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

Gene ID: 79840, updated on 11-Sep-2019

Summary

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
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]
Expression
Ubiquitous expression in testis (RPKM 11.1), colon (RPKM 7.7) and 25 other tissues See more
Orthologs

Genomic context

See NHEJ1 in Genome Data Viewer
Location:
2q35
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 signaling molecule Neighboring gene RNA, 7SL, cytoplasmic 764, pseudogene Neighboring gene solute carrier family 23 member 3 Neighboring gene cyclin Pas1/PHO80 domain containing 1 Neighboring gene reticulophagy regulator family member 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nonhomologous end joining complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

Preferred Names
non-homologous end-joining factor 1
Names
XRCC4-like factor
nonhomologous end-joining factor 1
protein cernunnos

NCBI Reference Sequences (RefSeq)

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, ENST00000356853.9
    Conserved Domains (1) summary
    pfam09302
    Location:12174
    XLF; XLF-Cernunnos, XRcc4-like factor, NHEJ component

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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