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
164392052006XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.271
164392052006XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.271
164392042006Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.253
187753232008Lymphocyte-specific compensation for XLF/cernunnos end-joining functions in V(D)J recombination.83
174707812007Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends.82
217754352011XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair.72
181589052007Crystal structure of human XLF: a twist in nonhomologous DNA end-joining.68
180464552008Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ.58
222875712012A human XRCC4-XLF complex bridges DNA.53
173176662007Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity.51

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