LIG3
entrez
3980
canonical
uniprot
P49916
canonical
ensembl
ENSG00000005156
resolver
ensp
ENSP00000262327
resolver
ensp
ENSP00000367787
resolver
ensp
ENSP00000602579
resolver
genesymbol
LIG3
resolver
hgnc
HGNC:6600
resolver
uniprot
B7Z6I3
resolver
uniprot
E5KLB5
resolver
uniprot
E5KLB6
resolver
uniprot
Q16714
resolver
uniprot
Q6NVK3
resolver
uniprot_entry
B7Z6I3_HUMAN
resolver
uniprot_entry
DNLI3_HUMAN
resolver
uniprot_sec
E5KLB5
resolver
uniprot_sec
E5KLB6
resolver
uniprot_sec
Q16714
resolver
uniprot_sec
Q6NVK3
resolver
amino_acid_sequence
MSLAFKIFFPQTLRALSRKELCLFRKHHWRDVRQFSQWSETDLLHGHPLFLRRKPVLSFQGSHLRSRATYLVFLPGLHVGLCSGPCEMAEQRFCVDYAKRGTAGCKKCKEKIVKGVCRIGKVVPNPFSESGGDMKEWYHIKCMFEKLERARATTKKIEDLTELEGWEELEDNEKEQITQHIADLSSKAAGTPKKKAVVQAKLTTTGQVTSPVKGASFVTSTNPRKFSGFSAKPNNSGEAPSSPTPKRSLSSSKCDPRHKDCLLREFRKLCAMVADNPSYNTKTQIIQDFLRKGSAGDGFHGDVYLTVKLLLPGVIKTVYNLNDKQIVKLFSRIFNCNPDDMARDLEQGDVSETIRVFFEQSKSFPPAAKSLLTIQEVDEFLLRLSKLTKEDEQQQALQDIASRCTANDLKCIIRLIKHDLKMNSGAKHVLDALDPNAYEAFKASRNLQDVVERVLHNAQEVEKEPGQRRALSVQASLMTPVQPMLAEACKSVEYAMKKCPNGMFSEIKYDGERVQVHKNGDHFSYFSRSLKPVLPHKVAHFKDYIPQAFPGGHSMILDSEVLLIDNKTGKPLPFGTLGVHKKAAFQDANVCLFVFDCIYFNDVSLMDRPLCERRKFLHDNMVEIPNRIMFSEMKRVTKALDLADMITRVIQEGLEGLVLKDVKGTYEPGKRHWLKVKKDYLNEGAMADTADLVVLGAFYGQGSKGGMMSIFLMGCYDPGSQKWCTVTKCAGGHDDATLARLQNELDMVKISKDPSKIPSWLKVNKIYYPDFIVPDPKKAAVWEITGAEFSKSEAHTADGISIRFPRCTRIRDDKDWKSATNLPQLKELYQLSKEKADFTVVAGDEGSSTTGGSSEENKGPSGSAVSRKAPSKPSASTKKAEGKLSNSNSKDGNMQTAKPSAMKVGEKLATKSSPVKVGEKRKAADETLCQTKVLLDIFTGVRLYLPPSTPDFSRLRRYFVAFDGDLVQEFDMTSATHVLGSRDKNPAAQQVSPEWIWACIRKRRLVAPC
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 20, MNGIE type (MTDPS20) [MIM:619780]: An autosomal recessive mitochondrial disorder characterized by severe gut dysmotility, muscle weakness and atrophy, neurological abnormalities including epilepsy, migraine, stroke-like episodes, learning difficulties or cognitive decline, and neurogenic bladder. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. Disease onset can range from infancy to the teenage years. {ECO:0000269|PubMed:33855352, ECO:0000269|PubMed:34165507}. 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: Isoform 3 functions as a heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as a DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627). {ECO:0000269|PubMed:10207110, ECO:0000269|PubMed:24674627}.
uniprot
proteins
mass_dalton
112907
uniprot
proteins
mutagenesis
MUTAGEN 410; /note="K->E: Nearly abolishes ligase activity with blunt-ended DNA, but not with nicked DNA."; /evidence="ECO:0000269|PubMed:20518483"; MUTAGEN 414; /note="R->E: Abolishes ligase activity with blunt-ended DNA, but not with nicked DNA."; /evidence="ECO:0000269|PubMed:20518483
uniprot
proteins
protein_family
ATP-dependent DNA ligase family
uniprot
proteins
pubmed
10207110
uniprot
proteins
pubmed
11281714
uniprot
proteins
pubmed
15288782
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19336415
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20518483
uniprot
proteins
pubmed
20843780
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21652643
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24674627
uniprot
proteins
pubmed
33855352
uniprot
proteins
pubmed
34165507
uniprot
proteins
pubmed
7565692
uniprot
proteins
pubmed
7760816
uniprot
proteins
sequence_length
1009
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:10207110, ECO:0000269|PubMed:24674627}. Note=Contains an N-terminal mitochondrial transit peptide. {ECO:0000269|PubMed:10207110}.; SUBCELLULAR LOCATION: [Isoform 2]: Mitochondrion {ECO:0000305|PubMed:10207110}. Note=Contains an N-terminal mitochondrial transit peptide. {ECO:0000305|PubMed:10207110}.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus {ECO:0000269|PubMed:10207110}. Note=Lacks the N-terminal mitochondrial transit peptide. {ECO:0000269|PubMed:10207110}.; SUBCELLULAR LOCATION: [Isoform 4]: Nucleus {ECO:0000305|PubMed:10207110}. Note=Lacks the N-terminal mitochondrial transit peptide. {ECO:0000305|PubMed:10207110}.
uniprot
proteins