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NSMCE1 NSE1 homolog, SMC5-SMC6 complex component [ Homo sapiens (human) ]

Gene ID: 197370, updated on 12-Nov-2024

Summary

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Official Symbol
NSMCE1provided by HGNC
Official Full Name
NSE1 homolog, SMC5-SMC6 complex componentprovided by HGNC
Primary source
HGNC:HGNC:29897
See related
Ensembl:ENSG00000169189 MIM:617263; AllianceGenome:HGNC:29897
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NSE1
Summary
Enables protein dimerization activity and ubiquitin protein ligase activity. Involved in DNA damage response. Located in nucleoplasm. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 20.3), prostate (RPKM 15.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See NSMCE1 in Genome Data Viewer
Location:
16p12.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (27224994..27268772, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (27503609..27547403, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27236315..27280093, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27228002-27228794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27233716-27234401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10612 Neighboring gene lysine demethylase 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27247181-27247705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10614 Neighboring gene Sharpr-MPRA regulatory region 5139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27270255-27270754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7299 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:27282975-27283523 Neighboring gene NSMCE1 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:27324508-27325238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7303 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27335787-27336641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:27338789-27339453 Neighboring gene interleukin 4 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27374892-27375392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27375393-27375893 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27376379-27377578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10617 Neighboring gene MPRA-validated peak2541 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10618 Neighboring gene Sharpr-MPRA regulatory region 7417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27413572-27414114 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:27416784-27417372 and GRCh37_chr16:27417373-27417961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10624 Neighboring gene MPRA-validated peak2542 silencer Neighboring gene interleukin 21 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27449769-27450714 Neighboring gene uncharacterized LOC124903668

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression. Lorite NP, et al. Cell Mol Life Sci, 2024 Jun 7. PMID 38847937, Free PMC Article
  2. Coordination of DNA damage responses via the Smc5/Smc6 complex. Harvey SH, et al. Mol Cell Biol, 2004 Jan. PMID 14701739, Free PMC Article
  3. Structures of Two Melanoma-Associated Antigens Suggest Allosteric Regulation of Effector Binding. Newman JA, et al. PLoS One, 2016. PMID 26910052, Free PMC Article
  4. Identification of a novel non-structural maintenance of chromosomes (SMC) component of the SMC5-SMC6 complex involved in DNA repair. Fujioka Y, et al. J Biol Chem, 2002 Jun 14. PMID 11927594
  5. Mining and characterization of ubiquitin E3 ligases expressed in the mouse testis. Hou X, et al. BMC Genomics, 2012 Sep 19. PMID 22992278, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression.
    Title: Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression.
  2. Molecular Insights into the Architecture of the Human SMC5/6 Complex.
    Title: Molecular Insights into the Architecture of the Human SMC5/6 Complex.
  3. Nse1 RING-like motif is a protein-protein interaction domain required for Smc5-Smc6 holocomplex integrity and recruitment to, or retention at, DNA lesions
    Title: Nse1 RING-like domain supports functions of the Smc5-Smc6 holocomplex in genome stability.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromatin looping NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein sumoylation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of telomere maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of Smc5-Smc6 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Smc5-Smc6 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Smc5-Smc6 complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
  
located_in chromosome, telomeric region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in mitotic spindle pole IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
non-structural maintenance of chromosomes element 1 homolog
Names
non-SMC element 1 homolog
NP_659547.2
XP_006721086.1
XP_047289728.1
XP_047289729.1
XP_054235780.1
XP_054235781.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_145080.4 → NP_659547.2  non-structural maintenance of chromosomes element 1 homolog

    See identical proteins and their annotated locations for NP_659547.2

    Status: VALIDATED

    Source sequence(s)
    BU685363, DB463393
    Consensus CDS
    CCDS10628.2
    UniProtKB/Swiss-Prot
    D3DWF6, Q8WV22, Q9P045, Q9P049
    UniProtKB/TrEMBL
    B2RDU2
    Related
    ENSP00000355077.4, ENST00000361439.9
    Conserved Domains (2) summary
    pfam07574
    Location:16 → 175
    SMC_Nse1; Nse1 non-SMC component of SMC5-6 complex
    pfam08746
    Location:191 → 231
    zf-RING-like; RING-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    27224994..27268772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721023.5 → XP_006721086.1  non-structural maintenance of chromosomes element 1 homolog isoform X1

    See identical proteins and their annotated locations for XP_006721086.1

    UniProtKB/Swiss-Prot
    D3DWF6, Q8WV22, Q9P045, Q9P049
    UniProtKB/TrEMBL
    B2RDU2
    Conserved Domains (2) summary
    pfam07574
    Location:16 → 175
    SMC_Nse1; Nse1 non-SMC component of SMC5-6 complex
    pfam08746
    Location:191 → 231
    zf-RING-like; RING-like domain

  2. XM_047433772.1 → XP_047289728.1  non-structural maintenance of chromosomes element 1 homolog isoform X2

  3. XM_047433773.1 → XP_047289729.1  non-structural maintenance of chromosomes element 1 homolog isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    27503609..27547403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379805.1 → XP_054235780.1  non-structural maintenance of chromosomes element 1 homolog isoform X1

    UniProtKB/Swiss-Prot
    D3DWF6, Q8WV22, Q9P045, Q9P049

  2. XM_054379806.1 → XP_054235781.1  non-structural maintenance of chromosomes element 1 homolog isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WV22.5 GenPept UniProtKB/Swiss-Prot:Q8WV22

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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