UniProtKB - Q8WV22 (NSE1_HUMAN)
Protein
Non-structural maintenance of chromosomes element 1 homolog
Gene
NSMCE1
Organism
Homo sapiens (Human)
Status
Functioni
RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors (PubMed:29225034).3 Publications
Catalytic activityi
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.2 Publications EC:2.3.2.27
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 191 – 232 | RING-type; atypicalPROSITE-ProRule annotationAdd BLAST | 42 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- protein dimerization activity Source: UniProtKB
- ubiquitin protein ligase activity Source: UniProtKB
- ubiquitin-protein transferase activity Source: GO_Central
GO - Biological processi
- double-strand break repair via homologous recombination Source: GO_Central
- intracellular signal transduction Source: InterPro
- positive regulation of response to DNA damage stimulus Source: UniProtKB
- postreplication repair Source: GO_Central
Keywordsi
Molecular function | Transferase |
Biological process | DNA damage, DNA recombination, DNA repair, Ubl conjugation pathway |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8WV22 |
Reactomei | R-HSA-3108214, SUMOylation of DNA damage response and repair proteins |
Names & Taxonomyi
Protein namesi | Recommended name: Non-structural maintenance of chromosomes element 1 homolog (EC:2.3.2.272 Publications)Short name: Non-SMC element 1 homolog |
Gene namesi | Name:NSMCE1Imported ORF Names:HSPC333, HSPC337 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29897, NSMCE1 |
MIMi | 617263, gene |
neXtProti | NX_Q8WV22 |
VEuPathDBi | HostDB:ENSG00000169189.16 |
Subcellular locationi
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- chromosome, telomeric region Source: UniProtKB-SubCell
- intracellular membrane-bounded organelle Source: HPA
- Smc5-Smc6 complex Source: UniProtKB
Keywords - Cellular componenti
Chromosome, Nucleus, TelomerePathology & Biotechi
Organism-specific databases
DisGeNETi | 197370 |
OpenTargetsi | ENSG00000169189 |
PharmGKBi | PA134943761 |
Miscellaneous databases
Pharosi | Q8WV22, Tdark |
Genetic variation databases
BioMutai | NSMCE1 |
DMDMi | 209572785 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000270944 | 1 – 266 | Non-structural maintenance of chromosomes element 1 homologAdd BLAST | 266 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 251 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Ubiquitinated.1 Publication
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8WV22 |
jPOSTi | Q8WV22 |
MassIVEi | Q8WV22 |
MaxQBi | Q8WV22 |
PaxDbi | Q8WV22 |
PeptideAtlasi | Q8WV22 |
PRIDEi | Q8WV22 |
ProteomicsDBi | 74738 |
PTM databases
iPTMneti | Q8WV22 |
PhosphoSitePlusi | Q8WV22 |
Expressioni
Gene expression databases
Bgeei | ENSG00000169189, Expressed in prostate gland and 220 other tissues |
ExpressionAtlasi | Q8WV22, baseline and differential |
Genevisiblei | Q8WV22, HS |
Organism-specific databases
HPAi | ENSG00000169189, Low tissue specificity |
Interactioni
Subunit structurei
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 (PubMed:18086888, PubMed:20864041).
Interacts with NSMCE3 (PubMed:27427983).
Interacts with MAGEF1 (PubMed:29225034).
