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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NHEJ1 Gene

protein-coding   GIFtS: 57
GCID: GC02M219941

nonhomologous end-joining factor 1

 Explore 13 diseases affiliated with
NHEJ1 via our new
 Human Malady Compendium 
Biological research products
for NHEJ1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nonhomologous End-Joining Factor 11 2     Cernunnos1
XLF1 2 3 5     FLJ126101
Protein Cernunnos2 3     Non-Homologous End-Joining Factor 12
XRCC4-Like Factor2 3     

External Ids:    HGNC: 257371   Entrez Gene: 798402   Ensembl: ENSG000001877367   OMIM: 6112905   UniProtKB: Q9H9Q43   

Export aliases for NHEJ1 gene to outside databases

Previous GC identifers: GC02M219648 GC02M211793


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NHEJ1:
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)

UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4
Function: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB)
repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or
may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act
in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched
ends that are noncomplementary or partially complementary

Gene Wiki entry for NHEJ1 (XLF)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NHEJ1 gene promoter:
         AhR   E47   Egr-4   YY1   AREB6   POU2F1   POU2F1a   FOXO1a   NF-kappaB1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNHEJ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NHEJ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NHEJ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

NHEJ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NHEJ1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M219941:  view genomic region     (about GC identifiers)

Start:
219,940,039 bp from pter      End:
220,025,587 bp from pter
Size:
85,549 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4 (See protein sequence)
Recommended Name: Non-homologous end-joining factor 1  
Size: 299 amino acids; 33337 Da
Subunit: Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner
Subcellular location: Nucleus
Miscellaneous: Was named 'Cernunnos' after the enigmatic Celtic god of hunting, the underworld and fertility
6 PDB 3D structures from and Proteopedia for NHEJ1:
2QM4 (3D)        2R9A (3D)        3Q4F (3D)        3RWR (3D)        3SR2 (3D)        3W03 (3D)    
Secondary accessions: B8ZZA4 Q4ZFW7 Q6IA64 Q96JS9
Alternative splicing: 2 isoforms:  Q9H9Q4-1   Q9H9Q4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NHEJ1: NX_Q9H9Q4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H9Q4

  • NHEJ1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079058.1  
    ENSEMBL proteins: 
     ENSP00000387290   ENSP00000349313   ENSP00000408966   ENSP00000394896   ENSP00000407201  
     ENSP00000408421  

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    Uscn Proteins for NHEJ1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16439204
    GO:0070419nonhomologous end joining complex IDA--


    NHEJ1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NHEJ1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015381 XLF/Cernunnos
     IPR009089 XRCC4_N

    Graphical View of Domain Structure for InterPro Entry Q9H9Q4

    ProtoNet protein and cluster: Q9H9Q4

    UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4
    Similarity: Belongs to the XLF family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4
    Function: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB)
    repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or
    may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act
    in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched
    ends that are noncomplementary or partially complementary

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI16439205


    NHEJ1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NHEJ1:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Nhej1tm1Fwa for NHEJ1
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nhej1):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  tumorigenesis 

    NHEJ1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Non-homologous end-joining
    Non-homologous end-joining1.00
    Non-homologous end joining0.43
    2DNA Damage
    DNA Damage1.00
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for NHEJ1
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 BioSystems Pathway for NHEJ1 
        Non-homologous end joining


    1         Kegg Pathway  (Kegg details for NHEJ1):
        Non-homologous end-joining


    NHEJ1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NHEJ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for NHEJ1 (Q9H9Q41, 2, 3 ENSP000003493134) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H2AFXP161042, 3, ENSP000003643104MINT-6175901 I2D: score=1 STRING: ENSP00000364310
    XRCC4Q134261, 2, 3, ENSP000003420114EBI-847807,EBI-717592 MINT-6175948 MINT-8094510 MINT-6175964 I2D: score=3 STRING: ENSP00000342011
    LIG4P499171, 3, ENSP000003493934EBI-847807,EBI-847896 I2D: score=3 STRING: ENSP00000349393
    XRCC5P130102MINT-6175948 MINT-8094510 MINT-6175964
    DCLRE1CENSP000003675274STRING: ENSP00000367527
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair ----
    GO:0006303double-strand break repair via nonhomologous end joining IMP16439205
    GO:0006310DNA recombination IEA--
    GO:0007417central nervous system development NAS16439204
    GO:0010212response to ionizing radiation IDA16439205


    NHEJ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NHEJ1
    Search CenterWatch for drugs/clinical trials and news about NHEJ1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NHEJ1 gene: 
    NM_024782.2  

    Unigene Cluster for NHEJ1:

    Nonhomologous end-joining factor 1
    Hs.225988  [show with all ESTs]
    Unigene Representative Sequence: NM_024782
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409720 ENST00000356853(uc002vjp.4) ENST00000418099 ENST00000494211
    ENST00000426304 ENST00000491159 ENST00000483627 ENST00000457600 ENST00000450447
    ENST00000481764

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    Additional cDNA sequence: 

    AJ972687.1 AK022672.1 BC008210.2 BC012732.2 BC030986.1 CR457291.1 

    6 DOTS entries:

    DT.109237  DT.120995373  DT.101983042  DT.100755275  DT.100755274  DT.91967038 

    24/81 AceView cDNA sequences (see all 81):

    BF591227 BX280520 AA515515 AI263078 AI734010 AK055730 BC008210 AK125121 
    AW296385 CR596901 BX280407 CB134508 AW156986 AK091919 BQ071822 BC012732 
    CA436268 CA436271 AA758027 BX506147 BX401823 AW167520 AW079355 CR457291 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for NHEJ1 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^
    SP1:                                                                    -           -     -     -     -     -     -                                             
    SP2:                                                  -                 -                                                                       -     -         
    SP3:                                                                    -           -                 -     -     -     -           -                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c · 24d · 24e · 24f
    SP1:              -     -     -     -     -     -                             -     -                 -                                             
    SP2:              -     -     -     -     -     -                             -     -     -           -                                             
    SP3:                                                                                                                                                
    SP4:                                      -     -                             -     -     -           -                                             
    SP5:                                      -     -                             -     -                                                               


