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Aliases for NSMCE1 Gene

Aliases for NSMCE1 Gene

  • NSE1 Homolog, SMC5-SMC6 Complex Component 2 3 5
  • Non-Structural Maintenance Of Chromosomes Element 1 Homolog 3 4
  • Non-SMC Element 1 Homolog 3 4
  • Non-SMC Element 1 Homolog (S. Cerevisiae) 2
  • EC 2.3.2.27 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

  • RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors (PubMed:29225034).

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
GH16J027267 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.7 0.0 -24 3.3 SP1 ZFX ELF3 POLR2A MLLT1 CEBPG GTF2F1 CSDE1 ZNF687 AHR NSMCE1 NSMCE1-DT IL4R KDM8 ENSG00000259940
GH16J027268 Promoter 0.6 EPDnew 600.7 +1.8 1756 0.1 ADNP NSMCE1 NSMCE1-DT ENSG00000259940
GH16J027312 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 -53.9 -53874 19.8 ZNF652 SP1 ELF3 NKRF POLR2A ZNF121 CEBPG RERE ZNF687 AHR IL4R NSMCE1-DT NSMCE1 GTF3C1 IL21R KIAA0556 GSG1L ENSG00000259940 KDM8 ENSG00000274092
GH16J027228 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +31.0 30965 18.3 SP1 CC2D1A CTCF ZKSCAN8 CBFA2T2 MLLT1 ZNF687 NCOA3 MAFK MYC ENSG00000259940 KDM8 NSMCE1 IL4R IL21R KIAA0556 NSMCE1-DT
GH16J027188 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.6 +79.2 79173 1.5 SP1 ZNF680 RXRA FOXA2 ZBTB20 ZNF205 JUND ATF3 YY1 ZBTB33 NSMCE1 NSMCE1-DT KDM8 PIR46766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSMCE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NSMCE1 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • HEN1
  • JunB
  • JunD
  • POU2F2C

Genomic Locations for NSMCE1 Gene

Genomic Locations for NSMCE1 Gene
chr16:27,224,994-27,268,809
(GRCh38/hg38)
Size:
43,816 bases
Orientation:
Minus strand
chr16:27,236,312-27,280,115
(GRCh37/hg19)
Size:
43,804 bases
Orientation:
Minus strand

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). Interacts with MAGEF1 (PubMed:29225034).
    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

  • Ubiquitinated.
  • Ubiquitination at isoforms=218, posLast=241241, isoforms=152, posLast=157157, and isoforms=42
  • Modification sites at PhosphoSitePlus

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

GenScript: Design optimal peptide antigens:
  • Non-structural maintenance of chromosomes element 1 homolog (NSE1_HUMAN)

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:
RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors (PubMed:29225034).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269 PubMed:20864041, ECO:0000269 PubMed:29225034};.

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,IBA 20864041
GO:0005515 protein binding IPI 14701739
GO:0016740 transferase 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

CRISPR Products

miRNA for NSMCE1 Gene

Clone Products

  • Applied Biological Materials (abm): Clones for NSMCE1 - Now 50% OFF >
  • * NSMCE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NSMCE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 4
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 21873635
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 21873635
GO:0006281 DNA repair IEA --
GO:0006301 postreplication repair IBA 21873635
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

mRNA/cDNA for NSMCE1 Gene

Unigene Clusters for NSMCE1 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for NSMCE1 - Now 50% OFF >
  • * NSMCE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NSMCE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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, 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 35 34
  • 99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSMCE1 35 34
  • 87.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSMCE1 35 34
  • 87.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsmce1 34
  • 86.34 (n)
mouse
(Mus musculus)
Mammalia Nsmce1 17 35 34
  • 86.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NSMCE1 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSMCE1 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMCE1 35 34
  • 66.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSMCE1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmce1 34
  • 60.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68739 34
zebrafish
(Danio rerio)
Actinopterygii nsmce1 35 34
  • 56.62 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10623 34
fruit fly
(Drosophila melanogaster)
Insecta CG11329 35
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSE1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NSMCE1: view image

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/A/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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