Entity Details

Primary name NSE3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96MG7
EntryNameNSE3_HUMAN
FullNameNon-structural maintenance of chromosomes element 3 homolog
TaxID9606
Evidenceevidence at protein level
Length304
SequenceStatuscomplete
DateCreated2004-04-13
DateModified2021-06-02

Ontological Relatives

GenesNSMCE3

GO terms

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GOName
GO:0000781 chromosome, telomeric region
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0030915 Smc5-Smc6 complex
GO:0031398 positive regulation of protein ubiquitination
GO:0034644 cellular response to UV
GO:0040008 regulation of growth
GO:0046983 protein dimerization activity
GO:0071478 cellular response to radiation
GO:0072711 cellular response to hydroxyurea

Subcellular Location

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Subcellular Location
Chromosome
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002190 MAGE homology domainDomainDomain
IPR037445 Melanoma-associated antigenFamilyFamily
IPR041898 MAGE homology domain, winged helix WH1 motifFamilyHomologous superfamily
IPR041899 MAGE homology domain, winged helix WH2 motifFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617241 OMIMLung disease, immunodeficiency, and chromosome breakage syndrome (LICS)An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.