InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRSAM1

Summary

InnateDB Protein

IDBP-85983.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRSAM1

Protein Name

leucine rich repeat and sterile alpha motif containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000322937

InnateDB Gene

IDBG-85979 (LRSAM1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15256501}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15256501}. Note=Displays a punctuate distribution and localizes to a submembranal ring.

Disease Associations

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. {ECO:0000269PubMed:20865121, ECO:0000269PubMed:22012984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue. {ECO:0000269PubMed:22012984}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	51 [view]
Protein-Protein	50 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0005179	hormone activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity

Biological Process

GO:0000209	protein polyubiquitination
GO:0008219	cell death
GO:0009401	phosphoenolpyruvate-dependent sugar phosphotransferase system
GO:0030163	protein catabolic process
GO:0045806	negative regulation of endocytosis
GO:0046755	non-lytic virus budding
GO:0051865	protein autoubiquitination
GO:0070086	ubiquitin-dependent endocytosis

Cellular Component

GO:0005576	extracellular region
GO:0005737	cytoplasm
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001611 Leucine-rich repeat
IPR001660 Sterile alpha motif domain
IPR001841 Zinc finger, RING-type
IPR003591 Leucine-rich repeat, typical subtype
IPR008731 Phosphotransferase system, enzyme I N-terminal
IPR011510 Sterile alpha motif, type 2
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1

PFAM