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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046704
UUCD1 version UUC-HoS-00313
Ensembl Protein ID ENSP00000287437.3
UniProt Accession Q96MF7; Q8N549; NSE2_HUMAN
Genbank Protein ID BAB71338.1; AAH32797.1
Protein Name E3 SUMO-protein ligase NSE2; MMS21 homolog; Non-structural maintenance of chromosomes element 2 homolog
Genbank Nucleotide ID AK057002; BC032797
Gene Name NSMCE2; C8orf36; MMS21
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000156831.7 ENST00000519010.5 ENSP00000481615.1
ENSG00000156831.7 ENST00000287437.7 ENSP00000287437.3
ENSG00000156831.7 ENST00000518146.5 ENSP00000430313.1
ENSG00000156831.7 ENST00000519712.1 ENSP00000429014.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbcircBasecircRNADbCircNet
miRTarBasemicroRNATRANSFACTargetScan
RepTarmiRNAMapSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDPINAHINTMentha
InWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRIDmUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/RING RING 16055714; 19793919
Classification
Family E-value Score Start End
E3 activity/RING/U-box 5.70e-09 37.6 166 240
E3 activity/RING/RING 0.00012 24.2 169 211
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/U-box

   S: 5    eflCpIslelMrdPvvlp.sGitydrssIekwlasggk.....tcPv...trqplteedlvPnltlrrliqawce 70
    f CpI++e M+ Pv + +G+ty+ +I + ++s +k cP ++ ++++dl+ +lrr i+++ +
   Q: 166 NFTCPITKEEMKKPVKNKvCGHTYEEDAIVRMIESRQKrkkkaYCPQigcSHTDIRKSDLIQDEALRRAIENHNK 240
    79*******************************777777788988861115566699*************98765 PP
   


   E3 activity/RING/RING

   S: 1    CaiCledfkdgplvlpCgHvfhadClqkwpglknssskefrCP 43
    C+i +e++k++++ CgH++ +d + ++ + ++ +k+++CP
   Q: 169 CPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQKRKKKAYCP 211
    **********555555**********888899999******** PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. 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). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. 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. Required for sister chromatid cohesion during prometaphase and mitotic progression.
E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. 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). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. 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. Required for sister chromatid cohesion during prometaphase and mitotic progression.
Protein Sequence
(Fasta)
MPGRSSSNSG STGFISFSGV ESALSSLKNF QACINSGMDT ASSVALDLVE SQTEVSSEYS 60
MDKAMVEFAT LDRQLNHYVK AVQSTINHVK EERPEKIPDL KLLVEKKFLA LQSKNSDADF 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046704|E3,RING;E3,U-box|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AGTTTCCACC CCTCCCTCAA GGCGGCGGTC CTCTTCTATC CGCAGTCCCG GACCTGGAGC 60
GGGTCAGACC CCGACTTCCG CCCCTGACTC CCCAGGCGGT CACATGACCG AAGCGGCTGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046704|E3,RING;E3,U-box|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0007--Acetylation
KW-0131--Cell cycle
KW-0132--Cell division
KW-0158--Chromosome
KW-0181--Complete proteome
KW-0227--DNA damage
KW-0233--DNA recombination
KW-0234--DNA repair
KW-0242--Dwarfism
KW-0436--Ligase
KW-0991--Mental retardation
KW-0479--Metal-binding
KW-0498--Mitosis
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0779--Telomere
KW-0832--Ubl conjugation
KW-0833--Ubl conjugation pathway
KW-0862--Zinc
KW-0863--Zinc-finger

Interpro

IPR026846--Nse2(Mms21)
IPR004181--Znf_MIZ
IPR013083--Znf_RING/FYVE/PHD

PROSITE

PS51044--ZF_SP_RING

Pfam

PF11789--zf-Nse

Gene Ontology

GO:0000781--C:chromosome, telomeric region
GO:0016604--C:nuclear body
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0016605--C:PML body
GO:0030915--C:Smc5-Smc6 complex
GO:0016874--F:ligase activity
GO:0019789--F:SUMO transferase activity
GO:0008270--F:zinc ion binding
GO:0051301--P:cell division
GO:0090398--P:cellular senescence
GO:0000724--P:double-strand break repair via homologous recombination
GO:0007067--P:mitotic nuclear division
GO:0034184--P:positive regulation of maintenance of mitotic sister chromatid cohesion
GO:0045842--P:positive regulation of mitotic metaphase/anaphase transition
GO:0000722--P:telomere maintenance via recombination

