Human Gene LRSAM1 (ENST00000323301.8) Description and Page Index
Description: Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 1, mRNA. (from RefSeq NM_138361) RefSeq Summary (NM_138361): This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]. Gencode Transcript: ENST00000323301.8 Gencode Gene: ENSG00000148356.13 Transcript (Including UTRs) Position: hg38 chr9:127,451,513-127,503,499 Size: 51,987 Total Exon Count: 25 Strand: + Coding Region Position: hg38 chr9:127,454,528-127,502,899 Size: 48,372 Coding Exon Count: 24
ID:LRSM1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase LRSAM1; EC=6.3.2.-; AltName: Full=Leucine-rich repeat and sterile alpha motif-containing protein 1; AltName: Full=Tsg101-associated ligase; Short=hTAL; 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. SUBUNIT: Interacts with TSG101. SUBCELLULAR 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. DOMAIN: The coiled coil domains interact with the SB domain of TSG101. DOMAIN: The PTAP motifs mediate the binding to UEV domains. DISEASE: Defects in LRSAM1 are a cause of Charcot-Marie-Tooth disease type 2P (CMT2P) [MIM:614436]. CMT2P is 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. SIMILARITY: Contains 6 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 RING-type zinc finger. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6UWE0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.