LIG1
entrez
3978
canonical
uniprot
P18858
canonical
ensembl
ENSG00000105486
resolver
ensp
ENSP00000263274
resolver
ensp
ENSP00000442841
resolver
ensp
ENSP00000471861
resolver
ensp
ENSP00000514663
resolver
ensp
ENSP00000514670
resolver
ensp
ENSP00000638395
resolver
ensp
ENSP00000638396
resolver
ensp
ENSP00000638397
resolver
ensp
ENSP00000638398
resolver
ensp
ENSP00000689332
resolver
enst
ENST00000596549
resolver
enst
ENST00000699866
resolver
enst
ENST00000699874
resolver
enst
ENST00000968336
resolver
enst
ENST00000968337
resolver
enst
ENST00000968338
resolver
enst
ENST00000968339
resolver
genesymbol
LIG1
resolver
hgnc
HGNC:6598
resolver
uniprot
A0A8V8TPH8
resolver
uniprot
A0A8V8TQC4
resolver
uniprot
B2RAI8
resolver
uniprot
B4DM52
resolver
uniprot
B4DTU4
resolver
uniprot
F5GZ28
resolver
uniprot
M0R1G7
resolver
uniprot
Q2TB12
resolver
uniprot
Q32P23
resolver
uniprot_entry
A0A8V8TPH8_HUMAN
resolver
uniprot_entry
A0A8V8TQC4_HUMAN
resolver
uniprot_entry
B4DM52_HUMAN
resolver
uniprot_entry
DNLI1_HUMAN
resolver
uniprot_entry
F5GZ28_HUMAN
resolver
uniprot_sec
B2RAI8
resolver
uniprot_sec
B4DTU4
resolver
uniprot_sec
M0R1G7
resolver
uniprot_sec
Q2TB12
resolver
uniprot_sec
Q32P23
resolver
amino_acid_sequence
MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGVVSESDSPVKRPGRKAARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENNASLSDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETPKESLTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQTKPPRRAPKTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACWKPGQKVPYLAVARTFEKIEEVSARLRMVETLSNLLRSVVALSPPDLLPVLYLSLNHLGPPQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAEKGDVGLVAENSRSTQRLMLPPPPLTASGVFSKFRDIARLTGSASTAKKIDIIKGLFVACRHSEARFIARSLSGRLRLGLAEQSVLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRIIPVLLEHGLERLPEHCKLSPGIPLKPMLAHPTRGISEVLKRFEEAAFTCEYKYDGQRAQIHALEGGEVKIFSRNQEDNTGKYPDIISRIPKIKLPSVTSFILDTEAVAWDREKKQIQPFQVLTTRKRKEVDASEIQVQVCLYAFDLIYLNGESLVREPLSRRRQLLRENFVETEGEFVFATSLDTKDIEQIAEFLEQSVKDSCEGLMVKTLDVDATYEIAKRSHNWLKLKKDYLDGVGDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQAICKLGTGFSDEELEEHHQSLKALVLPSPRPYVRIDGAVIPDHWLDPSAVWEVKCADLSLSPIYPAARGLVDSDKGISLRFPRFIRVREDKQPEQATTSAQVACLYRKQSQIQNQQGEDSGSDPEDTY
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 96 (IMD96) [MIM:619774]: An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. {ECO:0000269|PubMed:1581963, ECO:0000269|PubMed:30395541}. 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 that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination. {ECO:0000269|PubMed:30395541}.
uniprot
proteins
mass_dalton
101736
uniprot
proteins
mutagenesis
MUTAGEN 568; /note="K->G: Loss of DNA ligase activity."; /evidence="ECO:0000269|PubMed:30395541"; MUTAGEN 600; /note="D->A: Severely reduced DNA ligase activity."; /evidence="ECO:0000269|PubMed:30395541"; MUTAGEN 641; /note="R->A: Severely reduced DNA ligase activity."; /evidence="ECO:0000269|PubMed:30395541"; MUTAGEN 642; /note="K->A: No effect on DNA ligase activity."; /evidence="ECO:0000269|PubMed:30395541"; MUTAGEN 643; /note="R->A: No effect on DNA ligase activity."; /evidence="ECO:0000269|PubMed:30395541"; MUTAGEN 644; /note="K->A: No effect on DNA ligase activity."; /evidence="ECO:0000269|PubMed:30395541
uniprot
proteins
protein_family
ATP-dependent DNA ligase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15565146
uniprot
proteins
pubmed
1581963
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17693683
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1881902
uniprot
proteins
pubmed
19336415
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2204063
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24911150
uniprot
proteins
pubmed
30395541
uniprot
proteins
sequence_length
919
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins