lipopolysaccharide-induced tumor necrosis factor-alpha factor (LPS-induced TNF-alpha factor, p53-induced protein 7, small integral membrane protein of lysosome/late endosome, LITAF, PIG7, SIMPLE)

Function

• role in regulating transcription of specific genes
  • expression of chemokine CCL2/MCP-1 via NFKB1
  • expression of tumor necrosis factor alpha (TNF-alpha)
• interacts with NEDD4, WWOX via WW-binding motif
• isoform 2 may interact with STAT6
• induced by lipopolysaccharides (LPS) or p53
• in monocytes induced by Bacillus Calmette-Guerin (BCG)

Compartment

• lysosomal membrane, plasma membrane (cytoplasmic side)

Alternative splicing

named isoforms=2

Expression

• ubiquitously & abundantly expressed
• expressed in placenta, peripheral blood leukocytes, lymph nodes, spleen

Pathology

• defects associated with Charcot-Marie-Tooth disease type 1C (CMT1C)
• defects associated with extramammary Paget disease

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/601098
• OMIM: https://mirror.omim.org/entry/603795
• UniProt: http://www.uniprot.org/uniprot/Q99732.html