Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NSMCE3 Gene

Aliases for NSMCE3 Gene

  • NSE3 Homolog, SMC5-SMC6 Complex Component 2 3 5
  • Hepatocellular Carcinoma-Associated Protein 4 3 4
  • Necdin-Like 2, SMC5-SMC6 Complex Component 2 3
  • Melanoma-Associated Antigen G1 3 4
  • Non-SMC Element 3 Homolog 3 4
  • Necdin-Like Protein 2 3 4
  • MAGE-G1 Antigen 3 4
  • Necdin-Like 2 2 3
  • MAGEG1 3 4
  • NDNL2 3 4
  • HCA4 3 4
  • Non-Structural Maintenance Of Chromosomes Element 3 Homolog 3
  • Hepatocellular Carcinoma-Associated Protein HCA4 3
  • Melanoma Antigen, Family G, 1 3
  • Necdin-Like Gene 2 3
  • MAGEL3 3
  • LICS 3
  • NSE3 3

External Ids for NSMCE3 Gene

Previous HGNC Symbols for NSMCE3 Gene

  • NDNL2

Summaries for NSMCE3 Gene

Entrez Gene Summary for NSMCE3 Gene

  • The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]

GeneCards Summary for NSMCE3 Gene

NSMCE3 (NSE3 Homolog, SMC5-SMC6 Complex Component) is a Protein Coding gene. Among its related pathways are SUMOylation and Metabolism of proteins. An important paralog of this gene is MAGEF1.

UniProtKB/Swiss-Prot for NSMCE3 Gene

  • Component of the SMC5-SMC6 complex, a complex involved in repair of 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). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMCE3 Gene

Genomics for NSMCE3 Gene

Regulatory Elements for NSMCE3 Gene

Enhancers for NSMCE3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F029309 1 ENCODE 11.4 -39.5 -39483 0.2 MTA2 BHLHE40 ZBED1 JUNB TBX21 EP300 RFX5 MLLT1 CREM CHD2 NSMCE3 ENSG00000259690
GH15F029312 1.1 ENCODE 11.4 -42.9 -42882 0.8 SRF MTA2 ZBED1 TCF7 CEBPB JUNB NSMCE3 ENSG00000259690
GH15F029348 0.2 ENCODE 11.2 -78.8 -78822 0.9 NSMCE3 ENSG00000259690
GH15F029139 0.8 Ensembl ENCODE 11 +129.7 129659 1.4 CTCF RAD21 EED ZNF143 SMC3 NR2F6 ZNF263 ZNF654 MAZ HCFC1 NSMCE3 HERC2P9 GOLGA8M GC15P029119 GC15P029234
GH15F028984 1.6 FANTOM5 Ensembl ENCODE 6.3 +284.3 284332 1.9 JUND SMARCA4 POLR2A BHLHE40 FOS ZIC2 ATF2 SPI1 APBA2 NSMCE3 HERC2P9 ENSG00000259277 PIR55356
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NSMCE3 on UCSC Golden Path with GeneCards custom track

Promoters for NSMCE3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001022646 829 3601 ATF1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 ZNF121 ZNF207 FOS ZHX2

Genomic Location for NSMCE3 Gene

Chromosome:
15
Start:
29,264,992 bp from pter
End:
29,269,829 bp from pter
Size:
4,838 bases
Orientation:
Minus strand

Genomic View for NSMCE3 Gene

Genes around NSMCE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMCE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMCE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMCE3 Gene

Proteins for NSMCE3 Gene

  • Protein details for NSMCE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MG7-NSE3_HUMAN
    Recommended name:
    Non-structural maintenance of chromosomes element 3 homolog
    Protein Accession:
    Q96MG7
    Secondary Accessions:
    • Q8IW16
    • Q8TEI6
    • Q9H214

    Protein attributes for NSMCE3 Gene

    Size:
    304 amino acids
    Molecular mass:
    34308 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. Interacts with PJA1. Binds the C-terminus of E2F1 and NGFR (By similarity).
    SequenceCaution:
    • Sequence=BAB84964.1; Type=Frameshift; Positions=290; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NSMCE3 Gene

neXtProt entry for NSMCE3 Gene

Post-translational modifications for NSMCE3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NSMCE3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NSMCE3 Gene

Domains & Families for NSMCE3 Gene

Gene Families for NSMCE3 Gene

Protein Domains for NSMCE3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NSMCE3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MG7

UniProtKB/Swiss-Prot:

NSE3_HUMAN :
  • Contains 1 MAGE domain.
Domain:
  • Contains 1 MAGE domain.
genes like me logo Genes that share domains with NSMCE3: view

Function for NSMCE3 Gene

Molecular function for NSMCE3 Gene

UniProtKB/Swiss-Prot Function:
Component of the SMC5-SMC6 complex, a complex involved in repair of 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). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest.

