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Aliases for NHEJ1 Gene

Aliases for NHEJ1 Gene

  • Nonhomologous End-Joining Factor 1 2 3
  • XLF 3 4 6
  • Protein Cernunnos 3 4
  • XRCC4-Like Factor 3 4
  • Non-Homologous End-Joining Factor 1 3

External Ids for NHEJ1 Gene

Summaries for NHEJ1 Gene

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 cernunnos-xlf deficiency. Among its related pathways are Cell Cycle / Checkpoint Control and Cell Cycle / Checkpoint Control.

UniProtKB/Swiss-Prot for NHEJ1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NHEJ1 Gene

Genomics for NHEJ1 Gene

Genomic Location for NHEJ1 Gene

Start:
219,075,317 bp from pter
End:
219,160,865 bp from pter
Size:
85,549 bases
Orientation:
Minus strand

Genomic View for NHEJ1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NHEJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHEJ1 Gene

Regulatory Elements for NHEJ1 Gene

Proteins for NHEJ1 Gene

  • Protein details for NHEJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9Q4-NHEJ1_HUMAN
    Recommended name:
    Non-homologous end-joining factor 1
    Protein Accession:
    Q9H9Q4
    Secondary Accessions:
    • B8ZZA4
    • Q4ZFW7
    • Q6IA64
    • Q96JS9

    Protein attributes for NHEJ1 Gene

    Size:
    299 amino acids
    Molecular mass:
    33337 Da
    Quaternary structure:
    • Exists mainly as a homodimer. Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner.
    Miscellaneous:
    • Was named Cernunnos after the enigmatic Celtic god of hunting, the underworld and fertility

    Three dimensional structures from OCA and Proteopedia for NHEJ1 Gene

    Alternative splice isoforms for NHEJ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NHEJ1 Gene

Proteomics data for NHEJ1 Gene at MOPED

Post-translational modifications for NHEJ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NHEJ1 Gene

No data available for DME Specific Peptides for NHEJ1 Gene

Domains for NHEJ1 Gene

Protein Domains for NHEJ1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NHEJ1_HUMAN
Domain:
  • The coiled-coil region mediates homodimerization:
    • Q9H9Q4
Family:
  • Belongs to the XLF family.:
    • Q9H9Q4
genes like me logo Genes that share domains with NHEJ1: view

No data available for Gene Families for NHEJ1 Gene

Function for NHEJ1 Gene

Molecular function for NHEJ1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for NHEJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16439205
genes like me logo Genes that share ontologies with NHEJ1: view
genes like me logo Genes that share phenotypes with NHEJ1: view

Animal Models for NHEJ1 Gene

MGI Knock Outs for NHEJ1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for NHEJ1 Gene

Localization for NHEJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NHEJ1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NHEJ1 Gene COMPARTMENTS Subcellular localization image for NHEJ1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NHEJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16439204
GO:0070419 nonhomologous end joining complex IDA 20383123
genes like me logo Genes that share ontologies with NHEJ1: view

Pathways for NHEJ1 Gene

genes like me logo Genes that share pathways with NHEJ1: view

Pathways by source for NHEJ1 Gene

2 Cell Signaling Technology pathways for NHEJ1 Gene
1 BioSystems pathway for NHEJ1 Gene
1 KEGG pathway for NHEJ1 Gene

Gene Ontology (GO) - Biological Process for NHEJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair --
GO:0006302 double-strand break repair --
GO:0006303 double-strand break repair via nonhomologous end joining IMP 16439204
GO:0006310 DNA recombination IEA --
GO:0007417 central nervous system development NAS 16439204
genes like me logo Genes that share ontologies with NHEJ1: view

Transcripts for NHEJ1 Gene

Unigene Clusters for NHEJ1 Gene

Nonhomologous end-joining factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NHEJ1 Gene

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:
SP6:
SP7: - - - -
SP8: - - -
SP9: - - - -
SP10:
SP11:
SP12:
SP13: - - - - -
SP14:
SP15:
SP16:

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: - - - -
SP6: -
SP7:
SP8:
SP9:
SP10: -
SP11: - - - - -
SP12:
SP13:
SP14: -
SP15: -
SP16:

