LIG4
LIG4 Gene Summary
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LIG4 |
| Official Name | DNA ligase 4 [Source:HGNC Symbol;Acc:HGNC:6601] |
| Ensembl ID | ENSG00000174405 |
| Bio databases IDs | |
| Aliases | DNA ligase 4, polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase, DNA repair enzyme, DNA joinase, DNA ligase IV |
| Synonyms | 5830471N16Rik,DNA ligase 4,LIG4S,ligase IV, DNA, ATP-dependent,tiny |
| Species | Human, Homo sapiens |
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 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
- catalytic domain
- DNA ligase N terminus
- DNA ligase
- BRCT domain, a BRCA1 C-terminus domain
- DNA ligase I, ATP-dependent (dnl1)
- ATP binding
- DNA ligase (ATP)
- enzyme
- protein binding
- magnesium ion binding
- DNA binding
- ATP dependent DNA ligase domain
- AMP binding
- Adenylation domain of proteins similar to ATP-dependent polynucleotide ligases
- ligase
- BRCA1 C Terminus (BRCT) domain
- DNA ligase IV
- DNA ligase oligonucleotide-binding fold domain
- breast cancer carboxy-terminal domain
Pathways
Biological processes and signaling networks where the LIG4 gene 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.
binds
- LIG3
- XRCC5
- XRCC4
- EIF4A1
- REV
- MT-CO3
- DCLRE1C
- RUVBL2
- VPR
- DNTT
disease
- neoplasia
- cancer
- Lig4 syndrome
- hereditary disorder
- microcephaly
- sporadic amyotrophic lateral sclerosis
- lymphomagenesis
- hematologic cancer
- lymphoid cancer
- hematological neoplasia
regulated by
- XPC
- gentamicin
- lipopolysaccharide
- bleomycin
- XRCC6
- IKZF1
- IL4
- NUP98-HOXD13
- CD40LG
- ANGPT2
regulates
- TCR (family)
- XRCC6
- ATM
- PRKDC
- RIGI
- XRCC5
- POLM
- XRCC4
- H2AX
- pUC19
role in cell
- accumulation in
- cell death
- proliferation
- growth
- apoptosis
- differentiation
- number
- function
- development
- abnormal morphology
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
- soluble fraction
- intracellular membrane-bounded organelle
- nuclear foci
- chromosome
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the LIG4 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- cell proliferation
- positive regulation of chromosome organization
- response to X-ray
- DNA ligation
- neurogenesis
- double-strand break repair via nonhomologous end joining
- double-strand break repair
- negative regulation of neuron apoptotic process
- cell division
- DNA ligation involved in DNA repair
- fibroblast proliferation
- DNA ligation involved in DNA recombination
- in utero embryonic development
- positive regulation of fibroblast proliferation
- stem cell proliferation
- DNA biosynthetic process
- somatic stem cell maintenance
- cellular response to ionizing radiation
- response to gamma radiation
- neuron apoptotic process
- isotype switching
- V(D)J recombination
- T cell differentiation in thymus
- T cell receptor V(D)J recombination
- immunoglobulin V(D)J recombination
- nucleotide-excision repair, DNA gap filling
- single strand break repair
- cellular response to lithium ion
- central nervous system development
- pro-B cell differentiation
- chromosome organization
- positive regulation of neurogenesis
CELLULAR COMPONENT
Where in the cell the gene product is active
- condensed chromosome
- chromosome, telomeric region
- nucleus
- nonhomologous end joining complex
- DNA-dependent protein kinase-DNA ligase 4 complex
- DNA ligase IV complex
- intracellular membrane-bounded organelle
- nucleoplasm
MOLECULAR FUNCTION
What the gene product does at the molecular level
- magnesium ion binding
- ATP binding
- DNA binding
- DNA ligase (ATP) activity
- protein binding
- DNA ligase activity
- ligase activity