LRSAM1

Chr 9q33.3-q34.11

leucine rich repeat and sterile alpha motif containing 1

Aliases:: FLJ31641, CMT2P, RIFLE, TAL
MANE:: ENST00000300417.11

OMIM: 610933 ↗NCBI: 90678 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LRSAM1 · Q6UWE0

v62025-08-01

Predicted Aligned Error matrix for LRSAM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

723 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)54%
Low(50–70)10%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease axonal type 2P
0.79
hereditary disease
0.52
Charcot-Marie-Tooth disease
0.52
schwannomatosis
0.33
LZTR1-related schwannomatosis
0.33
headache disorder
0.25
Charcot-Marie-Tooth disease type 4
0.11
Charcot-Marie-Tooth disease type 1
0.11
hepatocellular carcinoma
0.07
benign adult familial myoclonic epilepsy
0.06

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

Protein function (UniProt)

E3 ubiquitin-protein ligase LRSAM1

E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098)