LITAF

Chr 16p13.13

lipopolysaccharide induced TNF factor

Aliases:: PIG7, SIMPLE, FLJ38636, TP53I7
MANE:: ENST00000622633.5

OMIM: 603795 ↗NCBI: 9516 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LITAF · Q99732

v62025-08-01

Predicted Aligned Error matrix for LITAF — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.6/ 100

Low

161 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)27%
Low(50–70)21%
Very low(< 50)27%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 1C
0.77
Charcot-Marie-Tooth disease
0.53
inflammatory bowel disease
0.42
hereditary disease
0.41
Crohn disease
0.36
cholelithiasis
0.36
alcohol drinking
0.34
ulcerative colitis
0.31
acute tonsillitis
0.29
liver disorder
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lipopolysaccharide-induced tumor necrosis factor-alpha factor

Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps down-regulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005)