EME1 (essential meiotic structure-specific endonuclease 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 146956
• Gene name: Essential meiotic structure-specific endonuclease 1
• Gene symbol: EME1
• Synonyms (NCBI Gene): MMS4L, SLX2A
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3`-flap structures an

miRNA Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024520	hsa-miR-215-5p	Microarray	19074876
MIRT026676	hsa-miR-192-5p	Microarray	19074876
MIRT961892	hsa-miR-1202	CLIP-seq
MIRT961893	hsa-miR-1231	CLIP-seq
MIRT961894	hsa-miR-1269	CLIP-seq
MIRT961895	hsa-miR-1269b	CLIP-seq
MIRT961896	hsa-miR-1288	CLIP-seq
MIRT961897	hsa-miR-1293	CLIP-seq
MIRT961898	hsa-miR-129-5p	CLIP-seq
MIRT961899	hsa-miR-1304	CLIP-seq
MIRT961900	hsa-miR-2052	CLIP-seq
MIRT961901	hsa-miR-3064-5p	CLIP-seq
MIRT961902	hsa-miR-3121-5p	CLIP-seq
MIRT961903	hsa-miR-3132	CLIP-seq
MIRT961904	hsa-miR-34a	CLIP-seq
MIRT961905	hsa-miR-34c-5p	CLIP-seq
MIRT961906	hsa-miR-3616-3p	CLIP-seq
MIRT961907	hsa-miR-3652	CLIP-seq
MIRT961908	hsa-miR-3688-5p	CLIP-seq
MIRT961909	hsa-miR-375	CLIP-seq
MIRT961910	hsa-miR-3972	CLIP-seq
MIRT961911	hsa-miR-4288	CLIP-seq
MIRT961912	hsa-miR-4326	CLIP-seq
MIRT961913	hsa-miR-4430	CLIP-seq
MIRT961914	hsa-miR-4446-3p	CLIP-seq
MIRT961915	hsa-miR-4447	CLIP-seq
MIRT961916	hsa-miR-4472	CLIP-seq
MIRT961917	hsa-miR-4481	CLIP-seq
MIRT961918	hsa-miR-4483	CLIP-seq
MIRT961919	hsa-miR-4492	CLIP-seq
MIRT961920	hsa-miR-4498	CLIP-seq
MIRT961921	hsa-miR-449a	CLIP-seq
MIRT961922	hsa-miR-449b	CLIP-seq
MIRT961923	hsa-miR-4505	CLIP-seq
MIRT961924	hsa-miR-4515	CLIP-seq
MIRT961925	hsa-miR-4651	CLIP-seq
MIRT961926	hsa-miR-4721	CLIP-seq
MIRT961927	hsa-miR-4740-5p	CLIP-seq
MIRT961928	hsa-miR-4745-5p	CLIP-seq
MIRT961929	hsa-miR-4755-3p	CLIP-seq
MIRT961930	hsa-miR-4758-5p	CLIP-seq
MIRT961931	hsa-miR-4768-3p	CLIP-seq
MIRT961932	hsa-miR-4776-3p	CLIP-seq
MIRT961933	hsa-miR-511	CLIP-seq
MIRT961934	hsa-miR-599	CLIP-seq
MIRT961935	hsa-miR-608	CLIP-seq
MIRT961936	hsa-miR-632	CLIP-seq
MIRT961937	hsa-miR-665	CLIP-seq
MIRT961938	hsa-miR-762	CLIP-seq
MIRT961939	hsa-miR-876-3p	CLIP-seq
MIRT2219853	hsa-miR-1225-3p	CLIP-seq
MIRT2219854	hsa-miR-1233	CLIP-seq
MIRT961894	hsa-miR-1269	CLIP-seq
MIRT961895	hsa-miR-1269b	CLIP-seq
MIRT961896	hsa-miR-1288	CLIP-seq
MIRT961899	hsa-miR-1304	CLIP-seq
MIRT2219855	hsa-miR-1827	CLIP-seq
MIRT2219856	hsa-miR-3189-3p	CLIP-seq
MIRT961924	hsa-miR-4515	CLIP-seq
MIRT2219857	hsa-miR-4660	CLIP-seq
MIRT2219858	hsa-miR-4663	CLIP-seq
