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    NHEJ1 non-homologous end joining factor 1 [ Homo sapiens (human) ]

    Gene ID: 79840, updated on 7-May-2017
    Official Symbol
    NHEJ1provided by HGNC
    Official Full Name
    non-homologous end joining factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25737
    See related
    Ensembl:ENSG00000187736 MIM:611290; Vega:OTTHUMG00000133127
    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
    XLF
    Summary
    Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2q35
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (219075324..219160865, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219940046..220025587, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985987 Neighboring gene microRNA 3131 Neighboring gene indian hedgehog Neighboring gene RNA, 7SL, cytoplasmic 764, pseudogene Neighboring gene solute carrier family 23 member 3 Neighboring gene cyclin Pas1/PHO80 domain containing 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Non-homologous end joining, organism-specific biosystem (from WikiPathways)
      Non-homologous end joining, organism-specific biosystem(From http://en.wikipedia.org/wiki/Non-homologous_end_joining) Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA. NHEJ is referred to as "non-homologous" because...
    • Non-homologous end-joining, organism-specific biosystem (from KEGG)
      Non-homologous end-joining, organism-specific biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
    • Non-homologous end-joining, conserved biosystem (from KEGG)
      Non-homologous end-joining, conserved biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
    • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
      Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12610

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    central nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    positive regulation of ligase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    DNA ligase IV complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nonhomologous end joining complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    non-homologous end-joining factor 1
    Names
    XRCC4-like factor
    nonhomologous end-joining factor 1
    protein cernunnos

    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_007880.1 RefSeqGene

      Range
      5001..90542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_90

    mRNA and Protein(s)

    1. NM_024782.2NP_079058.1  non-homologous end-joining factor 1

      See identical proteins and their annotated locations for NP_079058.1

      Status: REVIEWED

      Source sequence(s)
      AJ972687, DB124934
      Consensus CDS
      CCDS2432.1
      UniProtKB/Swiss-Prot
      Q9H9Q4
      Related
      ENSP00000349313.5, OTTHUMP00000164168, ENST00000356853.9, OTTHUMT00000256817
      Conserved Domains (1) summary
      pfam09302
      Location:12174
      XLF; XLF-Cernunnos, XRcc4-like factor, NHEJ component

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      219075324..219160865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      219947414..220032919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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