Information on NHEJ1
Basic details
Alt. symbols: Cernunnos | XLF | FLJ12610
Approved name: non-homologous end joining factor 1
Alt. names: nonhomologous end-joining factor 1 | XRCC4-like factor
Location: 2q35: 219069355 - 219160869 (-)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.549000 | pLI: 0.02718453 | LOEUF: 0.738
Normal function
The NHEJ1 encodes the non-homologous end-joining factor 1 (NHEJ1), also known as Cernunnos or XRCC4-like factor (XLF). NHEJ1 is part of the NHEJ complex that is required for the non-homologous end joining (NHEJ) pathway of DNA repair. The NHEJ pathway is part of the V(D)J recombination process, which is the mechanism by which the diversity in the antibody and receptor repertoire of the immune system is generated. As part of the NHEJ complex, NHEJ1 directly interacts with XRCC4 (which dysfunction leads to the short stature, microcephaly, and endocrine dysfunction syndrome) and the Ku70/80 heterodimer. The NHEJ complex is also formed by the Ligase IV protein (which dysfunction causes the LIG4 syndrome). Specifically, NHEJ1 is thought to be involved in the end-bridging or ligation steps of NHEJ, a type of DNA repair process that resolves double-stranded breaks (DBS).
Dysfunction and disease
Pathogenic biallelic mutations in NHEJ1 cause a type of severe combined immunodeficiency (SCID) that is additionally characterized by sensitivity to ionizing radiation and by the presence of syndromic features including microcephaly, growth retardation, urogenital and bone malformations and bird-like faces. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2022-08-08 09:41:22]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCID13 |
SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | AR |
611291 |
2 (1 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of NHEJ1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000426304.6 | protein_coding | 8 | No | 753 | NM_001377499 | |||
| 201 | ENST00000356853.10 | 1 | CCDS2432 | Select | protein_coding | 8 | Yes | 8020 | NM_024782 |
| 206 | ENST00000457600.3 | protein_coding | 8 | No | 734 | NM_001377498 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in NHEJ1
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 696 |
2006 | XLF interacts with the XRCC4-DNA ligase IV complex to promot... | Cell | 16439205 |
1 |