LIG1 Gene Summary [Human]
This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | LIG1 |
| Official Name | DNA ligase 1 [Source:HGNC Symbol;Acc:HGNC:6598] |
| Ensembl ID | ENSG00000105486 |
| Bio databases IDs | |
| Aliases | DNA ligase 1, DNA ligase I |
| Synonyms | ATP-dependent DNA ligase I, DNA ligase 1, hLig1, IMD96, ligase I, DNA, ATP-dependent, LIGI, LOC100911727 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LIG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PCNA binding domain
- regulatory domain
- catalytic domain
- DNA ligase
- DNA ligase N terminus
- DNA ligase I, ATP-dependent (dnl1)
- DNA ligase (ATP)
- enzyme
- protein binding
- DNA binding
- phosphorylation site
- ATP dependent DNA ligase domain
- Adenylation domain of proteins similar to ATP-dependent polynucleotide ligases
- DNA ligase oligonucleotide-binding fold domain
Pathways
Biological processes and signaling networks where the LIG1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- anemia
- adenoma formation
- benign neoplasia
- lymphomagenesis
- bronchiolo-alveolar adenocarcinoma
- broncho-alveolar lung cancer
- poikilocytosis
- anisocytosis
role in cell
- apoptosis
- cell death
- number
- proliferation
- quantity
- cell cycle progression
- growth
- phosphorylation in
- survival
- breakage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleoplasm
- DNA replication foci
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LIG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- V(D)J recombination
- DNA repair
- base-excision repair
- lagging strand elongation
- DNA biosynthetic process
- DNA ligation
- anatomical structure morphogenesis
- base-excision repair, gap-filling
- mismatch repair
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- DNA binding
- DNA ligase (ATP) activity
- protein binding
- metal ion binding
- DNA ligase activity