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Aliases for NSMCE4A Gene

Aliases for NSMCE4A Gene

  • NSE4 Homolog A, SMC5-SMC6 Complex Component 2 3 5
  • NSE4 Homolog, SMC5-SMC6 Complex Component A 2 3
  • Non-SMC Element 4 Homolog A 3 4
  • C10orf86 3 4
  • NS4EA 3 4
  • Non-Structural Maintenance Of Chromosomes Element 4 Homolog A 3
  • Non-SMC Element 4 Homolog A (S. Cerevisiae) 2
  • Chromosome 10 Open Reading Frame 86 2
  • NSE4A 3

External Ids for NSMCE4A Gene

Previous HGNC Symbols for NSMCE4A Gene

  • C10orf86

Previous GeneCards Identifiers for NSMCE4A Gene

  • GC10M123709
  • GC10M117347
  • GC10M123716

Summaries for NSMCE4A Gene

GeneCards Summary for NSMCE4A Gene

NSMCE4A (NSE4 Homolog A, SMC5-SMC6 Complex Component) is a Protein Coding gene. Diseases associated with NSMCE4A include Chromosome 10Q26 Deletion Syndrome. Among its related pathways are SUMOylation and Metabolism of proteins. An important paralog of this gene is EID3.

UniProtKB/Swiss-Prot for NSMCE4A 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). Is involved in positive regulation of response to DNA damage stimulus.

Gene Wiki entry for NSMCE4A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMCE4A Gene

Genomics for NSMCE4A Gene

Regulatory Elements for NSMCE4A Gene

Enhancers for NSMCE4A 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
GH10F121926 1.1 ENCODE 14 +46.4 46424 5.3 HDGF PKNOX1 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 ATE1-AS1 ENSG00000224250 RPL19P16 LINC01153 FAM24A NSMCE4A ATE1 C10orf120 GC10P121933
GH10F121973 1 ENCODE 14.4 +0.3 319 1.9 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 ZNF207 NSMCE4A ATE1-AS1 ENSG00000273891
GH10F121942 0.9 Ensembl ENCODE 14.1 +32.2 32152 1.3 HLF JUN CEBPB NR3C1 ZEB1 JUND ZNF692 CEBPA PRDM10 NSMCE4A ATE1 ATE1-AS1 GC10M121946 GC10M121943
GH10F121987 0.8 ENCODE 12.9 -13.5 -13452 1.9 PKNOX1 INSM2 KLF17 GLI4 RAD21 GTF3C2 SCRT2 KLF7 FOS ZNF263 NSMCE4A ATE1 ATE1-AS1 TACC2
GH10F121983 0.7 ENCODE 13.9 -8.8 -8838 1.2 PKNOX1 CBX3 MAZ SIN3A DPF2 MNT ZNF592 ZKSCAN1 MBD2 CTBP1 NSMCE4A TACC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NSMCE4A on UCSC Golden Path with GeneCards custom track

Promoters for NSMCE4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000363105 428 2001 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 ZNF207 ZNF143

Genomic Location for NSMCE4A Gene

Chromosome:
10
Start:
121,957,088 bp from pter
End:
121,975,228 bp from pter
Size:
18,141 bases
Orientation:
Minus strand

Genomic View for NSMCE4A Gene

Genes around NSMCE4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMCE4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMCE4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMCE4A Gene

Proteins for NSMCE4A Gene

  • Protein details for NSMCE4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXX6-NSE4A_HUMAN
    Recommended name:
    Non-structural maintenance of chromosomes element 4 homolog A
    Protein Accession:
    Q9NXX6
    Secondary Accessions:
    • Q5SQQ5
    • Q6P673
    • Q8WY66
    • Q9BS90

    Protein attributes for NSMCE4A Gene

    Size:
    385 amino acids
    Molecular mass:
    44301 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.

    Alternative splice isoforms for NSMCE4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSMCE4A Gene

Post-translational modifications for NSMCE4A Gene

  • Ubiquitination at Lys 238
  • Modification sites at PhosphoSitePlus

Other Protein References for NSMCE4A Gene

No data available for DME Specific Peptides for NSMCE4A Gene

Domains & Families for NSMCE4A Gene

Gene Families for NSMCE4A Gene

Protein Domains for NSMCE4A Gene

Suggested Antigen Peptide Sequences for NSMCE4A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXX6

UniProtKB/Swiss-Prot:

NSE4A_HUMAN :
  • Belongs to the NSE4 family.
Family:
  • Belongs to the NSE4 family.
genes like me logo Genes that share domains with NSMCE4A: view

Function for NSMCE4A Gene

Molecular function for NSMCE4A 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). Is involved in positive regulation of response to DNA damage stimulus.

