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Aliases for NSMCE1 Gene

Aliases for NSMCE1 Gene

  • NSE1 Homolog, SMC5-SMC6 Complex Component 2 3 5
  • Non-SMC Element 1 Homolog 3 4
  • Non-Structural Maintenance Of Chromosomes Element 1 Homolog 3
  • Non-SMC Element 1 Homolog (S. Cerevisiae) 2
  • EC 6.3.2.- 4
  • NSE1 3

External Ids for NSMCE1 Gene

Previous GeneCards Identifiers for NSMCE1 Gene

  • GC16M027144
  • GC16M025325

Summaries for NSMCE1 Gene

GeneCards Summary for NSMCE1 Gene

NSMCE1 (NSE1 Homolog, SMC5-SMC6 Complex Component) is a Protein Coding gene. Among its related pathways are SUMOylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for NSMCE1 Gene

  • Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Has in vitro ubiquitin ligase activity in presence of NSMCE3. Is involved in positive regulation of response to DNA damage stimulus.

Additional gene information for NSMCE1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMCE1 Gene

Genomics for NSMCE1 Gene

GeneHancer (GH) Regulatory Elements for NSMCE1 Gene

Promoters and enhancers for NSMCE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I027267 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -0.1 -93 3.1 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B IRF4 FLJ21408 NSMCE1 IL4R KDM8 ENSG00000259940
GH16I027268 Promoter 0.6 EPDnew 550.8 +1.8 1756 0.1 ADNP FLJ21408 NSMCE1 ENSG00000259940
GH16I027312 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 -54.0 -53964 19.6 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 IL4R FLJ21408 NSMCE1 GTF3C1 IL21R KIAA0556 GSG1L ENSG00000259940 KDM8 ENSG00000274092
GH16I027228 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +30.6 30553 19.1 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 ENSG00000259940 KDM8 NSMCE1 IL4R IL21R KIAA0556 FLJ21408
GH16I027188 Enhancer 0.9 FANTOM5 ENCODE 11.6 +79.2 79173 1.5 TFAP4 FOXA2 TAF1 ZFP64 MAX RAD21 YY1 TEAD3 HNF4G ZBTB20 NSMCE1 FLJ21408 KDM8 PIR46766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NSMCE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NSMCE1 gene promoter:

Genomic Locations for NSMCE1 Gene

Genomic Locations for NSMCE1 Gene
chr16:27,224,991-27,268,809
(GRCh38/hg38)
Size:
43,819 bases
Orientation:
Minus strand
chr16:27,236,312-27,280,115
(GRCh37/hg19)

Genomic View for NSMCE1 Gene

Genes around NSMCE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMCE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMCE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMCE1 Gene

Proteins for NSMCE1 Gene

  • Protein details for NSMCE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV22-NSE1_HUMAN
    Recommended name:
    Non-structural maintenance of chromosomes element 1 homolog
    Protein Accession:
    Q8WV22
    Secondary Accessions:
    • D3DWF6
    • Q9P045
    • Q9P049

    Protein attributes for NSMCE1 Gene

    Size:
    266 amino acids
    Molecular mass:
    30855 Da
    Quaternary structure:
    • Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. NSMCE1, NSMCE4A or EID3 and NSMCE3 probably form a subcomplex that bridges the head domains of the SMC5:SMC6 heterodimer (PubMed:18086888, PubMed:20864041). Interacts with NSMCE3 (PubMed:27427983).
    SequenceCaution:
    • Sequence=AAF29011.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAF29015.1; Type=Frameshift; Positions=147; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NSMCE1 Gene

neXtProt entry for NSMCE1 Gene

Post-translational modifications for NSMCE1 Gene

No data available for DME Specific Peptides for NSMCE1 Gene

Domains & Families for NSMCE1 Gene

Gene Families for NSMCE1 Gene

Protein Domains for NSMCE1 Gene

Suggested Antigen Peptide Sequences for NSMCE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WV22

UniProtKB/Swiss-Prot:

NSE1_HUMAN :
  • Belongs to the NSE1 family.
Family:
  • Belongs to the NSE1 family.
genes like me logo Genes that share domains with NSMCE1: view

Function for NSMCE1 Gene

Molecular function for NSMCE1 Gene

UniProtKB/Swiss-Prot Function:
Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Has in vitro ubiquitin ligase activity in presence of NSMCE3. Is involved in positive regulation of response to DNA damage stimulus.

