InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nhlrc1

Summary

InnateDB Gene

IDBG-148920.6

Last Modified

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

Gene Symbol

Nhlrc1

Gene Name

NHL repeat containing 1

Synonyms

AI505271; B230309E09Rik; EPM2B

Species

Mus musculus

Ensembl Gene

ENSMUSG00000044231

Encoded Proteins

IDBP-148922

NHL repeat containing 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000187566:
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 13:47012558-47014850

Strand

Reverse strand

Band

Transcripts

ENSMUST00000052747

ENSMUSP00000054990

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

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

Biological Process

GO:0000209	protein polyubiquitination
GO:0006914	autophagy
GO:0031398	positive regulation of protein ubiquitination
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process