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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
  • 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
  • Necdin-Like 2 2
  • 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. Diseases associated with NSMCE3 include Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome. Among its related pathways are Metabolism of proteins and p75(NTR)-mediated signaling. 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 CIViC summary , 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
GH15G029139 1 Ensembl ENCODE 11 +129.7 129659 1.4 CTCF ESRRA RB1 ZNF473 RBBP5 RAD21 EED ZNF143 SMC3 NR2F6 NSMCE3 HERC2P9 GOLGA8M GC15P029119 GC15P029234
GH15G029312 0.7 ENCODE 11.4 -42.9 -42882 0.8 CTCF SRF MTA2 BHLHE40 ZBED1 NR2F1 CEBPB JUNB ARID3A TCF7 NSMCE3 ENSG00000259690
GH15G029309 0.7 ENCODE 11.4 -39.5 -39483 0.2 BACH1 RFX5 ARID3A IKZF2 CREM CHD2 MTA2 NR2F1 ZBED1 BHLHE40 NSMCE3 ENSG00000259690
GH15G028987 1.2 FANTOM5 ENCODE dbSUPER 6.3 +283.5 283490 0.2 JUND BHLHE40 FOS ZIC2 APBA2 NSMCE3 ENSG00000259277 PIR55356
GH15G029268 1 ENCODE 6.1 -0.3 -275 3.2 ATF1 CREB3L1 ZNF133 ARID4B SIN3A BRCA1 ZNF2 ZNF48 ZNF121 ZNF207 NSMCE3 ENSG00000259690
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000074294 429 2801 ATF1 ARID4B SIN3A BRCA1 ZNF2 ZNF48 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

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

No data available for UniProtKB/Swiss-Prot for NSMCE3 Gene

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
GO:0046983 protein dimerization activity IDA 27427983
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.

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 NSMCE3 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

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

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 IMP,IEA 27427983
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0031398 positive regulation of protein ubiquitination IDA 20864041
GO:0034644 cellular response to UV IMP 27427983
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 :
(131) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

mRNA Expression by UniProt/SwissProt for NSMCE3 Gene:

Q96MG7-NSE3_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NSMCE3 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Muscle(4.2)
  • Spleen(4.2)
  • Liver(4.1)

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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35
  • 80.34 (n)
Nsmce3 16
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
VAR_078021 Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241]
VAR_078022 Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241]
rs199905054 Pathogenic 29,268,916(+) CTTAA(A/G)AACTT intron-variant, reference, missense
rs886037827 Pathogenic 29,269,080(-) CTACC(C/T)CACCA intron-variant, reference, missense
rs1000691089 -- 29,268,185(+) AATAA(C/T)TACAG intron-variant, utr-variant-3-prime

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

Human Gene Mutation Database (HGMD)
NSMCE3
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

MalaCards: The human disease database

(1) MalaCards diseases for NSMCE3 Gene - From: ClinVar, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NSMCE3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMCE3
genes like me logo Genes that share disorders with NSMCE3: view

No data available for 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NSMCE3 Gene

Sources for NSMCE3 Gene

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