Format

Send to:

Choose Destination

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

Gene ID: 79840, updated on 23-Nov-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See NHEJ1 in Genome Data Viewer
Location:
2q35
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219069357..219160815, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219934079..220025537, 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 Sharpr-MPRA regulatory region 9830 Neighboring gene cyclin Pas1/PHO80 domain containing 1

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

Associated conditions

Description Tests
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
Genome-wide association analysis identifies 20 loci that influence adult height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
MedGen: C1969799 OMIM: 611291 GeneReviews: Not available
Compare labs

Pathways from PubChem

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
enables DNA end binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA end binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of DNA ligase IV complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
part_of nonhomologous end joining complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nonhomologous end joining complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in site of double-strand break 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)

NEW Try the new Transcript table

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_001377498.1NP_001364427.1  non-homologous end-joining factor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC068946, AC097468
    Related
    ENSP00000387290.1, ENST00000409720.5
    Conserved Domains (1) summary
    pfam09302
    Location:12174
    XLF; XLF-Cernunnos, XRcc4-like factor, NHEJ component
  2. NM_001377499.1NP_001364428.1  non-homologous end-joining factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC068946, AC097468
    Conserved Domains (1) summary
    pfam09302
    Location:12174
    XLF; XLF-Cernunnos, XRcc4-like factor, NHEJ component
  3. NM_024782.3NP_079058.1  non-homologous end-joining factor 1 isoform 1

    See identical proteins and their annotated locations for NP_079058.1

    Status: REVIEWED

    Source sequence(s)
    AC097468, AJ972687, DB124934
    Consensus CDS
    CCDS2432.1
    UniProtKB/Swiss-Prot
    Q9H9Q4
    Related
    ENSP00000349313.5, ENST00000356853.10
    Conserved Domains (1) summary
    pfam09302
    Location:12174
    XLF; XLF-Cernunnos, XRcc4-like factor, NHEJ component

RNA

  1. NR_165304.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC020575, AC068946, AC097468

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    219069357..219160815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center