E3 ubiquitin-protein ligase LRSAM1; EC=6.3.2.-; leucine-rich repeat & sterile alpha motif-containing protein 1; Tsg101-associated ligase; hTAL (LRSAM1, TAL, UNQ6496/PRO21356)

Function

• E3 ubiquitin-protein ligase
• mediates monoubiquitination of TSG101 at multiple sites, inhibiting ability of TSG101 to sort endocytic (EGF receptors) & exocytic (HIV-1 viral proteins) cargos
• protein modification; protein ubiquitination
• interacts with TSG101

Structure

• the coiled coil domains interact with the SB domain of TSG101
• the PTAP motifs mediate the binding to UEV domains
• contains 6 LRR repeats (leucine-rich repeats)
• contains 1 RING-type Zn+2 finger
• contains 1 SAM (sterile alpha motif) domain

Compartment

• cytoplasm
• displays a punctuate distribution & localizes to a submembranal ring

Alternative splicing

named isoforms=3

Expression

• highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord & muscle tissue

Pathology

• defects in LRSAM1 are a cause of Charcot-Marie-Tooth disease type 2P

More general terms

• E3 ubiquitin ligase
• leucine-rich repeat-containing protein (LRRC)
• ring finger protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=90678
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:90678
• OMIM: https://mirror.omim.org/entry/610933
• OMIM: https://mirror.omim.org/entry/614436
• UniProt: http://www.uniprot.org/uniprot/Q6UWE0.html