LRSAM1

E3 ubiquitin-protein ligase LRSAM1, previously known as Tsg101-associated ligase (Tal), is an enzyme that in humans is encoded by the LRSAM1 gene.^[5][6]

LRSAM1
Identifiers
Aliases	LRSAM1, CMT2P, RIFLE, TAL, leucine rich repeat and sterile alpha motif containing 1
External IDs	OMIM: 610933; MGI: 2684789; HomoloGene: 44526; GeneCards: LRSAM1; OMA:LRSAM1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q33.3-q34.11 Start 127,451,489 bp[1] End 127,503,499 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 32,815,228 bp[2] End 32,851,626 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart sural nerve skin of leg skin of abdomen left ventricle right hemisphere of cerebellum right frontal lobe muscle layer of sigmoid colon anterior cingulate cortex Brodmann area 9 Top expressed in Hypothalamus granulocyte placenta white adipose tissue neural layer of retina cerebellar cortex quadriceps femoris muscle skeletal muscle tissue olfactory bulb Mesencephalon More reference expression data BioGPS n/a
Gene ontology Molecular function ubiquitin protein ligase activity metal ion binding ubiquitin-protein transferase activity protein binding transferase activity volume-sensitive anion channel activity Cellular component cytoplasm membrane cytosol plasma membrane ion channel complex Biological process negative regulation of endocytosis positive regulation of autophagosome assembly protein polyubiquitination positive regulation of xenophagy viral budding autophagy protein catabolic process protein ubiquitination protein transport ubiquitin-dependent endocytosis protein autoubiquitination signal transduction anion transmembrane transport inorganic anion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 90678 227738 Ensembl ENSG00000148356 ENSMUSG00000026792 UniProt Q6UWE0 Q80ZI6 RefSeq (mRNA) NM_001005373 NM_001005374 NM_001190723 NM_138361 NM_001384142 NM_001384143 NM_001384144 NM_199302 NM_001379439 NM_001379440 NM_001379441 NM_001379442 NM_001379443 RefSeq (protein) NP_001005373 NP_001005374 NP_001177652 NP_612370 NP_001371071 NP_001371072 NP_001371073 NP_955006 NP_001366368 NP_001366369 NP_001366370 NP_001366371 NP_001366372 Location (UCSC) Chr 9: 127.45 – 127.5 Mb Chr 2: 32.82 – 32.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical significance

Mutations in LRSAM1 have been reported in the peripheral neuropathy Charcot-Marie-Tooth type 2P (OMIM 614436),^[7][8][9] while disruption of the mouse Lrsam1 gene has been shown to sensitize peripheral axons to acrylamide-induced degeneration.^[10]

Interactions

LRSAM1 has been shown to interact with TSG101.^[11][12]