LIG4
entrez
3981
canonical
uniprot
P49917
canonical
ensembl
ENSG00000174405
resolver
ensp
ENSP00000385955
resolver
ensp
ENSP00000402030
resolver
ensp
ENSP00000480814
resolver
ensp
ENSP00000484288
resolver
ensp
ENSP00000508512
resolver
ensp
ENSP00000508867
resolver
ensp
ENSP00000509122
resolver
ensp
ENSP00000509226
resolver
ensp
ENSP00000509299
resolver
ensp
ENSP00000509304
resolver
ensp
ENSP00000509344
resolver
ensp
ENSP00000509468
resolver
ensp
ENSP00000509502
resolver
ensp
ENSP00000509564
resolver
ensp
ENSP00000509685
resolver
ensp
ENSP00000509906
resolver
ensp
ENSP00000509942
resolver
ensp
ENSP00000510014
resolver
ensp
ENSP00000510567
resolver
ensp
ENSP00000527259
resolver
ensp
ENSP00000527260
resolver
ensp
ENSP00000527261
resolver
ensp
ENSP00000527262
resolver
ensp
ENSP00000605566
resolver
ensp
ENSP00000605567
resolver
ensp
ENSP00000605568
resolver
ensp
ENSP00000605569
resolver
ensp
ENSP00000628233
resolver
enst
ENST00000405925
resolver
enst
ENST00000442234
resolver
enst
ENST00000611712
resolver
enst
ENST00000614526
resolver
enst
ENST00000685338
resolver
enst
ENST00000686095
resolver
enst
ENST00000686204
resolver
enst
ENST00000686913
resolver
enst
ENST00000686926
resolver
enst
ENST00000687164
resolver
enst
ENST00000687822
resolver
enst
ENST00000688396
resolver
enst
ENST00000688455
resolver
enst
ENST00000688529
resolver
enst
ENST00000688595
resolver
enst
ENST00000689762
resolver
enst
ENST00000690127
resolver
enst
ENST00000692222
resolver
enst
ENST00000693040
resolver
enst
ENST00000857200
resolver
enst
ENST00000857201
resolver
enst
ENST00000857202
resolver
enst
ENST00000857203
resolver
enst
ENST00000935507
resolver
enst
ENST00000935508
resolver
enst
ENST00000935509
resolver
enst
ENST00000935510
resolver
enst
ENST00000958174
resolver
genesymbol
LIG4
resolver
hgnc
HGNC:6601
resolver
uniprot
A0A0C4DGV9
resolver
uniprot
A8K8Q4
resolver
uniprot
Q8IY66
resolver
uniprot
Q8TEU5
resolver
uniprot_entry
A0A0C4DGV9_HUMAN
resolver
uniprot_entry
A8K8Q4_HUMAN
resolver
uniprot_entry
DNLI4_HUMAN
resolver
uniprot_sec
Q8IY66
resolver
uniprot_sec
Q8TEU5
resolver
amino_acid_sequence
MAASQTSQTVASHVPFADLCSTLERIQKSKGRAEKIRHFREFLDSWRKFHDALHKNHKDVTDSFYPAMRLILPQLERERMAYGIKETMLAKLYIELLNLPRDGKDALKLLNYRTPTGTHGDAGDFAMIAYFVLKPRCLQKGSLTIQQVNDLLDSIASNNSAKRKDLIKKSLLQLITQSSALEQKWLIRMIIKDLKLGVSQQTIFSVFHNDAAELHNVTTDLEKVCRQLHDPSVGLSDISITLFSAFKPMLAAIADIEHIEKDMKHQSFYIETKLDGERMQMHKDGDVYKYFSRNGYNYTDQFGASPTEGSLTPFIHNAFKADIQICILDGEMMAYNPNTQTFMQKGTKFDIKRMVEDSDLQTCYCVFDVLMVNNKKLGHETLRKRYEILSSIFTPIPGRIEIVQKTQAHTKNEVIDALNEAIDKREEGIMVKQPLSIYKPDKRGEGWLKIKPEYVSGLMDELDILIVGGYWGKGSRGGMMSHFLCAVAEKPPPGEKPSVFHTLSRVGSGCTMKELYDLGLKLAKYWKPFHRKAPPSSILCGTEKPEVYIEPCNSVIVQIKAAEIVPSDMYKTGCTLRFPRIEKIRDDKEWHECMTLDDLEQLRGKASGKLASKHLYIGGDDEPQEKKRKAAPKMKKVIGIIEHLKAPNLTNVNKISNIFEDVEFCVMSGTDSQPKPDLENRIAEFGGYIVQNPGPDTYCVIAGSENIRVKNIILSNKHDVVKPAWLLECFKTKSFVPWQPRFMIHMCPSTKEHFAREYDCYGDSYFIDTDLNQLKEVFSGIKNSNEQTPEEMASLIADLEYRYSWDCSPLSMFRRHTVYLDSYAVINDLSTKNEGTRLAIKALELRFHGAKVVSCLAEGVSHVIIGEDHSRVADFKAFRRTFKRKFKILKESWVTDSIDKCELQEENQYLI
uniprot
proteins
disease_involvement
