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

NHEJ1 Gene

protein-coding   GIFtS: 61
GCID: GC02M219941

Nonhomologous End-Joining Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nonhomologous End-Joining Factor 11 2
XLF2 3 5
Protein Cernunnos2 3
XRCC4-Like Factor2 3
Non-Homologous End-Joining Factor 12

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 Gene:
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)

GeneCards Summary for NHEJ1 Gene: 
NHEJ1 (nonhomologous end-joining factor 1) is a protein-coding gene. Diseases associated with NHEJ1 include severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, and t-lymphocytopenia, and among its related super-pathways are Non-homologous end joining and Cell Cycle / Checkpoint Control. GO annotations related to this gene include protein binding and DNA binding.

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) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NHEJ1 at MOPED 

Post-translational modifications:

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

  • NHEJ1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NHEJ1 Protein Expression
    REFSEQ proteins: NP_079058.1  
    ENSEMBL proteins: 
     ENSP00000387290   ENSP00000349313   ENSP00000408966   ENSP00000394896   ENSP00000407201  
     ENSP00000408421  

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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for NHEJ1
    Cloud-Clone Corp. 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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     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


    NHEJ1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 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


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

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nhej1):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  tumorigenesis 

    NHEJ1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NHEJ1: Nhej1tm1.1Ics Nhej1tm1Fwa

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NHEJ1 
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    hsa-miR-505 hsa-miR-4261 hsa-miR-2116 hsa-miR-608 hsa-miR-431 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidNHEJ1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NHEJ1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Non-homologous end-joining
    Non-homologous end-joining0.46
    Non-homologous end joining0.46
    2DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006302double-strand break repair ----
    GO:0006303double-strand break repair via nonhomologous end joining IMP16439204
    GO:0006310DNA recombination IEA--
    GO:0007417central nervous system development NAS16439204

    NHEJ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    miRNA
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    hsa-miR-505 hsa-miR-4261 hsa-miR-2116 hsa-miR-608 hsa-miR-431 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidNHEJ1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NHEJ1

    Additional mRNA 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):

    BC012732 BX280520 BX280407 CR596901 CB134508 AK055730 AI734010 CA436271 
    AW156986 AW296385 AK091919 BF591227 AI263078 AA515515 CA436268 BC008210 
    AK125121 BQ071822 BX108647 BQ007134 AA432264 BG388240 BC030986 BF125521 

    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)      NHEJ1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTACCACG
    NHEJ1 Expression
    About this image


    NHEJ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Cerebral Cortex
             ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    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
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHEJ1

    (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 5/12 species (see all 12)    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
    Uncharacterized protein
    45(a)
    1 ↔ 1
    1(88067553-88171693)
    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, 4UniProtKB, 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

    10/1733 SNPs in NHEJ1 are shown (see all 1733)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0257044
    Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)4--see VAR_0257042 R G mis40--------
    VAR_0257054
    Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)4--see VAR_0257052 C R mis40--------
    rs58387181,2
    C--211843712(+) AAAAAA/-CCTAG 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs2013977671,2
    C--211848633(+) CCCTTC/TTTTTT 1 -- int10--------
    rs775991411,2
    C--211849093(+) AGCGG-/A/TAAATA 1 -- int10--------
    rs58387191,2
    C,F--211849095(+) GCGGT-/AAATAG 1 -- int13Minor allele frequency- A:0.33NA CSA 6
    rs583013641,2
    C--211855888(+) AAAAAA/CAAAAA 1 -- int12Minor allele frequency- C:0.00WA NA 4
    rs729517931,2
    C--211855890(+) AAACAC/AAAAAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs729536051,2
    C--211860519(+) AAGAGA/GAGAGG 1 -- int10--------
    rs1407043541,2
    --219323462(+) TGGGGC/GTAAAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NHEJ1 (219940039 - 220025587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NHEJ1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721481CNV Deletion23290073
    esv2546592CNV Deletion19546169
    nsv508200CNV Loss20534489
    nsv875868CNV Gain21882294


    Human Gene Mutation Database (HGMD): NHEJ1

    Locus Specific Mutation Databases (LSDB): NHEJ1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611290   
    OMIM disorders: 611291  
    UniProtKB/Swiss-Prot: NHEJ1_HUMAN, Q9H9Q4
  • Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]: 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=The
    disease is caused by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation
    t(2;7)(q35;p22)

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

    2 diseases from the University of Copenhagen DISEASES database for NHEJ1:
    DNA ligase IV deficiency     Nijmegen breakage syndrome

    NHEJ1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NHEJ1
    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 51):
    (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. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    6. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (2010)
    7. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (2009)
    8. Novel susceptibility loci for second primary tumors/r ecurrence in head and neck cancer patients: large-scale evaluation of genetic v ariants. (PubMed id 19584075)1, 4 Wu X....Hong W.K. (2009)
    9. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (2008)
    10. Truncation of NHEJ1 in a patient with polymicrogyria. (PubMed id 17191205)1, 2 Cantagrel V.... Villard L. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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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