RBCC Red Blood Cell Collection

LRSM1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: LRSAM1 , TAL , UNQ6496/PRO21356
Protein names and data: LRSM1_HUMAN , E3 ubiquitin-protein ligase LRSAM1; 6.3.2.- , Leucine-rich repeat and sterile alpha motif-containing protein 1; Tsg101-associated ligase; hTAL Lenght: 723 a.a.
Mass: 83594 Da
fasta formatted sequence
Function: 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.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 610933 614436 ) Charcot-Marie-Tooth disease 2P (CMT2P) [MIM:614436]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Note=Displays a punctuate distribution and localizes to a submembranal ring.
Tissue specificity: Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue.

Genetic variants

318 - 318 N -> D (in dbSNP:rs1539567). VAR_021051 1539567

Database cross-references

UniProt: Q6UWE0
Ensembl: ENST00000300417
Ensembl: ENST00000323301
Ensembl: ENST00000373322
Ensembl: ENST00000373324
MIM: 610933
MIM: 614436
neXtProt: NX_Q6UWE0
Antibodypedia: Q6UWE0 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2