DISEASE: LIG4 syndrome (LIG4S) [MIM:606593]: Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities. {ECO:0000269|PubMed:11779494}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]: A form of severe combined immunodeficiency, 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 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. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. {ECO:0000269|PubMed:16357942}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.5.1.1
uniprot
proteins
function
FUNCTION: DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:12517771, PubMed:17290226, PubMed:23523427, PubMed:29980672, PubMed:33586762, PubMed:8798671, PubMed:9242410, PubMed:9809069). Catalyzes the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). Joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). LIG4 is mechanistically flexible: it can ligate nicks as well as compatible DNA overhangs alone, while in the presence of XRCC4, it can ligate ends with 2-nucleotides (nt) microhomology and 1-nt gaps (PubMed:17290226). Forms a subcomplex with XRCC4; the LIG4-XRCC4 subcomplex is responsible for the NHEJ ligation step and XRCC4 enhances the joining activity of LIG4 (PubMed:9242410, PubMed:9809069). Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends (PubMed:10854421). LIG4 regulates nuclear localization of XRCC4 (PubMed:24984242). {ECO:0000269|PubMed:10854421, ECO:0000269|PubMed:12517771, ECO:0000269|PubMed:17290226, ECO:0000269|PubMed:23523427, ECO:0000269|PubMed:24984242, ECO:0000269|PubMed:29980672, ECO:0000269|PubMed:33586762, ECO:0000269|PubMed:8798671, ECO:0000269|PubMed:9242410, ECO:0000269|PubMed:9809069}.
uniprot
proteins
mass_dalton
103971
uniprot
proteins
protein_family
ATP-dependent DNA ligase family
uniprot
proteins
pubmed
10395545
uniprot
proteins
pubmed
10854421
uniprot
proteins
pubmed
11349135
uniprot
proteins
pubmed
11702069
uniprot
proteins
pubmed
11779494
uniprot
proteins
pubmed
12471202
uniprot
proteins
pubmed
12517771
uniprot
proteins
pubmed
12547193
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16357942
uniprot
proteins
pubmed
17290226
uniprot
proteins
pubmed
17396150
uniprot
proteins
pubmed
17567543
uniprot
proteins
pubmed
19332554
uniprot
proteins
pubmed
19837014
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21982441
uniprot
proteins
pubmed
22658747
uniprot
proteins
pubmed
23219551
uniprot
proteins
pubmed
23523427
uniprot
proteins
pubmed
24984242
uniprot
proteins
pubmed
25574025
uniprot
proteins
pubmed
25670504
uniprot
proteins
pubmed
25728776
uniprot
proteins
pubmed
25934149
uniprot
proteins
pubmed
25941166
uniprot
proteins
pubmed
29980672
uniprot
proteins
pubmed
33586762
uniprot
proteins
pubmed
33854234
uniprot
proteins
pubmed
34352203
uniprot
proteins
pubmed
7760816
uniprot
proteins
pubmed
8798671
uniprot
proteins
pubmed
9242410
uniprot
proteins
pubmed
9259561
uniprot
proteins
pubmed
9809069
uniprot
proteins
sequence_length
911
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21982441, ECO:0000269|PubMed:24984242, ECO:0000269|PubMed:25934149, ECO:0000269|PubMed:8798671}.
uniprot
proteins