Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EME1 (essential meiotic structure-specific endonuclease 1)

Identity

Alias (NCBI)MMS4L
SLX2A
HGNC (Hugo) EME1
HGNC Alias symbFLJ31364
MMS4L
SLX2A
HGNC Alias nameSLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)
HGNC Previous nameessential meiotic endonuclease 1 homolog 1 (S. pombe)
LocusID (NCBI) 146956
Atlas_Id 43242
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50373229 and ends at 50381459 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DUSP14 (17q12) / EME1 (17q21.33)TMPRSS6 (22q12.3) / EME1 (17q21.33)DUSP14 17q12 / EME1 17q21.33
TMPRSS6 22q12.3 / EME1 17q21.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)EME1   24965
Cards
Entrez_Gene (NCBI)EME1    essential meiotic structure-specific endonuclease 1
AliasesMMS4L; SLX2A
GeneCards (Weizmann)EME1
Ensembl hg19 (Hinxton)ENSG00000154920 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154920 [Gene_View]  ENSG00000154920 [Sequence]  chr17:50373229-50381459 [Contig_View]  EME1 [Vega]
ICGC DataPortalENSG00000154920
TCGA cBioPortalEME1
AceView (NCBI)EME1
Genatlas (Paris)EME1
SOURCE (Princeton)EME1
Genetics Home Reference (NIH)EME1
Genomic and cartography
GoldenPath hg38 (UCSC)EME1  -     chr17:50373229-50381459 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EME1  -     17q21.33   [Description]    (hg19-Feb_2009)
GoldenPathEME1 - 17q21.33 [CytoView hg19]  EME1 - 17q21.33 [CytoView hg38]
ImmunoBaseENSG00000154920
Genome Data Viewer NCBIEME1 [Mapview hg19]  
OMIM610885   
Gene and transcription
Genbank (Entrez)AK021607 AK055926 AK308275 BC016470 DA006645
RefSeq transcript (Entrez)NM_001166131 NM_152463
Consensus coding sequences : CCDS (NCBI)EME1
Gene ExpressionEME1 [ NCBI-GEO ]   EME1 [ EBI - ARRAY_EXPRESS ]   EME1 [ SEEK ]   EME1 [ MEM ]
Gene Expression Viewer (FireBrowse)EME1 [ Firebrowse - Broad ]
GenevisibleExpression of EME1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146956
GTEX Portal (Tissue expression)EME1
Human Protein AtlasENSG00000154920-EME1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96AY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96AY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96AY2
Catalytic activity : Enzyme3.1.22.- [ Enzyme-Expasy ]   3.1.22.-3.1.22.- [ IntEnz-EBI ]   3.1.22.- [ BRENDA ]   3.1.22.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ96AY2
Domains : Interpro (EBI)EME1/EME2_C    ERCC4_domain    ERCC4_Mus81-Eme1_nucdom_sub1    ERCC4_Mus81-Eme1_nucdom_sub2    Mms4/EME1/EME2   
Domain families : Pfam (Sanger)ERCC4 (PF02732)   
Domain families : Pfam (NCBI)pfam02732   
Domain families : Smart (EMBL)ERCC4 (SM00891)  
Conserved Domain (NCBI)EME1
PDB (RSDB)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
PDB Europe2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
PDB (PDBSum)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
PDB (IMB)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
Structural Biology KnowledgeBase2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
SCOP (Structural Classification of Proteins)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
CATH (Classification of proteins structures)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
SuperfamilyQ96AY2
AlphaFold pdb e-kbQ96AY2   
Human Protein Atlas [tissue]ENSG00000154920-EME1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q96AY2
IntAct (EBI)Q96AY2
BioGRIDEME1
STRING (EMBL)EME1
ZODIACEME1
Ontologies - Pathways
QuickGOQ96AY2
Ontology : AmiGOresolution of meiotic recombination intermediates  heterochromatin  DNA binding  endonuclease activity  protein binding  nucleoplasm  nucleolus  double-strand break repair  replication fork processing  mitotic intra-S DNA damage checkpoint signaling  interstrand cross-link repair  metal ion binding  Holliday junction resolvase complex  response to intra-S DNA damage checkpoint signaling  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIresolution of meiotic recombination intermediates  heterochromatin  DNA binding  endonuclease activity  protein binding  nucleoplasm  nucleolus  double-strand break repair  replication fork processing  mitotic intra-S DNA damage checkpoint signaling  interstrand cross-link repair  metal ion binding  Holliday junction resolvase complex  response to intra-S DNA damage checkpoint signaling  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGHomologous recombination    Fanconi anemia pathway   
NDEx NetworkEME1
Atlas of Cancer Signalling NetworkEME1
Wikipedia pathwaysEME1
Orthology - Evolution
OrthoDB146956
GeneTree (enSembl)ENSG00000154920
Phylogenetic Trees/Animal Genes : TreeFamEME1
Homologs : HomoloGeneEME1
Homology/Alignments : Family Browser (UCSC)EME1
Gene fusions - Rearrangements
Fusion : MitelmanDUSP14/EME1 [17q12/17q21.33]  
Fusion : MitelmanTMPRSS6/EME1 [22q12.3/17q21.33]  
Fusion : QuiverEME1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEME1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EME1
dbVarEME1
ClinVarEME1
MonarchEME1
1000_GenomesEME1 
Exome Variant ServerEME1
GNOMAD BrowserENSG00000154920
Varsome BrowserEME1
ACMGEME1 variants
VarityQ96AY2
Genomic Variants (DGV)EME1 [DGVbeta]
DECIPHEREME1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEME1 
Mutations
ICGC Data PortalEME1 
TCGA Data PortalEME1 
Broad Tumor PortalEME1
OASIS PortalEME1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEME1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEME1
Mutations and Diseases : HGMDEME1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEME1
DgiDB (Drug Gene Interaction Database)EME1
DoCM (Curated mutations)EME1
CIViC (Clinical Interpretations of Variants in Cancer)EME1
Cancer3DEME1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610885   
Orphanet
DisGeNETEME1
MedgenEME1
Genetic Testing Registry EME1
NextProtQ96AY2 [Medical]
GENETestsEME1
Target ValidationEME1
Huge Navigator EME1 [HugePedia]
ClinGenEME1
Clinical trials, drugs, therapy
MyCancerGenomeEME1
Protein Interactions : CTDEME1
Pharm GKB GenePA134904115
PharosQ96AY2
Clinical trialEME1
Miscellaneous
canSAR (ICR)EME1
HarmonizomeEME1
DataMed IndexEME1
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEME1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:08:07 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.