| Type | Description |
|---|---|
| Definition | non-homologous end joining factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:15:00 | Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene. | 31259832 |
| 2020-10-10 12:59:00 | Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination. | 31731258 |
| 2020-09-12 16:02:00 | The canonical non-homologous end joining factor XLF promotes chromosomal deletion rearrangements in human cells. | 31753920 |
| 2019-11-30 10:21:00 | Description of two unrelated cases with Cernunnos/XLF deficiency and with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect. | 30666249 |
| 2019-08-24 12:44:00 | The crystal structures of the Ku-binding motifs (KBM) of the non-homologous end joining (NHEJ) proteins APLF (A-KBM) and XLF (X-KBM) bound to a Ku-DNA complex are discussed. | 30291363 |
| Type | IDs |
|---|---|
| Synonymous | XLF |
| Gene |
UniProtKB-ID:
NHEJ1_HUMAN
UniprotKB:
Q9H9Q4
UniParc:
UPI000006D9F7,
UPI00006C21C7
EMBL:
AK022672,
BC030986,
BC008210,
AC020575,
AC097468,
AJ972687,
BC012732,
CR457291,
AC068946
Ensembl:
ENSG00000187736
KO:
hsa:79840
|
| Nucleutide sequences |
EMBL-CDS:
BAB14168.1,
AAH30986.1,
CAI99410.1,
AAH12732.1,
CAG33572.1,
AAH08210.2,
AAX88921.1
Ensembl_TRS:
ENST00000356853,
ENST00000409720
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000349313,
ENSP00000387290
RefSeq:
NP_001364427.1,
NP_079058.1,
NP_001364428.1
|
| Others |
UniRef100:
UniRef100_Q9H9Q4
UniRef90:
UniRef90_Q9H9Q4
UniRef50:
UniRef50_Q9H9Q4
UniGene:
Hs.225988
CCDS:
CCDS2432.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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