Enzyme Numbers (IUBMB) for NSMCE1 Gene

Phenotypes From GWAS Catalog for NSMCE1 Gene

Gene Ontology (GO) - Molecular Function for NSMCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 20864041
GO:0005515 protein binding IPI 14701739
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0046983 protein dimerization activity IDA 27427983
genes like me logo Genes that share ontologies with NSMCE1: view
genes like me logo Genes that share phenotypes with NSMCE1: view

Animal Model Products

miRNA for NSMCE1 Gene

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSMCE1 Gene

Localization for NSMCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMCE1 Gene

Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSMCE1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSMCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0030915 Smc5-Smc6 complex IDA,IEA 18086888
genes like me logo Genes that share ontologies with NSMCE1: view

Pathways & Interactions for NSMCE1 Gene

genes like me logo Genes that share pathways with NSMCE1: view

Gene Ontology (GO) - Biological Process for NSMCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0006281 DNA repair IEA --
GO:0006301 postreplication repair IBA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with NSMCE1: view

No data available for SIGNOR curated interactions for NSMCE1 Gene

Drugs & Compounds for NSMCE1 Gene

No Compound Related Data Available

Transcripts for NSMCE1 Gene

Unigene Clusters for NSMCE1 Gene

Non-SMC element 1 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSMCE1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c · 14d
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7: - -
SP8: -
SP9:
SP10: - - - - -

Relevant External Links for NSMCE1 Gene

GeneLoc Exon Structure for
NSMCE1
ECgene alternative splicing isoforms for
NSMCE1

Expression for NSMCE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NSMCE1 Gene

Protein differential expression in normal tissues from HIPED for NSMCE1 Gene

This gene is overexpressed in Breast (24.9), Peripheral blood mononuclear cells (10.8), Blymphocyte (8.7), and Lymph node (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NSMCE1 Gene



Protein tissue co-expression partners for NSMCE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NSMCE1 Gene:

NSMCE1

SOURCE GeneReport for Unigene cluster for NSMCE1 Gene:

Hs.284295

Evidence on tissue expression from TISSUES for NSMCE1 Gene

  • Pancreas(4.2)
  • Blood(4.1)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with NSMCE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSMCE1 Gene

Orthologs for NSMCE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NSMCE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSMCE1 33 34
  • 99 (n)
cow
(Bos Taurus)
Mammalia NSMCE1 33 34
  • 87.89 (n)
dog
(Canis familiaris)
Mammalia NSMCE1 33 34
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia Nsmce1 33
  • 86.34 (n)
mouse
(Mus musculus)
Mammalia Nsmce1 16 34 33
  • 86.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NSMCE1 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSMCE1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMCE1 33 34
  • 66.09 (n)
lizard
(Anolis carolinensis)
Reptilia NSMCE1 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmce1 33
  • 60.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68739 33
zebrafish
(Danio rerio)
Actinopterygii nsmce1 33 34
  • 56.62 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10623 33
fruit fly
(Drosophila melanogaster)
Insecta CG11329 34
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSE1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToOne
Species where no ortholog for NSMCE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSMCE1 Gene

ENSEMBL:
Gene Tree for NSMCE1 (if available)
TreeFam:
Gene Tree for NSMCE1 (if available)

Paralogs for NSMCE1 Gene

No data available for Paralogs for NSMCE1 Gene

Variants for NSMCE1 Gene

Sequence variations from dbSNP and Humsavar for NSMCE1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000007600 -- 27,268,950(-) C/T upstream_transcript_variant
rs1000103418 -- 27,269,234(-) C/G upstream_transcript_variant
rs1000142522 -- 27,270,291(-) C/T upstream_transcript_variant
rs1000157953 -- 27,243,843(-) G/A intron_variant
rs1000169719 -- 27,235,790(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NSMCE1 Gene

Variant ID Type Subtype PubMed ID
dgv2828n100 CNV gain 25217958
esv3638319 CNV gain 21293372
esv3638320 CNV loss 21293372
nsv1059454 CNV gain 25217958
nsv952959 CNV deletion 24416366

Variation tolerance for NSMCE1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSMCE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSMCE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSMCE1 Gene

Disorders for NSMCE1 Gene

Additional Disease Information for NSMCE1

No disorders were found for NSMCE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NSMCE1 Gene

Publications for NSMCE1 Gene

  1. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. (PMID: 27427983) van der Crabben SN … van Haaften G (The Journal of clinical investigation 2016) 3 4 58
  2. Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families. (PMID: 21364888) Hudson JJ … Palecek J (PloS one 2011) 3 4 58
  3. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PMID: 20864041) Doyle JM … Potts PR (Molecular cell 2010) 3 4 58
  4. Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. (PMID: 18086888) Taylor EM … Lehmann AR (Molecular and cellular biology 2008) 3 4 58
  5. Coordination of DNA damage responses via the Smc5/Smc6 complex. (PMID: 14701739) Harvey SH … O'Connell MJ (Molecular and cellular biology 2004) 3 4 58

Products for NSMCE1 Gene

Sources for NSMCE1 Gene

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