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Protein

Non-structural maintenance of chromosomes element 1 homolog

Gene

NSMCE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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). Has in vitro ubiquitin ligase activity in presence of NSMCE3. Is involved in positive regulation of response to DNA damage stimulus.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri188 – 234NSE1-typeAdd BLAST47

GO - Molecular functioni

  • ligase activity Source: UniProtKB-KW
  • ubiquitin-protein transferase activity Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

DNA damage, DNA recombination, DNA repair

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169189-MONOMER.
ReactomeiR-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:6.3.2.-)
Short name:
Non-SMC element 1 homolog
Gene namesi
Name:NSMCE1
ORF Names:HSPC333, HSPC337
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29897. NSMCE1.

Subcellular locationi

  • Nucleus 1 Publication
  • Chromosometelomere 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000169189.
PharmGKBiPA134943761.

Polymorphism and mutation databases

BioMutaiNSMCE1.
DMDMi209572785.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002709441 – 266Non-structural maintenance of chromosomes element 1 homologAdd BLAST266

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei251PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8WV22.
MaxQBiQ8WV22.
PaxDbiQ8WV22.
PeptideAtlasiQ8WV22.
PRIDEiQ8WV22.

PTM databases

iPTMnetiQ8WV22.
PhosphoSitePlusiQ8WV22.

Expressioni

Gene expression databases

BgeeiENSG00000169189.
CleanExiHS_NSMCE1.
ExpressionAtlasiQ8WV22. baseline and differential.
GenevisibleiQ8WV22. HS.

Organism-specific databases

HPAiHPA041567.
HPA043091.

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.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NSMCE3Q96MG715EBI-2557372,EBI-2557356
SMC6Q96SB89EBI-2557372,EBI-605415

Protein-protein interaction databases

BioGridi128255. 18 interactors.
IntActiQ8WV22. 9 interactors.
MINTiMINT-4786791.
STRINGi9606.ENSP00000355077.

Structurei

Secondary structure

1266
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi13 – 24Combined sources12
Beta strandi25 – 29Combined sources5
Helixi30 – 43Combined sources14
Helixi53 – 64Combined sources12
Helixi65 – 67Combined sources3
Beta strandi69 – 75Combined sources7
Turni77 – 79Combined sources3
Beta strandi82 – 91Combined sources10
Helixi95 – 98Combined sources4
Helixi103 – 118Combined sources16
Beta strandi119 – 122Combined sources4
Helixi126 – 130Combined sources5
Helixi131 – 133Combined sources3
Beta strandi137 – 139Combined sources3
Helixi143 – 155Combined sources13
Beta strandi158 – 162Combined sources5
Beta strandi165 – 168Combined sources4
Helixi170 – 183Combined sources14
Turni185 – 187Combined sources3
Turni192 – 194Combined sources3
Beta strandi199 – 203Combined sources5
Beta strandi205 – 207Combined sources3
Helixi213 – 219Combined sources7
Turni220 – 222Combined sources3
Turni229 – 231Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CT0NMR-A181-241[»]
3NW0X-ray2.92A9-246[»]
ProteinModelPortaliQ8WV22.
SMRiQ8WV22.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WV22.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 102Interaction with NSMCE3Add BLAST102

Sequence similaritiesi

Belongs to the NSE1 family.Curated
Contains 1 NSE1-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri188 – 234NSE1-typeAdd BLAST47

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG4718. Eukaryota.
ENOG4111RNS. LUCA.
GeneTreeiENSGT00390000009084.
HOGENOMiHOG000006778.
HOVERGENiHBG082058.
InParanoidiQ8WV22.
OMAiICNICHS.
OrthoDBiEOG091G0JE5.
PhylomeDBiQ8WV22.
TreeFamiTF314721.

Family and domain databases

InterProiIPR011513. Nse1.
IPR002219. PE/DAG-bd.
IPR001841. Znf_RING.
IPR014857. Znf_RING-like.
[Graphical view]
PANTHERiPTHR20973:SF0. PTHR20973:SF0. 1 hit.
PfamiPF07574. SMC_Nse1. 1 hit.
PF08746. zf-RING-like. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8WV22-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:266
Mass (Da):30,855
Last modified:October 14, 2008 - v5
Checksum:i58A3C2AF70FC8F39
GO

Sequence cautioni

The sequence AAF29011 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAF29015 differs from that shown. Reason: Frameshift at position 147.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02982238T → R.Corresponds to variant rs7195194dbSNPEnsembl.1
Natural variantiVAR_02982347N → S.1 PublicationCorresponds to variant rs17856580dbSNPEnsembl.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.
CCDSiCCDS10628.2.
RefSeqiNP_659547.2. NM_145080.3.
XP_006721086.1. XM_006721023.3.
UniGeneiHs.284295.

Genome annotation databases

EnsembliENST00000361439; ENSP00000355077; ENSG00000169189.
GeneIDi197370.
KEGGihsa:197370.
UCSCiuc002doi.2. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS10628.2.
RefSeqiNP_659547.2. NM_145080.3.
XP_006721086.1. XM_006721023.3.
UniGeneiHs.284295.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CT0NMR-A181-241[»]
3NW0X-ray2.92A9-246[»]
ProteinModelPortaliQ8WV22.
SMRiQ8WV22.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128255. 18 interactors.
IntActiQ8WV22. 9 interactors.
MINTiMINT-4786791.
STRINGi9606.ENSP00000355077.

PTM databases

iPTMnetiQ8WV22.
PhosphoSitePlusiQ8WV22.

Polymorphism and mutation databases

BioMutaiNSMCE1.
DMDMi209572785.

Proteomic databases

EPDiQ8WV22.
MaxQBiQ8WV22.
PaxDbiQ8WV22.
PeptideAtlasiQ8WV22.
PRIDEiQ8WV22.

Protocols and materials databases

DNASUi197370.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361439; ENSP00000355077; ENSG00000169189.
GeneIDi197370.
KEGGihsa:197370.
UCSCiuc002doi.2. human.

Organism-specific databases

CTDi197370.
GeneCardsiNSMCE1.
H-InvDBHIX0012912.
HGNCiHGNC:29897. NSMCE1.
HPAiHPA041567.
HPA043091.
neXtProtiNX_Q8WV22.
OpenTargetsiENSG00000169189.
PharmGKBiPA134943761.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4718. Eukaryota.
ENOG4111RNS. LUCA.
GeneTreeiENSGT00390000009084.
HOGENOMiHOG000006778.
HOVERGENiHBG082058.
InParanoidiQ8WV22.
OMAiICNICHS.
OrthoDBiEOG091G0JE5.
PhylomeDBiQ8WV22.
TreeFamiTF314721.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169189-MONOMER.
ReactomeiR-HSA-3108214. SUMOylation of DNA damage response and repair proteins.

Miscellaneous databases

ChiTaRSiNSMCE1. human.
EvolutionaryTraceiQ8WV22.
GenomeRNAii197370.
PROiQ8WV22.

Gene expression databases

BgeeiENSG00000169189.
CleanExiHS_NSMCE1.
ExpressionAtlasiQ8WV22. baseline and differential.
GenevisibleiQ8WV22. HS.

Family and domain databases

InterProiIPR011513. Nse1.
IPR002219. PE/DAG-bd.
IPR001841. Znf_RING.
IPR014857. Znf_RING-like.
[Graphical view]
PANTHERiPTHR20973:SF0. PTHR20973:SF0. 1 hit.
PfamiPF07574. SMC_Nse1. 1 hit.
PF08746. zf-RING-like. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNSE1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 132 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.