LIG3 Gene Summary [Human]
This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LIG3 |
| Official Name | DNA ligase 3 [Source:HGNC Symbol;Acc:HGNC:6600] |
| Ensembl ID | ENSG00000005156 |
| Bio databases IDs | |
| Aliases | DNA ligase 3, DNA ligase III |
| Synonyms | D11Wsu78e, DNA LIGASE3, DNA LIGASE3 alpha, DNA LIGASE3 α, DNA LIGASE III, DNA LIGASE III beta, DNA LIGASE III β, LIG2, LIG3alpha, ligase III, DNA, ATP-dependent, MTDPS20 |
| 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 LIG3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BRCT
- DNA ligase N terminus
- DNA ligase
- BRCT domain, a BRCA1 C-terminus domain
- DNA ligase I, ATP-dependent (dnl1)
- DNA ligase (ATP)
- coiled-coil domain
- enzyme
- protein binding
- ATP dependent DNA ligase domain
- DNA ligase D, ligase domain
- PEST domain
- DNA ligase 3 BRCT domain
- Adenylation domain of proteins similar to ATP-dependent polynucleotide ligases
- DNA ligase oligonucleotide-binding fold domain
- Poly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region
- zinc finger domain
- breast cancer carboxy-terminal domain
Pathways
Biological processes and signaling networks where the LIG3 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
- idiopathic scoliosis
- mitochondrial DNA depletion syndrome-20
- restless legs syndrome
- growth failure
- infection by HIV
regulates
- Histone Octamer
- h3c8.S
- h2ax.S
- DNA polymerase
- histone H4
- h2bc11.S
- mitochondrial DNA
- PNKP
role in cell
- apoptosis
- cell viability
- cell death
- degradation in
- frequency
- dysfunction
- organization
- DNA damage repair in
- dysfunction in
- poly(ADP-ribosyl)ation 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
- nuclear fraction
- Mitochondria
- mitochondrial matrix
- chromosome
- nucleoplasm
- synaptonemal complexes
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LIG3 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
- lagging strand elongation
- negative regulation of mitochondrial DNA replication
- double-strand break repair via homologous recombination
- DNA biosynthetic process
- base-excision repair, DNA ligation
- base-excision repair, gap-filling
- double-strand break repair
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- DNA ligase III-XRCC1 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ATP binding
- zinc ion binding
- DNA ligase (ATP) activity
- protein binding
- DNA ligase activity