Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NSMCE1 (NSE1 homolog, SMC5-SMC6 complex component)

Identity

Alias_namesnon-SMC element 1 homolog (S. cerevisiae)
Alias_symbol (synonym)NSE1
Other alias
HGNC (Hugo) NSMCE1
LocusID (NCBI) 197370
Atlas_Id 50241
Location 16p12.1  [Link to chromosome band 16p12]
Location_base_pair Starts at 27224994 and ends at 27268792 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GPX3 (5q33.1) / NSMCE1 (16p12.1)IL4R (16p12.1) / NSMCE1 (16p12.1)NSMCE1 (16p12.1) / ABCC1 (16p13.11)
NSMCE1 (16p12.1) / IL4R (16p12.1)NSMCE1 (16p12.1) / LTBR (12p13.31)IL4R 16p12.1 / NSMCE1 16p12.1
NSMCE1 16p12.1 / IL4R 16p12.1

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)NSMCE1   29897
Cards
Entrez_Gene (NCBI)NSMCE1  197370  NSE1 homolog, SMC5-SMC6 complex component
AliasesNSE1
GeneCards (Weizmann)NSMCE1
Ensembl hg19 (Hinxton)ENSG00000169189 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169189 [Gene_View]  chr16:27224994-27268792 [Contig_View]  NSMCE1 [Vega]
ICGC DataPortalENSG00000169189
TCGA cBioPortalNSMCE1
AceView (NCBI)NSMCE1
Genatlas (Paris)NSMCE1
WikiGenes197370
SOURCE (Princeton)NSMCE1
Genetics Home Reference (NIH)NSMCE1
Genomic and cartography
GoldenPath hg38 (UCSC)NSMCE1  -     chr16:27224994-27268792 -  16p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSMCE1  -     16p12.1   [Description]    (hg19-Feb_2009)
EnsemblNSMCE1 - 16p12.1 [CytoView hg19]  NSMCE1 - 16p12.1 [CytoView hg38]
Mapping of homologs : NCBINSMCE1 [Mapview hg19]  NSMCE1 [Mapview hg38]
OMIM617263   
Gene and transcription
Genbank (Entrez)AF161451 AF161455 AK056795 AK315674 BC018938
RefSeq transcript (Entrez)NM_145080
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NSMCE1
Cluster EST : UnigeneHs.284295 [ NCBI ]
CGAP (NCI)Hs.284295
Alternative Splicing GalleryENSG00000169189
Gene ExpressionNSMCE1 [ NCBI-GEO ]   NSMCE1 [ EBI - ARRAY_EXPRESS ]   NSMCE1 [ SEEK ]   NSMCE1 [ MEM ]
Gene Expression Viewer (FireBrowse)NSMCE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)197370
GTEX Portal (Tissue expression)NSMCE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WV22   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WV22  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WV22
Splice isoforms : SwissVarQ8WV22
PhosPhoSitePlusQ8WV22
Domains : Interpro (EBI)Nse1    PE/DAG-bd    Znf_RING    Znf_RING-like   
Domain families : Pfam (Sanger)SMC_Nse1 (PF07574)    zf-RING-like (PF08746)   
Domain families : Pfam (NCBI)pfam07574    pfam08746   
Conserved Domain (NCBI)NSMCE1
DMDM Disease mutations197370
Blocks (Seattle)NSMCE1
PDB (SRS)2CT0    3NW0    5HVQ   
PDB (PDBSum)2CT0    3NW0    5HVQ   
PDB (IMB)2CT0    3NW0    5HVQ   
PDB (RSDB)2CT0    3NW0    5HVQ   
Structural Biology KnowledgeBase2CT0    3NW0    5HVQ   
SCOP (Structural Classification of Proteins)2CT0    3NW0    5HVQ   
CATH (Classification of proteins structures)2CT0    3NW0    5HVQ   
SuperfamilyQ8WV22
Human Protein AtlasENSG00000169189
Peptide AtlasQ8WV22
HPRD17648
IPIIPI00184884   
Protein Interaction databases
DIP (DOE-UCLA)Q8WV22
IntAct (EBI)Q8WV22
FunCoupENSG00000169189
BioGRIDNSMCE1
STRING (EMBL)NSMCE1
ZODIACNSMCE1
Ontologies - Pathways
QuickGOQ8WV22
Ontology : AmiGOdouble-strand break repair via homologous recombination  chromosome, telomeric region  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  postreplication repair  zinc ion binding  protein ubiquitination  ligase activity  Smc5-Smc6 complex  intracellular signal transduction  intracellular membrane-bounded organelle  protein dimerization activity  positive regulation of response to DNA damage stimulus  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  chromosome, telomeric region  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  postreplication repair  zinc ion binding  protein ubiquitination  ligase activity  Smc5-Smc6 complex  intracellular signal transduction  intracellular membrane-bounded organelle  protein dimerization activity  positive regulation of response to DNA damage stimulus  
NDEx NetworkNSMCE1
Atlas of Cancer Signalling NetworkNSMCE1
Wikipedia pathwaysNSMCE1
Orthology - Evolution
OrthoDB197370
GeneTree (enSembl)ENSG00000169189
Phylogenetic Trees/Animal Genes : TreeFamNSMCE1
HOVERGENQ8WV22
HOGENOMQ8WV22
Homologs : HomoloGeneNSMCE1
Homology/Alignments : Family Browser (UCSC)NSMCE1
Gene fusions - Rearrangements
Fusion : MitelmanIL4R/NSMCE1 [16p12.1/16p12.1]  [t(16;16)(p12;p12)]  
Fusion : MitelmanNSMCE1/IL4R [16p12.1/16p12.1]  [t(16;16)(p12;p12)]  
Fusion: TCGAIL4R 16p12.1 NSMCE1 16p12.1 SKCM
Fusion: TCGANSMCE1 16p12.1 IL4R 16p12.1 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSMCE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSMCE1
dbVarNSMCE1
ClinVarNSMCE1
1000_GenomesNSMCE1 
Exome Variant ServerNSMCE1
ExAC (Exome Aggregation Consortium)NSMCE1 (select the gene name)
Genetic variants : HAPMAP197370
Genomic Variants (DGV)NSMCE1 [DGVbeta]
DECIPHERNSMCE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSMCE1 
Mutations
ICGC Data PortalNSMCE1 
TCGA Data PortalNSMCE1 
Broad Tumor PortalNSMCE1
OASIS PortalNSMCE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSMCE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNSMCE1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NSMCE1
DgiDB (Drug Gene Interaction Database)NSMCE1
DoCM (Curated mutations)NSMCE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSMCE1 (select a term)
intoGenNSMCE1
Cancer3DNSMCE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617263   
Orphanet
MedgenNSMCE1
Genetic Testing Registry NSMCE1
NextProtQ8WV22 [Medical]
TSGene197370
GENETestsNSMCE1
Target ValidationNSMCE1
Huge Navigator NSMCE1 [HugePedia]
snp3D : Map Gene to Disease197370
BioCentury BCIQNSMCE1
ClinGenNSMCE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD197370
Chemical/Pharm GKB GenePA134943761
Clinical trialNSMCE1
Miscellaneous
canSAR (ICR)NSMCE1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSMCE1
EVEXNSMCE1
GoPubMedNSMCE1
iHOPNSMCE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:09:28 CEST 2017

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