KEGG hsa:286053
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001627 Ailuropoda melanoleuca 85.83 7.00e-104 369.00
IUUC-Atr-002438 Amborella trichopoda 32.67 5.00e-07 48.10
IUUC-Apl-004091 Anas platyrhynchos 64.52 4.00e-30 122.00
IUUC-Aca-004433 Anolis carolinensis 48.93 9.00e-67 246.00
IUUC-Aly-006133 Arabidopsis lyrata 26.92 5.00e-09 54.70
IUUC-Ath-007424 Arabidopsis thaliana 28.02 5.00e-11 61.20
IUUC-Ago-007852 Ashbya gossypii 29.73 3.00e-07 48.50
IUUC-Acl-008011 Aspergillus clavatus 32.56 1.40e-02 34.70
IUUC-Afu-008893 Aspergillus fumigatus 30.23 7.00e-03 35.40
IUUC-Ani-009414 Aspergillus nidulans 29.55 3.00e-03 36.60
IUUC-Ang-009587 Aspergillus niger 25.81 7.00e-03 35.80
IUUC-Ate-010326 Aspergillus terreus 32.56 3.90e-02 34.30
IUUC-Ame-010902 Astyanax mexicanus 42.36 1.00e-45 176.00
IUUC-Bgr-012088 Blumeria graminis 26.88 1.00e-06 47.40
IUUC-Bta-013397 Bos taurus 86.63 2.00e-69 254.00
IUUC-Bci-013738 Botrytis cinerea 26.88 7.00e-06 45.40
IUUC-Cja-019246 Callithrix jacchus 91.67 1.00e-111 395.00
IUUC-Cpo-021670 Cavia porcellus 86.03 2.00e-98 352.00
IUUC-Csa-023982 Chlorocebus sabaeus 90.79 7.00e-109 386.00
IUUC-Cin-025127 Ciona intestinalis 24.77 3.00e-16 78.60
IUUC-Cgl-026430 Colletotrichum gloeosporioides 33.90 1.00e-07 50.80
IUUC-Cne-026806 Cryptococcus neoformans 39.02 3.00e-09 55.80
IUUC-Cme-027175 Cyanidioschyzon merolae 29.31 2.00e-04 40.00
IUUC-Dre-028325 Danio rerio 35.05 2.00e-32 132.00
IUUC-Dno-029735 Dasypus novemcinctus 87.04 4.00e-118 417.00
IUUC-Dor-030454 Dipodomys ordii 73.25 8.00e-77 280.00
IUUC-Dme-031971 Drosophila melanogaster 29.51 1.00e-11 63.50
IUUC-Ete-032838 Echinops telfairi 62.58 1.00e-50 191.00
IUUC-Eca-034371 Equus caballus 86.23 3.00e-116 410.00
IUUC-Eeu-035258 Erinaceus europaeus 86.02 6.00e-82 296.00
IUUC-Fca-035576 Felis catus 86.64 5.00e-104 370.00
IUUC-Fal-037038 Ficedula albicollis 55.95 3.00e-74 271.00
IUUC-Fox-037843 Fusarium oxysporum 32.93 5.00e-08 52.40
IUUC-Fso-038272 Fusarium solani 31.87 5.00e-08 52.40
IUUC-Ggr-040059 Gaeumannomyces graminis 28.57 4.00e-06 46.20
IUUC-Gga-040737 Gallus gallus 44.40 3.00e-57 215.00
IUUC-Gac-042591 Gasterosteus aculeatus 44.64 2.00e-46 179.00
IUUC-Gma-043177 Glycine max 26.34 9.00e-09 54.30
IUUC-Ggo-045206 Gorilla gorilla 99.56 9.00e-123 432.00
IUUC-Hvu-047252 Hordeum vulgare 26.39 1.00e-05 43.50
IUUC-Itr-048972 Ictidomys tridecemlineatus 86.05 3.00e-46 176.00
IUUC-Kpa-049181 Komagataella pastoris 29.36 3.00e-12 65.50
IUUC-Lpe-051150 Leersia perrieri 32.18 5.00e-06 45.10
IUUC-Loc-052687 Lepisosteus oculatus 41.67 4.00e-42 164.00
IUUC-Lma-053255 Leptosphaeria maculans 29.63 6.00e-07 49.30
IUUC-Laf-054270 Loxodonta africana 83.40 3.00e-116 410.00
IUUC-Mcc-054757 Macaca mulatta 89.30 2.00e-85 307.00
IUUC-Mor-057028 Magnaporthe oryzae 22.76 1.00e-05 44.70
IUUC-Mpo-057462 Magnaporthe poae 28.57 4.00e-07 49.30
IUUC-Mtr-058011 Medicago truncatula 27.42 1.00e-10 60.50
IUUC-Mga-059215 Meleagris gallopavo 65.48 3.00e-32 129.00
