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Mouse Anti-NHEJ1 Recombinant Antibody (1G7) (CBMAB-N2422-WJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
1G7
Antibody Isotype
IgG1
Application
FC, IF, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.3, 1% BSA, 50% glycerol
Preservative
0.02% sodium azide
Concentration
0.66 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Non-Homologous End Joining Factor 1
Introduction
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]
Entrez Gene ID
79840
UniProt ID
Q9H9Q4
Alternative Names
Non-Homologous End Joining Factor 1; XRCC4-Like Factor; Nonhomologous End-Joining Factor 1; Protein Cernunnos; XLF; Non-Homologous End-Joining Factor 1;
Function
DNA repair protein involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:16439204, PubMed:16439205, PubMed:17717001, PubMed:17317666, PubMed:17470781, PubMed:18644470, PubMed:20558749, PubMed:26100018, PubMed:18158905).
Plays a key role in NHEJ by promoting the ligation of various mismatched and non-cohesive ends (PubMed:17717001, PubMed:17470781, PubMed:19056826).
Together with PAXX, collaborates with DNA polymerase lambda (POLL) to promote joining of non-cohesive DNA ends (PubMed:30250067, PubMed:25670504).
May act in concert with XRCC5-XRCC6 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are non-complementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17317666, PubMed:17470781).
Associates with XRCC4 to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired (PubMed:22228831, PubMed:26100018, PubMed:28500754, PubMed:27437582, PubMed:21775435, PubMed:22287571, PubMed:21768349).
The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other (PubMed:28500754, PubMed:27437582).
The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors (PubMed:27437582).
Binds DNA in a length-dependent manner (PubMed:17317666, PubMed:18158905).
Biological Process
B cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Central nervous system development1 PublicationNAS:UniProtKB
DNA ligation involved in DNA repairManual Assertion Based On ExperimentIDA:UniProtKB
Double-strand break repair via nonhomologous end joiningManual Assertion Based On ExperimentIDA:UniProtKB
Immunoglobulin V(D)J recombinationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of ligase activity1 PublicationNAS:UniProtKB
Response to ionizing radiationManual Assertion Based On ExperimentIDA:UniProtKB
T cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Nucleus
Chromosome
Localizes to site of double-strand breaks; recruitment is dependent on XRCC5-XRCC6 (Ku) heterodimer.
Involvement in disease
Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID):
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.
PTM
Phosphorylated by PRKDC at the C-terminus in response to DNA damage (PubMed:18644470, PubMed:22228831, PubMed:28500754).
Phosphorylations by PRKDC at the C-terminus of XRCC4 and NHEJ1/XLF are highly redundant and regulate ability of the XRCC4-NHEJ1/XLF subcomplex to bridge DNA (PubMed:22228831, PubMed:28500754).
Phosphorylation does not prevent interaction with XRCC4 but disrupts ability to bridge DNA and promotes detachment from DNA (PubMed:22228831, PubMed:28500754).
More Infomation

Wormser, O., Perez, Y., Dolgin, V., Kamali, B., Tangeman, J. A., Gradstein, L., ... & Birk, O. S. (2023). IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma. NPJ Genomic Medicine, 8(1), 22.

Poyer, F., Jimenez Heredia, R., Novak, W., Zeitlhofer, P., Nebral, K., Dworzak, M. N., ... & Kager, L. (2022). Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del (20q) in a NHEJ1-Deficient Long-term Survivor. Frontiers in Immunology, 13, 869047.

Marelli, S. P., Rizzi, R., Paganelli, A., Bagardi, M., Minozzi, G., Brambilla, P. G., & Polli, M. (2022). Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy. Veterinary Record Open, 9(1), e26.

Frizinsky, S., Rechavi, E., Barel, O., Lee, Y. N., Simon, A. J., Lev, A., ... & Somech, R. (2022). Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires. Frontiers in Pediatrics, 10, 883173.

Al-Marhoobi, R., Al-Musalhi, M., Wali, Y., Alsayegh, A., & Al-Tamemi, S. (2020). Combined immunodeficiency, hemolytic anemia, and growth retardation secondary to a homozygous mutation in the NHEJ1 gene. Journal of Pediatric Hematology/Oncology, 42(4), 333-335.

Arora, M., Kumari, S., Singh, J., Chopra, A., & Chauhan, S. S. (2020). PAXX, not NHEJ1 is an independent prognosticator in colon cancer. Frontiers in Molecular Biosciences, 7, 584053.

Kinoshita, K., Suzuki, T., Koike, M., Nishida, C., Koike, A., Nunome, M., ... & Matsuda, Y. (2020). Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken. Communications Biology, 3(1), 144.

Recio, M. J., Dominguez-Pinilla, N., Perrig, M. S., Rodriguez Vigil-Iturrate, C., Salmón-Rodriguez, N., Martinez Faci, C., ... & Gonzalez-Granado, L. I. (2019). Extreme phenotypes with identical mutations: two patients with same non-sense NHEJ1 homozygous mutation. Frontiers in immunology, 9, 2959.

Esmaeilzadeh, H., Bordbar, M. R., Hojaji, Z., Habibzadeh, P., Afshinfar, D., Miryounesi, M., ... & Faghihi, M. A. (2019). An immunocompetent patient with a nonsense mutation in NHEJ1 gene. BMC medical genetics, 20, 1-5.

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For research use only. Not intended for any clinical use.

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