Homo sapiens Gene: LRSAM1

Summary
InnateDB Gene IDBG-85979.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol LRSAM1
Gene Name leucine rich repeat and sterile alpha motif containing 1
Synonyms CMT2P; RIFLE; TAL
Species Homo sapiens
Ensembl Gene ENSG00000148356
Encoded Proteins
IDBP-85981 leucine rich repeat and sterile alpha motif containing 1
IDBP-85983 leucine rich repeat and sterile alpha motif containing 1
IDBP-85985 leucine rich repeat and sterile alpha motif containing 1
IDBP-85987 leucine rich repeat and sterile alpha motif containing 1
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9: 130213765-130265780
Strand Forward strand
Band q33.3
Transcripts
ENST00000373324  ENSP00000362421
ENST00000323301  ENSP00000322937
ENST00000300417  ENSP00000300417
ENST00000373322  ENSP00000362419
ENST00000486587 
ENST00000485704 
ENST00000498513 
ENST00000483302 
ENST00000472068 
ENST00000461164 
ENST00000472592 
ENST00000476755 
ENST00000479957 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 45 [view]
Protein‑Protein  44
[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
Accession GO Term
Molecular Function
GO:0004842 ubiquitin-protein ligase activity
GO:0005179 hormone activity
GO:0005351 sugar:hydrogen symporter activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0008965 phosphoenolpyruvate-protein phosphotransferase activity
Biological Process
GO:0000209 protein polyubiquitination
GO:0009401 phosphoenolpyruvate-dependent sugar phosphotransferase system
GO:0015031 protein transport
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:0044425 membrane part
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000026792 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000012844 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q6UWE0 
TrEMBL
UniProt Splice Variant
Entrez Gene 90678 
UniGene Hs.495188
RefSeq NM_001005373  NM_001005374  NM_001190723  NM_138361 
HUGO 25135 
OMIM 610933
CCDS CCDS55347  CCDS6873 
HPRD 14325
IMGT
EMBL AK056203 AK056305 AK091589 AL445222 AY358830 BC009239
GenPept AAH09239  AAQ89189  BAB71119  BAB71144  BAC03703  CAH72930  CAH72931 
ImmGen LRSAM1 (murine) 
RNA Seq Atlas 90678