Homo sapiens Gene: LRSAM1
Summary
InnateDB Gene IDBG-85979.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LRSAM1
Gene Name leucine rich repeat and sterile alpha motif containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000148356
Encoded Proteins
leucine rich repeat and sterile alpha motif containing 1
leucine rich repeat and sterile alpha motif containing 1
leucine rich repeat and sterile alpha motif containing 1
leucine rich repeat and sterile alpha motif containing 1
Protein Structure
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 9:127451486-127503501
Strand Forward strand
Band q33.3
Transcripts
ENST00000373324 ENSP00000362421
ENST00000323301 ENSP00000322937
ENST00000300417 ENSP00000300417
ENST00000373322 ENSP00000362419
ENST00000486587
ENST00000485704
ENST00000498513
ENST00000483302
ENST00000472068
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Adaptive Immune System pathway
Immune System pathway
Antigen processing: Ubiquitination & Proteasome degradation pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q6UWE0
TrEMBL A0A024R870
UniProt Splice Variant
Entrez Gene 90678
UniGene Hs.495188
RefSeq NM_001005373 NM_001005374 NM_001190723 NM_138361
HUGO HGNC:25135
OMIM 610933
CCDS CCDS55347 CCDS6873
HPRD 14325
IMGT
EMBL AK056203 AK056305 AK091589 AL445222 AY358830 BC009239 CH471090
GenPept AAH09239 AAQ89189 BAB71119 BAB71144 BAC03703 CAH72930 CAH72931 EAW87671 EAW87672 EAW87673
ImmGen LRSAM1 (murine)
RNA Seq Atlas 90678