Human Gene LITAF (ENST00000622633.5) from GENCODE V44
Description: Homo sapiens lipopolysaccharide induced TNF factor (LITAF), transcript variant 2, mRNA. (from RefSeq NM_001136472) RefSeq Summary (NM_001136472): 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]. Gencode Transcript: ENST00000622633.5 Gencode Gene: ENSG00000189067.14 Transcript (Including UTRs) Position: hg38 chr16:11,547,722-11,586,919 Size: 39,198 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr16:11,549,637-11,556,730 Size: 7,094 Coding Exon Count: 3
ID:LITAF_HUMAN DESCRIPTION: RecName: Full=Lipopolysaccharide-induced tumor necrosis factor-alpha factor; Short=LPS-induced TNF-alpha factor; AltName: Full=Small integral membrane protein of lysosome/late endosome; AltName: Full=p53-induced gene 7 protein; FUNCTION: Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF- alpha) gene expression. SUBUNIT: Interacts with NEDD4 (By similarity). Interacts with WWOX. Isoform 2 may interact with STAT6. INTERACTION: P46934:NEDD4; NbExp=4; IntAct=EBI-725647, EBI-726944; Q99816:TSG101; NbExp=3; IntAct=EBI-725647, EBI-346882; SUBCELLULAR LOCATION: Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associated with membranes of lysosomes. TISSUE SPECIFICITY: Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen. INDUCTION: By bacterial lipopolysaccharides (LPS) or p53/TP53. In monocytes by the Bacillus Calmette-Guerin (BCG). DOMAIN: The WW-binding motif mediates interaction with WWOX and, probably NEDD4. DISEASE: Defects in LITAF are the cause of Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]. CMT1C is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. DISEASE: Note=Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation. WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LITAF";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99732
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0005515 protein binding GO:0008270 zinc ion binding GO:0046872 metal ion binding GO:0050699 WW domain binding
Biological Process: GO:0001817 regulation of cytokine production GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0007568 aging GO:0032496 response to lipopolysaccharide GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0071222 cellular response to lipopolysaccharide GO:1901223 negative regulation of NIK/NF-kappaB signaling