommonsiQ96AY2
ReactomeiR-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-6783310, Fanconi Anemia Pathway
SignaLinkiQ96AY2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		146956, 28 hits in 1081 CRISPR screens
EvolutionaryTraceiQ96AY2

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		EME1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		146956
PharosiQ96AY2, Tbio

Protein Ontology

More...PROi		PR:Q96AY2
RNActiQ96AY2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000154920, Expressed in amniotic fluid and 208 other tissues
ExpressionAtlasiQ96AY2, baseline and differential
GenevisibleiQ96AY2, HS

Family and domain databases

DisProtiDP01877
Gene3Di1.10.150.670, 1 hit
3.40.1620.30, 1 hit
4.10.800.30, 1 hit
IDEALiIID00096
InterProiView protein in InterPro
IPR042530, EME1/EME2_C
IPR043086, EME1_nucdom_sub1
IPR043087, Eme1_nucdom_sub2
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEME1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96AY2
Secondary accession number(s): Q96N62
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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