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NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [ Homo sapiens (human) ]

Gene ID: 286053, updated on 22-Aug-2020

Summary

Official Symbol
NSMCE2provided by HGNC
Official Full Name
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligaseprovided by HGNC
Primary source
HGNC:HGNC:26513
See related
Ensembl:ENSG00000156831 MIM:617246
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NSE2; MMS21; ZMIZ7; C8orf36
Summary
This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 2.5), lymph node (RPKM 2.3) and 25 other tissues See more
Orthologs

Genomic context

See NSMCE2 in Genome Data Viewer
Location:
8q24.13
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (125091779..125367125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126104083..126379367)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375744 Neighboring gene squalene epoxidase Neighboring gene WASH complex subunit 5 Neighboring gene HNF1 motif-containing MPRA enhancer 31 Neighboring gene RNA, 7SL, cytoplasmic 329, pseudogene Neighboring gene tribbles pseudokinase 1 Neighboring gene uncharacterized LOC105375746

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Seckel syndrome 10
MedGen: C4310647 OMIM: 617253 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SUMO ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SUMO transferase activity EXP
Inferred from Experiment
more info
PubMed 
SUMO transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of maintenance of mitotic sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitotic metaphase/anaphase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein sumoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
telomere maintenance via recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
Smc5-Smc6 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Smc5-Smc6 complex IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
E3 SUMO-protein ligase NSE2
Names
E3 SUMO-protein transferase NSE2
NSMCE2/PVT1 fusion
PVT1/NSMCE2 fusion
methyl methanesulfonate sensitivity gene 21
non-SMC element 2, MMS21 homolog
non-structural maintenance of chromosomes element 2 homolog
zinc finger, MIZ-type containing 7

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053069.1 RefSeqGene

    Range
    5043..280303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349485.2NP_001336414.1  E3 SUMO-protein ligase NSE2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    AC084083, AC126366
    Consensus CDS
    CCDS6356.1
    Related
    ENSP00000430668.1, ENST00000522563.5
    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  2. NM_001349486.2NP_001336415.1  E3 SUMO-protein ligase NSE2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate slice site in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    AC084083, AC126366
    Consensus CDS
    CCDS6356.1
    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  3. NM_001349487.2NP_001336416.1  E3 SUMO-protein ligase NSE2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC126366, BM993808
    Consensus CDS
    CCDS87625.1
    Related
    ENSP00000478256.1, ENST00000520866.5
  4. NM_173685.4NP_775956.1  E3 SUMO-protein ligase NSE2 isoform 1

    See identical proteins and their annotated locations for NP_775956.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    BC032797, CB217595
    Consensus CDS
    CCDS6356.1
    UniProtKB/Swiss-Prot
    Q96MF7
    UniProtKB/TrEMBL
    A0A024R9J6
    Related
    ENSP00000287437.3, ENST00000287437.8
    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins

RNA

  1. NR_146191.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC084083, AC126366
  2. NR_146192.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks several exons, contains an exon, and its 3' terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC126366, BM993808

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    125091779..125367125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447130.1XP_024302898.1  E3 SUMO-protein ligase NSE2 isoform X2

    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  2. XM_011516975.2XP_011515277.1  E3 SUMO-protein ligase NSE2 isoform X2

    See identical proteins and their annotated locations for XP_011515277.1

    UniProtKB/Swiss-Prot
    Q96MF7
    UniProtKB/TrEMBL
    A0A024R9J6
    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  3. XM_017013331.1XP_016868820.1  E3 SUMO-protein ligase NSE2 isoform X2

    UniProtKB/Swiss-Prot
    Q96MF7
    UniProtKB/TrEMBL
    A0A024R9J6
    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  4. XM_017013333.1XP_016868822.1  E3 SUMO-protein ligase NSE2 isoform X4

    UniProtKB/TrEMBL
    E5RFJ1
    Related
    ENSP00000428846.1, ENST00000517315.1
    Conserved Domains (1) summary
    cd16651
    Location:107177
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  5. XM_011516974.2XP_011515276.1  E3 SUMO-protein ligase NSE2 isoform X2

    See identical proteins and their annotated locations for XP_011515276.1

    UniProtKB/Swiss-Prot
    Q96MF7
    UniProtKB/TrEMBL
    A0A024R9J6
    Conserved Domains (1) summary
    cd16651
    Location:167237
    SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
  6. XM_017013334.1XP_016868823.1  E3 SUMO-protein ligase NSE2 isoform X5

  7. XM_017013332.2XP_016868821.1  E3 SUMO-protein ligase NSE2 isoform X3

  8. XM_017013330.2XP_016868819.1  E3 SUMO-protein ligase NSE2 isoform X1

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