NSMCE2
entrez
286053
canonical
uniprot
Q96MF7
canonical
ensembl
ENSG00000156831
resolver
ensp
ENSP00000287437
resolver
ensp
ENSP00000430668
resolver
ensp
ENSP00000478256
resolver
ensp
ENSP00000481615
resolver
ensp
ENSP00000567108
resolver
ensp
ENSP00000567109
resolver
ensp
ENSP00000567110
resolver
ensp
ENSP00000567111
resolver
ensp
ENSP00000567112
resolver
ensp
ENSP00000567114
resolver
ensp
ENSP00000567115
resolver
ensp
ENSP00000567116
resolver
ensp
ENSP00000586133
resolver
ensp
ENSP00000586134
resolver
ensp
ENSP00000586135
resolver
ensp
ENSP00000635167
resolver
ensp
ENSP00000635168
resolver
ensp
ENSP00000635169
resolver
ensp
ENSP00000789750
resolver
enst
ENST00000287437
resolver
enst
ENST00000519010
resolver
enst
ENST00000520866
resolver
enst
ENST00000522563
resolver
enst
ENST00000897049
resolver
enst
ENST00000897050
resolver
enst
ENST00000897051
resolver
enst
ENST00000897052
resolver
enst
ENST00000897053
resolver
enst
ENST00000897055
resolver
enst
ENST00000897056
resolver
enst
ENST00000897057
resolver
enst
ENST00000916074
resolver
enst
ENST00000916075
resolver
enst
ENST00000916076
resolver
enst
ENST00000965108
resolver
enst
ENST00000965109
resolver
enst
ENST00000965110
resolver
genesymbol
NSMCE2
resolver
genesymbol_syn
C8orf36
resolver
genesymbol_syn
MMS21
resolver
hgnc
HGNC:26513
resolver
uniprot
A0A087WTZ8
resolver
uniprot
Q8N549
resolver
uniprot_entry
A0A087WTZ8_HUMAN
resolver
uniprot_entry
NSE2_HUMAN
resolver
uniprot_sec
Q8N549
resolver
amino_acid_sequence
MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHTDIRKSDLIQDEALRRAIENHNKKRHRHSE
uniprot
proteins
disease_involvement
DISEASE: Seckel syndrome 10 (SCKL10) [MIM:617253]: A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. {ECO:0000269|PubMed:25105364}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.-
uniprot
proteins
function
FUNCTION: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination (PubMed:16055714, PubMed:16810316). Is not be required for the stability of the complex (PubMed:16055714, PubMed:16810316). The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks (PubMed:16055714, PubMed:16810316). 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) (PubMed:17589526). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TSNAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, RAD51AP1, and maybe the cohesin components RAD21 and STAG2 (PubMed:16055714, PubMed:16810316, PubMed:17589526, PubMed:31400850). Required for recruitment of telomeres to PML nuclear bodies (PubMed:17589526). SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines (PubMed:17589526). Required for sister chromatid cohesion during prometaphase and mitotic progression (PubMed:19502785). {ECO:0000269|PubMed:16055714, ECO:0000269|PubMed:16810316, ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:19502785, ECO:0000269|PubMed:31400850}.
uniprot
proteins
mass_dalton
27932
uniprot
proteins
mutagenesis
MUTAGEN 169; /note="C->A: Induces a strong decrease in SUMO ligase activity."; /evidence="ECO:0000269|PubMed:16055714"; MUTAGEN 185; /note="C->A: Induces a strong decrease in SUMO ligase activity."; /evidence="ECO:0000269|PubMed:16055714"; MUTAGEN 187; /note="H->A: Induces a strong decrease in SUMO ligase activity."; /evidence="ECO:0000269|PubMed:16055714"; MUTAGEN 210; /note="C->A: Induces a strong decrease in SUMO ligase activity."; /evidence="ECO:0000269|PubMed:16055714"; MUTAGEN 215; /note="C->A: Induces a strong decrease in SUMO ligase activity."; /evidence="ECO:0000269|PubMed:16055714
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein sumoylation. {ECO:0000269|PubMed:16055714, ECO:0000269|PubMed:16810316, ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:31400850}.
uniprot
proteins
post_translational_modification
PTM: Sumoylated, possibly via autosumoylation. {ECO:0000269|PubMed:16055714, ECO:0000269|PubMed:18086888}.
uniprot
proteins
protein_family
NSE2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16055714
uniprot
proteins
pubmed
16810316
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17589526
uniprot
proteins
pubmed
18086888
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19502785
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25105364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31400850
uniprot
proteins
pubmed
31585101
uniprot
proteins
sequence_length
247
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18086888}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Nucleus, PML body {ECO:0000269|PubMed:17589526}. Note=Localizes to PML nuclear bodies in ALT cell lines. {ECO:0000269|PubMed:17589526}.
uniprot
proteins