4 PublicationsBinary interactionsi
Hide detailsGO - Molecular functioni
- protein dimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 128255, 37 interactors |
ComplexPortali | CPX-5992, SMC5-SMC6 SUMO ligase complex, EID3 variant CPX-6086, SMC5-SMC6 SUMO ligase complex, NSE4EA variant |
IntActi | Q8WV22, 19 interactors |
STRINGi | 9606.ENSP00000355077 |
Miscellaneous databases
RNActi | Q8WV22, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q8WV22 |
SMRi | Q8WV22 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8WV22 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 102 | Interaction with NSMCE31 PublicationAdd BLAST | 102 |
Sequence similaritiesi
Belongs to the NSE1 family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 191 – 232 | RING-type; atypicalPROSITE-ProRule annotationAdd BLAST | 42 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG4718, Eukaryota |
GeneTreei | ENSGT00390000009084 |
HOGENOMi | CLU_045153_3_1_1 |
InParanoidi | Q8WV22 |
OMAi | KVHDCNA |
OrthoDBi | 1159451at2759 |
PhylomeDBi | Q8WV22 |
TreeFami | TF314721 |
Family and domain databases
CDDi | cd16493, RING-CH-C4HC3_NSE1, 1 hit |
Gene3Di | 1.10.10.10, 1 hit 3.30.40.10, 1 hit |
InterProi | View protein in InterPro IPR011513, Nse1 IPR002219, PE/DAG-bd IPR036388, WH-like_DNA-bd_sf IPR001841, Znf_RING IPR014857, Znf_RING-like IPR013083, Znf_RING/FYVE/PHD |
PANTHERi | PTHR20973, PTHR20973, 1 hit |
Pfami | View protein in Pfam PF07574, SMC_Nse1, 1 hit PF08746, zf-RING-like, 1 hit |
PROSITEi | View protein in PROSITE PS50089, ZF_RING_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All
Q8WV22-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MQGSTRRMGV MTDVHRRFLQ LLMTHGVLEE WDVKRLQTHC YKVHDRNATV
60 70 80 90 100
DKLEDFINNI NSVLESLYIE IKRGVTEDDG RPIYALVNLA TTSISKMATD
110 120 130 140 150
FAENELDLFR KALELIIDSE TGFASSTNIL NLVDQLKGKK MRKKEAEQVL
160 170 180 190 200
QKFVQNKWLI EKEGEFTLHG RAILEMEQYI RETYPDAVKI CNICHSLLIQ
210 220 230 240 250
GQSCETCGIR MHLPCVAKYF QSNAEPRCPH CNDYWPHEIP KVFDPEKERE
260
SGVLKSNKKS LRSRQH
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BV05 | H3BV05_HUMAN | Non-structural maintenance of chrom... | NSMCE1 | 78 | Annotation score: | ||
I3L1I3 | I3L1I3_HUMAN | Non-structural maintenance of chrom... | NSMCE1 | 193 | Annotation score: | ||
H3BR73 | H3BR73_HUMAN | Non-structural maintenance of chrom... | NSMCE1 | 144 | Annotation score: | ||
H3BSL0 | H3BSL0_HUMAN | Non-structural maintenance of chrom... | NSMCE1 | 138 | Annotation score: | ||
H3BN81 | H3BN81_HUMAN | Non-structural maintenance of chrom... | NSMCE1 | 73 | Annotation score: | ||
H3BR31 | H3BR31_HUMAN | Non-structural maintenance of chrom... | NSMCE1 | 70 | Annotation score: |
Sequence cautioni
The sequence AAF29011 differs from that shown. Reason: Frameshift.Curated
The sequence AAF29015 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029822 | 38 | T → R. Corresponds to variant dbSNP:rs7195194Ensembl. | 1 | |
Natural variantiVAR_029823 | 47 | N → S1 PublicationCorresponds to variant dbSNP:rs17856580Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161451 mRNA Translation: AAF29011.1 Sequence problems. AF161455 mRNA Translation: AAF29015.1 Sequence problems. AC106739 Genomic DNA No translation available. CH471145 Genomic DNA Translation: EAW55756.1 CH471145 Genomic DNA Translation: EAW55757.1 BC018938 mRNA Translation: AAH18938.4 |
CCDSi | CCDS10628.2 |
RefSeqi | NP_659547.2, NM_145080.3 XP_006721086.1, XM_006721023.3 |
Genome annotation databases
Ensembli | ENST00000361439; ENSP00000355077; ENSG00000169189 |
