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HUMAN:NHEJ1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) NHEJ1 (synonyms: XLF)
Protein Name(s) Non-homologous end-joining factor 1

Protein cernunnos XRCC4-like factor

External Links
UniProt Q9H9Q4
EMBL AJ972687
AK022672
CR457291
AC020575
AC068946
AC097468
BC008210
BC012732
BC030986
CCDS CCDS2432.1
RefSeq NP_079058.1
UniGene Hs.225988
PDB 2QM4
2R9A
3Q4F
3RWR
3SR2
3W03
PDBsum 2QM4
2R9A
3Q4F
3RWR
3SR2
3W03
ProteinModelPortal Q9H9Q4
SMR Q9H9Q4
BioGrid 122931
DIP DIP-37959N
IntAct Q9H9Q4
MINT MINT-5003574
STRING 9606.ENSP00000349313
iPTMnet Q9H9Q4
PhosphoSitePlus Q9H9Q4
BioMuta NHEJ1
DMDM 74734059
EPD Q9H9Q4
MaxQB Q9H9Q4
PaxDb Q9H9Q4
PeptideAtlas Q9H9Q4
PRIDE Q9H9Q4
Ensembl ENST00000356853
ENST00000409720
GeneID 79840
KEGG hsa:79840
UCSC uc002vjp.5
CTD 79840
DisGeNET 79840
GeneCards NHEJ1
HGNC HGNC:25737
HPA CAB012334
HPA043869
MalaCards NHEJ1
MIM 611290
611291
neXtProt NX_Q9H9Q4
OpenTargets ENSG00000187736
Orphanet 208447
169079
PharmGKB PA144596401
eggNOG ENOG410IT7Y
ENOG411291V
GeneTree ENSGT00390000009940
HOGENOM HOG000089974
HOVERGEN HBG080703
InParanoid Q9H9Q4
KO K10980
OMA HQGTGDP
OrthoDB EOG091G1269
PhylomeDB Q9H9Q4
TreeFam TF328567
Reactome [www.reactome.org/content/detail/R-HSA-5693571 R-HSA-5693571]
SIGNOR Q9H9Q4
ChiTaRS NHEJ1
EvolutionaryTrace Q9H9Q4
GeneWiki XLF_(protein)
GenomeRNAi 79840
PRO PR:Q9H9Q4
Proteomes UP000005640
Bgee ENSG00000187736
CleanEx HS_NHEJ1
ExpressionAtlas Q9H9Q4
Genevisible Q9H9Q4
GO GO:0032807
GO:0001650
GO:0070419
GO:0005654
GO:0005634
GO:0045027
GO:0030183
GO:0007417
GO:0006310
GO:0006303
GO:0051351
GO:0010212
GO:0030217
Gene3D 2.170.210.10
InterPro IPR015381
IPR009089
Pfam PF09302

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0070419

nonhomologous end joining complex

PMID:25941166[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0070419

nonhomologous end joining complex

PMID:20383123[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0051351

positive regulation of ligase activity

PMID:16439205[3]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030217

T cell differentiation

PMID:16439204[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030183

B cell differentiation

PMID:16439204[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010212

response to ionizing radiation

PMID:16439205[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007417

central nervous system development

PMID:16439204[4]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

PMID:16439205[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

GO:0006303

response to ionizing radiation

PMID:16439205[3]

ECO:0000314

P

XLF directly interacts with the XRCC4-LIgase IV complex during NHEJ. Downregulated XLF leads to increased radiosensitivity as well as impaired NHEJ. Figure 3 part shows cells with XLF downregulation were more susceptible to damage from radiation.

complete
CACAO 12776

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

PMID:16439204[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:16439204[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:16439205[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0070419

nonhomologous end joining complex

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002085789
UniProtKB:Q9H9Q4

C

Seeded From UniProt

complete

enables

GO:0045027

DNA end binding

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002085789
SGD:S000004255

F

Seeded From UniProt

complete

part_of

GO:0032807

DNA ligase IV complex

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002085789
SGD:S000004255

C

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002085789
PomBase:SPCC24B10.14c
SGD:S000004255
UniProtKB:Q9H9Q4

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0001650

fibrillar center

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015381

C

Seeded From UniProt

complete

involved_in

GO:0006302

double-strand break repair

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015381

P

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

Reactome:R-HSA-5693571

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-5693604
Reactome:R-HSA-5693574
Reactome:R-HSA-5687360

ECO:0000304

author statement supported by traceable reference used in manual assertion



C

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0227

P

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0234

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. Craxton, A et al. (2015) XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair. Cell Death Differ. 22 890-7 PubMed GONUTS page
  2. Roberts, SA et al. (2010) Ku is a 5'-dRP/AP lyase that excises nucleotide damage near broken ends. Nature 464 1214-7 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 Ahnesorg, P et al. (2006) XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell 124 301-13 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 4.4 Buck, D et al. (2006) Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124 287-99 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page