LITAF Gene Summary [Human]
Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | LITAF |
| Official Name | lipopolysaccharide induced TNF factor [Source:HGNC Symbol;Acc:HGNC:16841] |
| Ensembl ID | ENSG00000189067 |
| Bio databases IDs | |
| Aliases | lipopolysaccharide induced TNF factor |
| Synonyms | 3222402J11Rik, EET-1, Estrogen responsive uterine, lipopolysaccharide-induced TNF factor, LPS-induced TN factor, LPS-INDUCED TNF alpha FACTOR, LPS-INDUCED TNF α FACTOR, N4WBP3, PIG7, SIMPLE, TBX1, TP53I7 |
| 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 LITAF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- zinc ion binding
- nucleic acid binding
- double-stranded DNA binding
- WW domain binding
- LITAF-like zinc ribbon domain
- protein binding
- sequence-specific DNA binding
- identical protein binding
- proline tyrosine motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Charcot-Marie-Tooth disease axonal type 1c
- renal clear cell adenocarcinoma
- renal clear cell cancer
- ulcerative colitis
- demyelination
- inflammatory bowel disease
- hereditary disorder
- Charcot-Marie-Tooth disease
- Crohn disease
role in cell
- expression in
- growth
- response
- phosphorylation in
- formation
- quantity
- number
- formation in
- migration
- function
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
- intracellular membrane-bounded organelle
- Cytoplasm
- Extracellular Space
- Plasma Membrane
- lysosome
- Golgi Apparatus
- cytoplasmic face of plasma membrane
- lysosome membrane
- nucleoplasm
- early endosomes
- late endosomes
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LITAF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to lipopolysaccharide
- regulation of macrophage cytokine production
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- regulation of cytokine production
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- Golgi membrane
- Golgi apparatus
- plasma membrane
- lysosomal membrane
- internal side of plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- zinc ion binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- WW domain binding