MIRT961927	hsa-miR-4740-5p	CLIP-seq
MIRT2219859	hsa-miR-4743	CLIP-seq
MIRT2219860	hsa-miR-4798-3p	CLIP-seq
MIRT2219861	hsa-miR-502-5p	CLIP-seq
MIRT2219853	hsa-miR-1225-3p	CLIP-seq
MIRT2219854	hsa-miR-1233	CLIP-seq
MIRT2219860	hsa-miR-4798-3p	CLIP-seq
MIRT2219853	hsa-miR-1225-3p	CLIP-seq
MIRT2219854	hsa-miR-1233	CLIP-seq
MIRT2219860	hsa-miR-4798-3p	CLIP-seq
MIRT2219853	hsa-miR-1225-3p	CLIP-seq
MIRT2219854	hsa-miR-1233	CLIP-seq
MIRT2523498	hsa-miR-1290	CLIP-seq
MIRT2523499	hsa-miR-139-5p	CLIP-seq
MIRT2523500	hsa-miR-3167	CLIP-seq
MIRT2523501	hsa-miR-4477a	CLIP-seq
MIRT2219860	hsa-miR-4798-3p	CLIP-seq
MIRT2523502	hsa-miR-582-5p	CLIP-seq
MIRT2523503	hsa-miR-876-5p	CLIP-seq
MIRT2219853	hsa-miR-1225-3p	CLIP-seq
MIRT2219854	hsa-miR-1233	CLIP-seq
MIRT2523498	hsa-miR-1290	CLIP-seq
MIRT2523499	hsa-miR-139-5p	CLIP-seq
MIRT2523500	hsa-miR-3167	CLIP-seq
MIRT2219860	hsa-miR-4798-3p	CLIP-seq
MIRT2523502	hsa-miR-582-5p	CLIP-seq
MIRT2523503	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IDA	24813886
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA
GO:0000723	Process	Telomere maintenance	IMP	24813886
GO:0000785	Component	Chromatin	IEA
GO:0000792	Component	Heterochromatin	IEA
GO:0003677	Function	DNA binding	EXP	18413719
GO:0003677	Function	DNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	12686547, 17289582, 19017809, 19596235, 19596236, 24733841, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IDA	18413719
GO:0006302	Process	Double-strand break repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IBA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IDA	35290797
GO:0008821	Function	Crossover junction DNA endonuclease activity	IMP	24813886
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IDA	18413719
GO:0031297	Process	Replication fork processing	IMP	24813886
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IBA
GO:0043596	Component	Nuclear replication fork	NAS	18413719
GO:0046872	Function	Metal ion binding	IEA
GO:0048476	Component	Holliday junction resolvase complex	IBA
GO:0048476	Component	Holliday junction resolvase complex	IDA	24813886, 35290797
GO:0048476	Component	Holliday junction resolvase complex	IEA
GO:0071140	Process	Resolution of mitotic recombination intermediates	IMP	24813886
GO:0072429	Process	Response to intra-S DNA damage checkpoint signaling	IMP	23361013
GO:1905347	Component	Endodeoxyribonuclease complex	IEA
GO:1905347	Component	Endodeoxyribonuclease complex	IPI	24733841

