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

    Gene ID: 197370, updated on 27-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
    • 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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