IUUC-Mvi-060511 Microbotryum violaceum 29.87 1.00e-05 44.70
IUUC-Mmr-061584 Microcebus murinus 89.07 1.00e-112 399.00
IUUC-Mdo-061863 Monodelphis domestica 53.19 2.00e-70 258.00
IUUC-Mmu-064413 Mus musculus 84.21 3.00e-112 397.00
IUUC-Mpu-066092 Mustela putorius furo 73.45 2.00e-101 362.00
IUUC-Mlu-068198 Myotis lucifugus 88.52 5.00e-117 413.00
IUUC-Ncr-068773 Neurospora crassa 32.18 1.00e-06 47.40
IUUC-Nle-070109 Nomascus leucogenys 96.93 3.00e-119 420.00
IUUC-Opr-070540 Ochotona princeps 62.30 1.00e-65 243.00
IUUC-Ont-071575 Oreochromis niloticus 41.48 3.00e-44 171.00
IUUC-Oan-072777 Ornithorhynchus anatinus 66.67 4.00e-20 89.00
IUUC-Ocu-074730 Oryctolagus cuniculus 89.78 2.00e-108 384.00
IUUC-Obr-076506 Oryza brachyantha 27.78 9.00e-07 47.00
IUUC-Olu-087903 Ostreococcus lucimarinus 39.71 3.00e-05 42.40
IUUC-Oga-087925 Otolemur garnettii 90.35 9.00e-105 372.00
IUUC-Oar-090138 Ovis aries 72.10 1.00e-96 345.00
IUUC-Ptr-091582 Pan troglodytes 100.00 1.00e-123 435.00
IUUC-Pan-092890 Papio anubis 90.79 1.00e-108 385.00
IUUC-Psi-093714 Pelodiscus sinensis 56.61 4.00e-77 281.00
IUUC-Pma-094198 Petromyzon marinus 33.33 4.00e-22 97.10
IUUC-Pno-094931 Phaeosphaeria nodorum 32.93 4.00e-05 43.10
IUUC-Pab-098005 Pongo abelii 98.68 7.00e-123 432.00
IUUC-Pop-099559 Populus trichocarpa 25.13 6.00e-09 54.70
IUUC-Pca-100368 Procavia capensis 66.67 2.00e-64 238.00
IUUC-Ppe-101873 Prunus persica 25.27 3.00e-09 55.50
IUUC-Pva-102951 Pteropus vampyrus 87.85 4.00e-110 390.00
IUUC-Pte-104390 Pyrenophora teres 40.00 5.00e-07 48.90
IUUC-Pyt-104633 Pyrenophora triticirepentis 40.00 1.00e-06 47.80
IUUC-Rno-105346 Rattus norvegicus 84.62 9.00e-119 419.00
IUUC-Sce-106198 Saccharomyces cerevisiae 24.68 9.00e-05 40.80
IUUC-Sha-107586 Sarcophilus harrisii 64.34 6.00e-41 159.00
IUUC-Sja-107983 Schizosaccharomyces japonicus 33.33 2.00e-11 62.40
IUUC-Spo-108327 Schizosaccharomyces pombe 29.21 7.00e-07 47.80
IUUC-Ssl-108555 Sclerotinia sclerotiorum 25.27 2.00e-04 40.80
IUUC-Smo-109219 Selaginella moellendorffii 36.00 2.00e-05 45.10
IUUC-Sar-113609 Sorex araneus 85.90 2.00e-100 358.00
IUUC-Sbi-113916 Sorghum bicolor 30.56 4.00e-09 55.10
IUUC-Sre-115187 Sporisorium reilianum 35.94 9.00e-06 44.30
IUUC-Tgu-116472 Taeniopygia guttata 54.63 7.00e-72 263.00
IUUC-Tru-117771 Takifugu rubripes 40.42 3.00e-41 161.00
IUUC-Tni-119821 Tetraodon nigroviridis 38.30 3.00e-44 171.00
IUUC-Tca-121272 Theobroma cacao 27.59 3.00e-07 48.90
IUUC-Tre-122049 Trichoderma reesei 34.15 2.00e-09 56.60
IUUC-Tvi-122642 Trichoderma virens 31.71 4.00e-08 52.40
IUUC-Tur-126346 Triticum urartu 29.75 4.00e-06 44.70
IUUC-Tme-126988 Tuber melanosporum 30.00 9.00e-08 51.20
IUUC-Tbe-127676 Tupaia belangeri 91.37 1.00e-93 335.00
IUUC-Ttr-128602 Tursiops truncatus 86.78 6.00e-105 373.00
IUUC-Vpa-130510 Vicugna pacos 88.26 2.00e-107 382.00
IUUC-Vvi-131486 Vitis vinifera 28.90 3.00e-10 58.90
Created Date 25-Jun-2017

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