Other IDs

• MIM: 610885
• HGNC: 24965
• e!Ensembl: ENSG00000154920

Protein

• UniProt ID: Q96AY2
• Protein name: Structure-specific endonuclease subunit EME1 (Crossover junction endonuclease EME1) (Essential meiotic structure-specific endonuclease 1) (MMS4 homolog) (hMMS4)
• Protein function: Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME1 which is involved in the maintenance of genome stability. In the complex, EME1 is required for DNA cleavage, participating in DNA recognition and bending
• PDB: 2ZIU , 2ZIV , 2ZIW , 2ZIX , 4P0P , 4P0Q , 4P0R , 4P0S , 9F98 , 9F99 , 9F9A , 9F9K , 9F9L , 9F9M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02732	ERCC4	256 → 439	ERCC4 domain	Domain

• Sequence:

  MALKKSSPSLDSGDSDSEELPTFAFLKKEPSSTKRRQPEREEKIVVVDISDCEASCPPAP
  ELFSPPVPEIAETVTQTQPVRLLSSESEDEEEFIPLAQRLTCKFLTHKQLSPEDSSSPVK
  SVLDHQNNEGASCDWKKPFPKIPEVPLHDTPERSAADNKDLILDPCCQLPAYLSTCPGQS
  SSLAVTKTNSDILPPQKKTKPSQKVQGRGSHGCRQQRQARQKESTLRRQERKNAALVTRM
  KAQRPEECLKHIIVVLDPVLLQMEGGGQLLGALQTMECRCVIEAQAVPCSVTWRRRAGPS
  EDREDWVEEPTVLVLLRAEAFVSMIDNGKQGSLDSTMKGKETLQGFVTDITAKTAGKALS
  LVIVDQEKCFSAQNPPRRGKQGANKQTKKQQQRQPEASIGSMVSRVDAEEALVDLQLHTE
  AQAQIVQSWKELADFTCAFTKAVAEAPFKKLRDETTFSFCLESDWAGGVKVDLAGRGLAL
  VWRRQIQQLNRVSLEMASAVVNAYPSPQLLVQAYQQCFSDKERQNLLADIQVRRGEGVTS
  TSRRIGPELSRRIYLQMTTLQPHLSLDSAD

• Sequence length: 570

Pathways

KEGG Pathway	Reactome Pathway
Homologous recombination	Resolution of D-loop Structures through Holliday Junction Intermediates
Fanconi anemia pathway	Fanconi Anemia Pathway

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MUS81 3 shared pathwaysHomologous recombination, Fanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates Related via 3 shared pathways including Homologous recombination, Fanconi anemia pathway. TOP3B 2 shared pathwaysHomologous recombination, Fanconi anemia pathway Related via 2 shared pathways including Homologous recombination, Fanconi anemia pathway. EME2 2 shared pathwaysFanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates Related via 2 shared pathways including Fanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates. SLX1A 2 shared pathwaysFanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates Related via 2 shared pathways including Fanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates. SLX1B 2 shared pathwaysFanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates Related via 2 shared pathways including Fanconi anemia pathway, Resolution of D-loop Structures through Holliday Junction Intermediates.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MUS81	0	[]	3	["Homologous recombination","Fanconi anemia pathway","Resolution of D-loop Structures through Holliday Junction Intermediates"]	0	[]
TOP3B	0	[]	2	["Homologous recombination","Fanconi anemia pathway"]	0	[]
EME2	0	[]	2	["Fanconi anemia pathway","Resolution of D-loop Structures through Holliday Junction Intermediates"]	0	[]
SLX1A	0	[]	2	["Fanconi anemia pathway","Resolution of D-loop Structures through Holliday Junction Intermediates"]	0	[]
SLX1B	0	[]	2	["Fanconi anemia pathway","Resolution of D-loop Structures through Holliday Junction Intermediates"]	0	[]

Diseases Linked via Similar Genes

Cutis laxa Linked via 1 of 5 related genesMUS81 Schizophrenia Linked via 1 of 5 related genesTOP3B Combined oxidative phosphorylation deficiency Linked via 1 of 5 related genesEME2 Mitochondrial disease Linked via 1 of 5 related genesEME2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cutis laxa	1	["MUS81"]
Schizophrenia	1	["TOP3B"]
Combined oxidative phosphorylation deficiency	1	["EME2"]
Mitochondrial disease	1	["EME2"]