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    NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component [ Homo sapiens (human) ]

    Gene ID: 54780, updated on 5-Mar-2024

    Summary

    Official Symbol
    NSMCE4Aprovided by HGNC
    Official Full Name
    NSE4 homolog A, SMC5-SMC6 complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:25935
    See related
    Ensembl:ENSG00000107672 MIM:612987; AllianceGenome:HGNC:25935
    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
    NS4EA; NSE4A; C10orf86
    Summary
    Involved in positive regulation of response to DNA damage stimulus. Located in nuclear body. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 10.0), fat (RPKM 9.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10q26.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (121957091..121975217, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (122853434..122871558, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (123716606..123734732, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:123492224-123492816 Neighboring gene ribosomal protein S15a pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4140 Neighboring gene arginyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4141 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123687446-123688312 Neighboring gene Sharpr-MPRA regulatory region 2750 Neighboring gene ATE1 antisense RNA 1 Neighboring gene uncharacterized LOC124902517 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:123734371-123735166 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:123778189-123779388 Neighboring gene transforming acidic coiled-coil containing protein 2 Neighboring gene Sharpr-MPRA regulatory region 10515 Neighboring gene Sharpr-MPRA regulatory regions 8460 and 2354 Neighboring gene MPRA-validated peak1120 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123836619-123837120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123844981-123845482 Neighboring gene Sharpr-MPRA regulatory regions 1076 and 11287 Neighboring gene uncharacterized LOC124902518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123914119-123915090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123931653-123932226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123933375-123933946 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123938237-123938774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123939851-123940388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123952053-123952808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123955355-123956017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123959504-123960449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123960450-123961394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123992934-123993434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124005137-124006083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124027705-124028206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124050601-124051101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124053014-124054004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4142 Neighboring gene BTB domain containing 16

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20003

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin looping NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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, telomeric region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    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

    Preferred Names
    non-structural maintenance of chromosomes element 4 homolog A
    Names
    NSE4 homolog, SMC5-SMC6 complex component A
    non-SMC element 4 homolog A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001167865.2NP_001161337.1  non-structural maintenance of chromosomes element 4 homolog A isoform 2

      See identical proteins and their annotated locations for NP_001161337.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL731566, BC062427
      UniProtKB/Swiss-Prot
      Q9NXX6
      Conserved Domains (2) summary
      pfam08743
      Location:286373
      Nse4_C; Nse4 C-terminal
      pfam15412
      Location:133185
      Nse4-Nse3_bdg; Binding domain of Nse4/EID3 to Nse3-MAGE
    2. NM_001411073.1NP_001398002.1  non-structural maintenance of chromosomes element 4 homolog A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL731566
      Consensus CDS
      CCDS91366.1
      Related
      ENSP00000358013.5, ENST00000369017.5
    3. NM_017615.3NP_060085.2  non-structural maintenance of chromosomes element 4 homolog A isoform 1

      See identical proteins and their annotated locations for NP_060085.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK000010, AL731566, DA567626
      Consensus CDS
      CCDS7624.1
      UniProtKB/Swiss-Prot
      Q5SQQ5, Q6P673, Q8WY66, Q9BS90, Q9NXX6
      Related
      ENSP00000358019.3, ENST00000369023.8
      Conserved Domains (2) summary
      pfam08743
      Location:286374
      Nse4_C; Nse4 C-terminal
      pfam15412
      Location:133185
      Nse4-Nse3_bdg; Binding domain of Nse4/EID3 to Nse3-MAGE

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      121957091..121975217 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539910.3XP_011538212.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

      See identical proteins and their annotated locations for XP_011538212.1

      Conserved Domains (1) summary
      pfam08743
      Location:127215
      Nse4_C; Nse4 C-terminal
    2. XM_005269930.5XP_005269987.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

      See identical proteins and their annotated locations for XP_005269987.1

      Conserved Domains (1) summary
      pfam08743
      Location:127215
      Nse4_C; Nse4 C-terminal
    3. XM_005269929.5XP_005269986.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

      See identical proteins and their annotated locations for XP_005269986.1

      Conserved Domains (1) summary
      pfam08743
      Location:127215
      Nse4_C; Nse4 C-terminal
    4. XM_017016359.2XP_016871848.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

      Conserved Domains (1) summary
      pfam08743
      Location:127215
      Nse4_C; Nse4 C-terminal
    5. XM_047425399.1XP_047281355.1  non-structural maintenance of chromosomes element 4 homolog A isoform X1

    RNA

    1. XR_428706.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      122853434..122871558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366162.1XP_054222137.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

    2. XM_054366163.1XP_054222138.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

    3. XM_054366164.1XP_054222139.1  non-structural maintenance of chromosomes element 4 homolog A isoform X2

    4. XM_054366161.1XP_054222136.1  non-structural maintenance of chromosomes element 4 homolog A isoform X1

    RNA

    1. XR_008488225.1 RNA Sequence