NSMCE3
entrez
56160
canonical
uniprot
Q96MG7
canonical
ensembl
ENSG00000185115
resolver
ensembl
ENSG00000282130
resolver
ensp
ENSP00000330694
resolver
ensp
ENSP00000487893
resolver
enst
ENST00000332303
resolver
enst
ENST00000631973
resolver
genesymbol
NSMCE3
resolver
genesymbol_syn
HCA4
resolver
genesymbol_syn
MAGEG1
resolver
genesymbol_syn
NDNL2
resolver
hgnc
HGNC:7677
resolver
uniprot
Q8IW16
resolver
uniprot
Q8TEI6
resolver
uniprot
Q9H214
resolver
uniprot_entry
NSE3_HUMAN
resolver
uniprot_sec
Q8IW16
resolver
uniprot_sec
Q8TEI6
resolver
uniprot_sec
Q9H214
resolver
amino_acid_sequence
MLQKPRNRGRSGGQAERDRDWSHSGNPGASRAGEDARVLRDGFAEEAPSTSRGPGGSQGSQGPSPQGARRAQAAPAVGPRSQKQLELKVSELVQFLLIKDQKKIPIKRADILKHVIGDYKDIFPDLFKRAAERLQYVFGYKLVELEPKSNTYILINTLEPVEEDAEMRGDQGTPTTGLLMIVLGLIFMKGNTIKETEAWDFLRRLGVYPTKKHLIFGDPKKLITEDFVRQRYLEYRRIPHTDPVDYEFQWGPRTNLETSKMKVLKFVAKVHNQDPKDWPAQYCEALADEENRARPQPSGPAPSS
uniprot
proteins
disease_involvement
DISEASE: Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241]: 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. {ECO:0000269|PubMed:27427983}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). 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 (PubMed:20864041). May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest (By similarity). {ECO:0000250|UniProtKB:Q9CPR8, ECO:0000269|PubMed:20864041, ECO:0000269|PubMed:27427983}.
uniprot
proteins
mass_dalton
34308
uniprot
proteins
mutagenesis
MUTAGEN 96..97; /note="LL->AA: Decreases interaction with NSMCE1, no effect on interaction with NSMCE4A, abolishes in vitro promotion of NSMCE1 ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:20864041"; MUTAGEN 180; /note="M->A: Abolishes interaction with EID3."; /evidence="ECO:0000269|PubMed:21364888"; MUTAGEN 181; /note="I->A: Abolishes interaction with EID3."; /evidence="ECO:0000269|PubMed:21364888"; MUTAGEN 185; /note="L->A: Abolishes interaction with EID3."; /evidence="ECO:0000269|PubMed:21364888"; MUTAGEN 266; /note="F->A: Abolishes interaction with EID3."; /evidence="ECO:0000269|PubMed:21364888"; MUTAGEN 270; /note="V->A: Abolishes interaction with EID3."; /evidence="ECO:0000269|PubMed:21364888
uniprot
proteins
pubmed
11782285
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18086888
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20864041
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21364888
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27427983
uniprot
proteins
sequence_length
304
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269|PubMed:18086888}. Chromosome, telomere {ECO:0000305|PubMed:18086888}.
uniprot
proteins