NHEJ1 (non-homologous end joining factor 1)

2007-02-01  

Identity

HGNC
NHEJ1
LOCATION
2q35
LOCUSID
79840
ALIAS
XLF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79840
MIM: 611290
HGNC: 25737
Ensembl: ENSG00000187736

Variants:

dbSNP: 79840
ClinVar: 79840
TCGA: ENSG00000187736
COSMIC: NHEJ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187736ENST00000356853Q9H9Q4
ENSG00000187736ENST00000409720Q9H9Q4
ENSG00000187736ENST00000418099G5E9Q8
ENSG00000187736ENST00000426304H7C0G7
ENSG00000187736ENST00000450447F8WEB8
ENSG00000187736ENST00000457600C9JWV4

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Non-homologous end-joiningKEGGko03450
Non-homologous end-joiningKEGGhsa03450
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372569502023PAXX binding to the NHEJ machinery explains functional redundancy with XLF.6
372569502023PAXX binding to the NHEJ machinery explains functional redundancy with XLF.6
340568032021X-ray scattering reveals disordered linkers and dynamic interfaces in complexes and mechanisms for DNA double-strand break repair impacting cell and cancer biology.15
342447912021The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.2
343522032021Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.43
340568032021X-ray scattering reveals disordered linkers and dynamic interfaces in complexes and mechanisms for DNA double-strand break repair impacting cell and cancer biology.15
342447912021The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.2
343522032021Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.43
312598322020Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene.2
317312582020Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination.9
317539202020The canonical non-homologous end joining factor XLF promotes chromosomal deletion rearrangements in human cells.10
312598322020Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene.2
317312582020Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination.9
317539202020The canonical non-homologous end joining factor XLF promotes chromosomal deletion rearrangements in human cells.10
305797082019Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53.13

Citation

Dessen P

NHEJ1 (non-homologous end joining factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45953/nhej1-(non-homologous-end-joining-factor-1)