    ECgene alternative splicing isoforms for NHEJ1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NHEJ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCTACCACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NHEJ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NHEJ1

    SOURCE GeneReport for Unigene cluster: Hs.225988

    UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NHEJ1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nhej11 , 5 nonhomologous end-joining factor 11, 5 81.13(n)1
    74.92(a)1
      1 (38.56 cM)5
    755701  NM_029342.41  NP_083618.31 
     749671395 
    chicken
    (Gallus gallus)
    Aves NHEJ11 nonhomologous end-joining factor 1 54.3(n)
    50.17(a)
      424205  XM_422052.3  XP_422052.1 
    lizard
    (Anolis carolinensis)
    Reptilia NHEJ16
    --
    55(a)
    1 ↔ 1
    1(88163716-88171683)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.23432 Xenopus laevis transcribed sequence with weak similarity more 79.36(n)    AW638661.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nhej11 nonhomologous end-joining factor 1 47.73(n)
    38.78(a)
      406593  NM_214749.1  NP_999914.1 


    ENSEMBL Gene Tree for NHEJ1 (if available)
    TreeFam Gene Tree for NHEJ1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1444 NCBI SNPs in NHEJ1 are shown (see all 1444    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs785867271,2
    C,--211794543(+) GCAGGC/GACTGT 1 -- ut310--------
    rs1147974221,2
    C,F,--211794622(+) AGACGC/TTAGGG 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs790180481,2
    C,F,--211794794(+) TCCCTG/ATGGGC 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs64361071,2
    C,F,A,--211794878(+) TGCCAT/CGTAAG 1 -- ut31 ese31Minor allele frequency- C:0.02WA 118
    rs3954361,2
    H--211794975(+) GGCTTC/TTTCCT 2 K syn1 trp35Minor allele frequency- T:0.00MN NS EA 596
    rs4286211,2
    C--211795005(+) GGTCTC/TTGCAG 2 Q syn1 ese31Minor allele frequency- T:0.00MN 184
    rs4155071,2
    H--211795072(+) GTTCCA/CCTGAA 1 -- int15Minor allele frequency- C:0.00NS EA NA 410
    rs1817031,2
    H--211795095(+) ACTTTC/TTTCCT 1 -- int1 trp35Minor allele frequency- T:0.00NS EA NA 398
    rs739910151,2
    C,--211795125(+) ATGAGG/ACCTTT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs770011641,2
    C,--211795365(+) CTTGGC/TCTCCC 1 -- int12Minor allele frequency- T:0.07WA 120

    HapMap Linkage Disequilibrium report for NHEJ1 (219940039 - 220025587 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NHEJ1
         1 CNV: 98139
    Human Gene Mutation Database (HGMD): NHEJ1

    Locus Specific Mutation Databases (LSDB): NHEJ1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NHEJ1
    DNA2.0 Custom Variant and Variant Library Synthesis for NHEJ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NHEJ1 for disorders           About GeneDecksing

    OMIM gene information: 611290   
    OMIM disorders: 611291  
    UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4
  • Defects in NHEJ1 are the cause of severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)
  • [MIM:611291]; also known as autosomal recessive T-cell-negative, B-cell-negative, NK cell-positive, severe combined
    immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation or NHEJ1 syndrome. SCID
    refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of
    both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in
    infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of
    SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is
    characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing
    radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation
    without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations
  • Note=A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation
  • t(2;7)(q35;p22)

    13 diseases for NHEJ1:    About MalaCards
    severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation    severe combined immunodeficiency    combined immunodeficiency    dna ligase iv deficiency
    immunodeficiency    nijmegen breakage syndrome    microcephaly    t-lymphocytopenia
    polymicrogyria    lymphopenia    leukopenia    multiple sclerosis
    meningioma

    2 diseases from the University of Copenhagen DISEASES database for NHEJ1:
    DNA ligase IV deficiency     Nijmegen breakage syndrome
    Human Genome Epidemiology (HuGE) Navigator: NHEJ1 (4 documents)

    Export disorders for NHEJ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NHEJ1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with NHEJ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. (PubMed id 16439205)1, 2, 3, 9 Ahnesorg P....Jackson S.P. (2006)
    2. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. (PubMed id 16439204)1, 2, 3 Buck D.... Revy P. (2006)
    3. Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity. (PubMed id 17317666)1, 2, 9 Lu H....Lieber M.R. (2007)
    4. Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends. (PubMed id 17470781)1, 2, 9 Tsai C.J....Chu G. (2007)
    5. Truncation of NHEJ1 in a patient with polymicrogyria. (PubMed id 17191205)1, 2 Cantagrel V.... Villard L. (2007)
    6. Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. (PubMed id 16571728)1, 2 Callebaut I....de Villartay J.P. (2006)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Nonhomologous end joining and V(D)J recombination require an additional factor. (PubMed id 12604777)1, 2 Dai Y.... Jeggo P.A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79840 HGNC: 25737 AceView: FLJ12610andSLC23A3 Ensembl:ENSG00000187736 euGenes: HUgn79840
    ECgene: NHEJ1 Kegg: 79840 H-InvDB: NHEJ1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NHEJ1 Pharmacogenomics, SNPs, Pathways
    NHEJ1basehttp://bioinf.uta.fi/NHEJ1base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NHEJ1 gene:
    Search GeneIP for patents involving NHEJ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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