Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LITAF contributors: mct - updated : 10-07-2018
HGNC name lipopolysaccharide-induced TNF factor
HGNC id 16841
Corresponding disease
CMT1C Charcot-Marie-Tooth disease, demyelinating, type 1C
Location 16p13.13      Physical location : 11.641.581 - 11.681.322
Synonym name
  • small integral membrane protein of lysosome/late endosome
  • tumor protein p53 inducible protein 7
  • Synonym symbol(s) PIG7, CMT1C, SIMPLE, TP53I7, FLJ38636, MGC116698, MGC116700, MGC116701
    DNA
    TYPE functioning gene
    STRUCTURE 39.74 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2642 - 161 - 2003 12655064
    4 - 2479 - 161 - 2003 12655064
    5 - 2577 - 152 - 2003 12655064
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineadrenal gland   highly
    Lymphoid/Immunespleen   predominantly
    Nervousnervespinal nerve  highly Homo sapiens
    Reproductivefemale systemuteruscervix highly
     male systemprostate   
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchawnn cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus containing two PPXY motifs that mediate protein-protein interactions with WW-domain containing proteins
  • a PPXY motif
  • P(S/T)AP motifs
  • a transmembrane domain (TMD) embedded within the cysteine-rich (C-rich) region that anchors LITAF to the membrane
  • C-terminus containing a highly conserved domain termed the SIMPLE-like domain (SLD)
  • both the N- and C-termini of LITAF are exposed to the cytoplasm
  • mono polymer aggregate
    HOMOLOGY
    interspecies homolog to murine Litaf
    homolog to xenopus Xl.21754
    Homologene
    FAMILY
  • RING finger motif-containing subfamily of E3 ubiquitin ligases
  • LITAF family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • LITAF mutants A111G, G112S, W116G, and T115N mislocalize from the late endosome/lysosome to the mitochondria while the mutants T49M, L122V, and P135T show partial mislocalization with a portion of the total protein present in the late endosome/lysosome and the remainder of the protein localized to the mitochondria
  • basic FUNCTION
  • playing an important role in the regulation of tumor necrosis factor alpha (TNFA)
  • may be clathrin adaptor aiding in the retention of ubiquitinated proteins on to the endosomes
  • E3 ubiquitin ligase playing a role in protein degradation
  • multiple functional molecule whose sequence is identical to the small integral membrane protein of the lysosome/late endosome
  • mediates the effect of AMPK by binding to a specific sequence in the promoter region
  • may function as a tumor suppressor
  • is a post-translationally inserted, C-tail-anchored membrane protein
  • transcription factor that mediates TNF1 expression (
  • LITAF function is not absolutely required for peripheral nerve development and maintenance
  • function of LITAF as a regulator of endosomal trafficking, providing evidence linking dysregulated endosomal trafficking to CMT pathogenesis
  • LITAF traffics through the secretory pathway to the late endosome/lysosome
  • is a novel player in multivesicular bodies (MVBs) regulation
  • is an endosome-associated integral membrane protein important for multivesicular body sorting
  • is a monotopic membrane protein whose membrane integration is stabilised by a zinc finger
  • CELLULAR PROCESS nucleotide, transcription, regulation
    protein, degradation
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component LITAF forms a complex with human STAT6, which translocates into the nucleus to upregulate cytokine transcription (
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding with TNF
  • ITCH, a WW-domain containing protein, and LITAF strongly interact and this interaction depends on the two PPXY motifs in the N-terminus of LITAF
  • LITAF interacted and colocalized with endosomal
  • complex required for transport (ESCRT) components STAM, HGS, and TSG101 on early endosomes and functioned with the ESCRT machinery in the control of endosome-to-lysosome trafficking
  • BCL6-mediated transcriptional repression of LITAF may inhibit autophagy in B cells during the germinal centre reaction sorting
  • TWIST1-binding sequences associated with CHST11, LITAF, ROR2, and SPATA5 also bound the potential TWIST1 cofactor RREB1
  • cell & other
    REGULATION
    activated by AMPK (AMPK activation upregulates the transcription of LITAF)
    induced by by lipopolysaccharides (lps) or TP53
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT1C
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    silenced by promoter hypermethylation in germinal centre-derived B-cell lymphomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS