LIG1 (DNA ligase 1)

2003-11-01  

Identity

HGNC
LIG1
LOCATION
19q13.33
LOCUSID
3978
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3978
MIM: 126391
HGNC: 6598
Ensembl: ENSG00000105486

Variants:

dbSNP: 3978
ClinVar: 3978
TCGA: ENSG00000105486
COSMIC: LIG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105486ENST00000263274P18858
ENSG00000105486ENST00000427526P18858
ENSG00000105486ENST00000536218F5GZ28
ENSG00000105486ENST00000542460B4E135
ENSG00000105486ENST00000593425M0QY71
ENSG00000105486ENST00000594759M0R0Q7
ENSG00000105486ENST00000596549M0R1G7
ENSG00000105486ENST00000596672M0R254
ENSG00000105486ENST00000598938M0R1S4
ENSG00000105486ENST00000601091P18858
ENSG00000105486ENST00000613670P18858

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DNA replicationKEGGko03030
Base excision repairKEGGko03410
Nucleotide excision repairKEGGko03420
Mismatch repairKEGGko03430
DNA replicationKEGGhsa03030
Base excision repairKEGGhsa03410
Nucleotide excision repairKEGGhsa03420
Mismatch repairKEGGhsa03430
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Early Phase of HIV Life CycleREACTOMER-HSA-162594
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Synthesis of DNAREACTOMER-HSA-69239
DNA strand elongationREACTOMER-HSA-69190
Lagging Strand SynthesisREACTOMER-HSA-69186
Processive synthesis on the lagging strandREACTOMER-HSA-69183
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere C-strand (Lagging Strand) SynthesisREACTOMER-HSA-174417
Processive synthesis on the C-strand of the telomereREACTOMER-HSA-174414
DNA ReplicationREACTOMER-HSA-69306
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
Resolution of AP sites via the multiple-nucleotide patch replacement pathwayREACTOMER-HSA-110373
POLB-Dependent Long Patch Base Excision RepairREACTOMER-HSA-110362
PCNA-Dependent Long Patch Base Excision RepairREACTOMER-HSA-5651801
Mismatch RepairREACTOMER-HSA-5358508
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)REACTOMER-HSA-5358565
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)REACTOMER-HSA-5358606
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Gap-filling DNA repair synthesis and ligation in GG-NERREACTOMER-HSA-5696397
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385225202024Structures of LIG1 provide a mechanistic basis for understanding a lack of sugar discrimination against a ribonucleotide at the 3'-end of nick DNA.1
385225202024Structures of LIG1 provide a mechanistic basis for understanding a lack of sugar discrimination against a ribonucleotide at the 3'-end of nick DNA.1
366252842023Human DNA ligases I and III have stand-alone end-joining capability, but differ in ligation efficiency and specificity.1
369280682023Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1.2
373694822023The Association of DNA Ligase 1 Rs20579 Polymorphism With Lung Cancer Risk Among Taiwanese.2
366252842023Human DNA ligases I and III have stand-alone end-joining capability, but differ in ligation efficiency and specificity.1
369280682023Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1.2
373694822023The Association of DNA Ligase 1 Rs20579 Polymorphism With Lung Cancer Risk Among Taiwanese.2
334444562021LIG1 syndrome mutations remodel a cooperative network of ligand binding interactions to compromise ligation efficiency.10
336007992021DNA ligase I fidelity mediates the mutagenic ligation of pol β oxidized and mismatch nucleotide insertion products in base excision repair.10
343737462021Ligase 1 is a predictor of platinum resistance and its blockade is synthetically lethal in XRCC1 deficient epithelial ovarian cancers.10
334444562021LIG1 syndrome mutations remodel a cooperative network of ligand binding interactions to compromise ligation efficiency.10
336007992021DNA ligase I fidelity mediates the mutagenic ligation of pol β oxidized and mismatch nucleotide insertion products in base excision repair.10
343737462021Ligase 1 is a predictor of platinum resistance and its blockade is synthetically lethal in XRCC1 deficient epithelial ovarian cancers.10
316302062020Altered DNA ligase activity in human disease.16

Citation

Dessen P

LIG1 (DNA ligase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41154/lig1-(dna-ligase-1)