Gene Ontology (GO) - Molecular Function for NSMCE4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20864041
genes like me logo Genes that share ontologies with NSMCE4A: view
genes like me logo Genes that share phenotypes with NSMCE4A: view

Animal Model Products

miRNA for NSMCE4A Gene

miRTarBase miRNAs that target NSMCE4A

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSMCE4A Gene

Localization for NSMCE4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMCE4A 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 NSMCE4A gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for NSMCE4A 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:0030915 Smc5-Smc6 complex IDA 18086888
genes like me logo Genes that share ontologies with NSMCE4A: view

Pathways & Interactions for NSMCE4A Gene

genes like me logo Genes that share pathways with NSMCE4A: view

Gene Ontology (GO) - Biological Process for NSMCE4A 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:2001022 positive regulation of response to DNA damage stimulus IMP 18086888
genes like me logo Genes that share ontologies with NSMCE4A: view

No data available for SIGNOR curated interactions for NSMCE4A Gene

Transcripts for NSMCE4A Gene

Unigene Clusters for NSMCE4A Gene

Non-SMC element 4 homolog A (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSMCE4A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
SP1: - - - - - - - - - -
SP2: - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - -
SP9: -
SP10: - - -
SP11:

Relevant External Links for NSMCE4A Gene

GeneLoc Exon Structure for
NSMCE4A
ECgene alternative splicing isoforms for
NSMCE4A

Expression for NSMCE4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NSMCE4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSMCE4A Gene

This gene is overexpressed in Blymphocyte (17.3), CD8 Tcells (10.5), Peripheral blood mononuclear cells (9.0), CD4 Tcells (8.2), and Fetal ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NSMCE4A Gene



Protein tissue co-expression partners for NSMCE4A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NSMCE4A Gene:

NSMCE4A

SOURCE GeneReport for Unigene cluster for NSMCE4A Gene:

Hs.258798
genes like me logo Genes that share expression patterns with NSMCE4A: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NSMCE4A Gene

Orthologs for NSMCE4A Gene

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

Orthologs for NSMCE4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSMCE4A 34 35
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia NSMCE4A 34 35
  • 91.1 (n)
dog
(Canis familiaris)
Mammalia NSMCE4A 34 35
  • 90.74 (n)
rat
(Rattus norvegicus)
Mammalia Nsmce4a 34
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Nsmce4a 34 16 35
  • 88.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves NSMCE4A 34
  • 65.25 (n)
-- 35
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmce4a 34
  • 61.49 (n)
Str.3641 34
zebrafish
(Danio rerio)
Actinopterygii nsmce4a 34 35
  • 58.22 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6650 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSE4 37
bread mold
(Neurospora crassa)
Ascomycetes NCU00657 34
  • 43.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for NSMCE4A 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 NSMCE4A Gene

ENSEMBL:
Gene Tree for NSMCE4A (if available)
TreeFam:
Gene Tree for NSMCE4A (if available)

Paralogs for NSMCE4A Gene

Paralogs for NSMCE4A Gene

(1) SIMAP similar genes for NSMCE4A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for NSMCE4A Gene

genes like me logo Genes that share paralogs with NSMCE4A: view

Variants for NSMCE4A Gene

Sequence variations from dbSNP and Humsavar for NSMCE4A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10656394 -- 121,962,629(+) TTTTT(-/T)CAGAT intron-variant
rs1065683 -- 121,974,951(+) CCAAG(C/G)TGGCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs10709460 -- 121,976,284(+) TTTGA(-/T)TTTTT upstream-variant-2KB
rs10749437 -- 121,964,556(+) CCTGC(C/G)TCAGC intron-variant
rs10788225 -- 121,963,852(+) CCTGC(A/G)CTGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSMCE4A Gene

Variant ID Type Subtype PubMed ID
nsv1111041 CNV tandem duplication 24896259
esv3624763 CNV loss 21293372

Variation tolerance for NSMCE4A Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMCE4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSMCE4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSMCE4A Gene

Disorders for NSMCE4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for NSMCE4A Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 10q26 deletion syndrome
  • distal 10q deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NSMCE4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMCE4A
genes like me logo Genes that share disorders with NSMCE4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NSMCE4A Gene

Publications for NSMCE4A 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. Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex. (PMID: 15752197) Hu B. … Panaretou B. (Mol. Microbiol. 2005) 2 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 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 NSMCE4A Gene

Sources for NSMCE4A Gene

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