Gene Ontology (GO) - Molecular Function for NSMCE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18086888
genes like me logo Genes that share ontologies with NSMCE3: view
genes like me logo Genes that share phenotypes with NSMCE3: view

Animal Model Products

miRNA for NSMCE3 Gene

miRTarBase miRNAs that target NSMCE3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSMCE3 Gene

Localization for NSMCE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMCE3 Gene

Cytoplasm. Nucleus. Chromosome, telomere.

Gene Ontology (GO) - Cellular Components for NSMCE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NSMCE3: view

No data available for Subcellular locations from COMPARTMENTS for NSMCE3 Gene

Pathways & Interactions for NSMCE3 Gene

genes like me logo Genes that share pathways with NSMCE3: view

Gene Ontology (GO) - Biological Process for NSMCE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0016925 protein sumoylation TAS --
GO:0031398 positive regulation of protein ubiquitination IDA 20864041
genes like me logo Genes that share ontologies with NSMCE3: view

No data available for SIGNOR curated interactions for NSMCE3 Gene

Transcripts for NSMCE3 Gene

mRNA/cDNA for NSMCE3 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(131) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NSMCE3 Gene

Necdin-like 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSMCE3 Gene

No ASD Table

Relevant External Links for NSMCE3 Gene

GeneLoc Exon Structure for
NSMCE3
ECgene alternative splicing isoforms for
NSMCE3

Expression for NSMCE3 Gene

NURSA nuclear receptor signaling pathways regulating expression of NSMCE3 Gene:

NSMCE3

SOURCE GeneReport for Unigene cluster for NSMCE3 Gene:

Hs.94011

mRNA Expression by UniProt/SwissProt for NSMCE3 Gene:

Q96MG7-NSE3_HUMAN
Tissue specificity: Ubiquitous.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NSMCE3 Gene

Orthologs for NSMCE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NSMCE3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDNL2 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia NDNL2 34
  • 87.06 (n)
rat
(Rattus norvegicus)
Mammalia Ndnl2 34
  • 81.06 (n)
mouse
(Mus musculus)
Mammalia Ndnl2 34 16 35
  • 80.34 (n)
cow
(Bos Taurus)
Mammalia NDNL2 34 35
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 46 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 44 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDNL2 34
  • 62.52 (n)
MAGE 35
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndnl2 34
  • 60.09 (n)
zebrafish
(Danio rerio)
Actinopterygii ndnl2 35
  • 45 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4035 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for NSMCE3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 NSMCE3 Gene

ENSEMBL:
Gene Tree for NSMCE3 (if available)
TreeFam:
Gene Tree for NSMCE3 (if available)

Paralogs for NSMCE3 Gene

Variants for NSMCE3 Gene

Sequence variations from dbSNP and Humsavar for NSMCE3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs111645067 -- 29,269,305(+) ACTGG(A/G)GGCGC intron-variant, reference, missense
rs111896272 -- 29,267,990(+) CAGTG(A/T)GAAAT intron-variant, downstream-variant-500B
rs11364583 -- 29,270,654(+) TGAGG(-/A)AAAAA intron-variant, upstream-variant-2KB
rs113776441 -- 29,268,859(+) CTCAC(A/G)GTACT intron-variant, reference, missense
rs114318320 -- 29,269,662(+) TCTCG(A/G)CCTGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NSMCE3 Gene

Variant ID Type Subtype PubMed ID
esv2751526 CNV loss 17911159
esv2761859 CNV loss 21179565
nsv1039798 CNV gain 25217958
nsv1040778 CNV loss 25217958
nsv1148560 OTHER inversion 26484159
nsv515660 CNV gain 19592680
nsv522597 CNV loss 19592680
nsv527255 CNV gain 19592680
nsv568675 CNV gain 21841781

Variation tolerance for NSMCE3 Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.87; 74.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMCE3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSMCE3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSMCE3 Gene

Disorders for NSMCE3 Gene

Relevant External Links for NSMCE3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMCE3

No disorders were found for NSMCE3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NSMCE3 Gene

Publications for NSMCE3 Gene

  1. Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. (PMID: 18086888) Taylor E.M. … Lehmann A.R. (Mol. Cell. Biol. 2008) 2 3 4 64
  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 J.J. … Palecek J. (PLoS ONE 2011) 3 4 64
  3. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PMID: 20864041) Doyle J.M. … Potts P.R. (Mol. Cell 2010) 3 4 64
  4. Necdin-related MAGE proteins differentially interact with the E2F1 transcription factor and the p75 neurotrophin receptor. (PMID: 14593116) Kuwako K. … Yoshikawa K. (J. Biol. Chem. 2004) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for NSMCE3 Gene

Sources for NSMCE3 Gene

Content
Loading form....