GeneIDi | 197370 |
KEGGi | hsa:197370 |
UCSCi | uc002doi.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161451 mRNA Translation: AAF29011.1 Sequence problems. AF161455 mRNA Translation: AAF29015.1 Sequence problems. AC106739 Genomic DNA No translation available. CH471145 Genomic DNA Translation: EAW55756.1 CH471145 Genomic DNA Translation: EAW55757.1 BC018938 mRNA Translation: AAH18938.4 |
CCDSi | CCDS10628.2 |
RefSeqi | NP_659547.2, NM_145080.3 XP_006721086.1, XM_006721023.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CT0 | NMR | - | A | 181-241 | [»] | |
5HVQ | X-ray | 2.92 | C | 9-246 | [»] | |
5WY5 | X-ray | 2.92 | A | 9-246 | [»] | |
BMRBi | Q8WV22 | |||||
SMRi | Q8WV22 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 128255, 37 interactors |
ComplexPortali | CPX-5992, SMC5-SMC6 SUMO ligase complex, EID3 variant CPX-6086, SMC5-SMC6 SUMO ligase complex, NSE4EA variant |
IntActi | Q8WV22, 19 interactors |
STRINGi | 9606.ENSP00000355077 |
PTM databases
iPTMneti | Q8WV22 |
PhosphoSitePlusi | Q8WV22 |
Genetic variation databases
BioMutai | NSMCE1 |
DMDMi | 209572785 |
Proteomic databases
EPDi | Q8WV22 |
jPOSTi | Q8WV22 |
MassIVEi | Q8WV22 |
MaxQBi | Q8WV22 |
PaxDbi | Q8WV22 |
PeptideAtlasi | Q8WV22 |
PRIDEi | Q8WV22 |
ProteomicsDBi | 74738 |
Protocols and materials databases
Antibodypediai | 26234, 119 antibodies |
DNASUi | 197370 |
Genome annotation databases
Ensembli | ENST00000361439; ENSP00000355077; ENSG00000169189 |
GeneIDi | 197370 |
KEGGi | hsa:197370 |
UCSCi | uc002doi.2, human |
Organism-specific databases
CTDi | 197370 |
DisGeNETi | 197370 |
GeneCardsi | NSMCE1 |
HGNCi | HGNC:29897, NSMCE1 |
HPAi | ENSG00000169189, Low tissue specificity |
MIMi | 617263, gene |
neXtProti | NX_Q8WV22 |
OpenTargetsi | ENSG00000169189 |
PharmGKBi | PA134943761 |
VEuPathDBi | HostDB:ENSG00000169189.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4718, Eukaryota |
GeneTreei | ENSGT00390000009084 |
HOGENOMi | CLU_045153_3_1_1 |
InParanoidi | Q8WV22 |
OMAi | KVHDCNA |
OrthoDBi | 1159451at2759 |
PhylomeDBi | Q8WV22 |
TreeFami | TF314721 |
Enzyme and pathway databases
PathwayCommonsi | Q8WV22 |
Reactomei | R-HSA-3108214, SUMOylation of DNA damage response and repair proteins |
Miscellaneous databases
BioGRID-ORCSi | 197370, 490 hits in 1009 CRISPR screens |
ChiTaRSi | NSMCE1, human |
EvolutionaryTracei | Q8WV22 |
GenomeRNAii | 197370 |
Pharosi | Q8WV22, Tdark |
PROi | PR:Q8WV22 |
RNActi | Q8WV22, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000169189, Expressed in prostate gland and 220 other tissues |
ExpressionAtlasi | Q8WV22, baseline and differential |
Genevisiblei | Q8WV22, HS |
Family and domain databases
CDDi | cd16493, RING-CH-C4HC3_NSE1, 1 hit |
Gene3Di | 1.10.10.10, 1 hit 3.30.40.10, 1 hit |
InterProi | View protein in InterPro IPR011513, Nse1 IPR002219, PE/DAG-bd IPR036388, WH-like_DNA-bd_sf IPR001841, Znf_RING IPR014857, Znf_RING-like IPR013083, Znf_RING/FYVE/PHD |
PANTHERi | PTHR20973, PTHR20973, 1 hit |
Pfami | View protein in Pfam PF07574, SMC_Nse1, 1 hit PF08746, zf-RING-like, 1 hit |
PROSITEi | View protein in PROSITE PS50089, ZF_RING_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NSE1_HUMAN | |
Accessioni | Q8WV22Primary (citable) accession number: Q8WV22 Secondary accession number(s): D3DWF6, Q9P045, Q9P049 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 9, 2007 |
Last sequence update: | October 14, 2008 | |
Last modified: | April 7, 2021 | |
This is version 165 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families