InnateDB: Systems Biology of the Innate Immune Response

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

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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

ENSMUSG00000026792

View Gene Order

ENSBTAG00000012844

Not yet available

Pathways

NETPATH

REACTOME

REACT_75842

Antigen processing: Ubiquitination & Proteasome degradation pathway

REACT_75774

Adaptive Immune System pathway

REACT_6900

Immune System pathway

REACT_75820

Class I MHC mediated antigen processing & presentation pathway

KEGG

INOH

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

CCDS6873 CCDS55347

HPRD

14325

IMGT

EMBL

AK056203 AK056305 AK091589 AL445222 AY358830 BC009239 CH471090

GenPept

AAH09239 AAQ89189 BAB71119 BAB71144 BAC03703 CAH72930 CAH72931 EAW87671 EAW87672 EAW87673

RNA Seq Atlas

90678