Relevant External Links for NHEJ1 Gene

GeneLoc Exon Structure for
NHEJ1
ECgene alternative splicing isoforms for
NHEJ1

Expression for NHEJ1 Gene

mRNA expression in normal human tissues for NHEJ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NHEJ1 Gene

SOURCE GeneReport for Unigene cluster for NHEJ1 Gene Hs.225988

mRNA Expression by UniProt/SwissProt for NHEJ1 Gene

Q9H9Q4-NHEJ1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with NHEJ1: view

Orthologs for NHEJ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NHEJ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHEJ1 36
  • 99.44 (n)
  • 98.33 (a)
NHEJ1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NHEJ1 36
  • 86.85 (n)
  • 81.94 (a)
NHEJ1 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NHEJ1 36
  • 85.62 (n)
  • 81.61 (a)
NHEJ1 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nhej1 36
  • 81.13 (n)
  • 74.92 (a)
Nhej1 16
Nhej1 37
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NHEJ1 37
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NHEJ1 37
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nhej1 36
  • 82.61 (n)
  • 76.92 (a)
chicken
(Gallus gallus)
Aves NHEJ1 36
  • 57.68 (n)
  • 55.65 (a)
NHEJ1 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NHEJ1 37
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2343 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nhej1 36
  • 52.8 (n)
  • 43.36 (a)
Str.3483 36
zebrafish
(Danio rerio)
Actinopterygii nhej1 36
  • 48.61 (n)
  • 39.93 (a)
nhej1 37
  • 34 (a)
OneToOne
Species with no ortholog for NHEJ1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NHEJ1 Gene

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

Paralogs for NHEJ1 Gene

No data available for Paralogs for NHEJ1 Gene

Variants for NHEJ1 Gene

Sequence variations from dbSNP and Humsavar for NHEJ1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs181703 -- 219,076,525(+) ACTTT(C/T)TTCCT intron-variant
rs187221 -- 219,076,344(+) CTGTT(C/T)TCCAA utr-variant-3-prime
rs359960 -- 219,075,762(+) AATCA(C/T)CTATC utr-variant-3-prime
rs395436 -- 219,076,405(+) GGCTT(C/T)TTCCT synonymous-codon, reference
rs397180 -- 219,080,643(-) atata(A/T)aagct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NHEJ1 Gene

Variant ID Type Subtype PubMed ID
nsv875868 CNV Gain 21882294
esv2546592 CNV Deletion 19546169
nsv508200 CNV Loss 20534489
esv2721481 CNV Deletion 23290073

Relevant External Links for NHEJ1 Gene

HapMap Linkage Disequilibrium report
NHEJ1
Human Gene Mutation Database (HGMD)
NHEJ1
Locus Specific Mutation Databases (LSDB)
NHEJ1

Disorders for NHEJ1 Gene

(1) OMIM Diseases for NHEJ1 Gene (611290)

UniProtKB/Swiss-Prot

NHEJ1_HUMAN
  • 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. {ECO:0000269 PubMed:16439204, ECO:0000269 PubMed:16439205}. 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). {ECO:0000269 PubMed:12604777}.

(2) University of Copenhagen DISEASES for NHEJ1 Gene

Relevant External Links for NHEJ1

Genetic Association Database (GAD)
NHEJ1
Human Genome Epidemiology (HuGE) Navigator
NHEJ1
genes like me logo Genes that share disorders with NHEJ1: view

Publications for NHEJ1 Gene

  1. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. (PMID: 16439205) Ahnesorg P. … Jackson S.P. (Cell 2006) 2 3 4 23
  2. Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity. (PMID: 17317666) Lu H. … Lieber M.R. (J. Biol. Chem. 2007) 3 4 23
  3. Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends. (PMID: 17470781) Tsai C.J. … Chu G. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 23
  4. Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ. (PMID: 18046455) Li Y. … Blundell T.L. (EMBO J. 2008) 3 4 23
  5. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. (PMID: 16439204) Buck D. … Revy P. (Cell 2006) 2 3 4

Products for NHEJ1 Gene

Sources for NHEJ1 Gene

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