Version 5.4
Bos taurus Gene: NHLRC1
Summary
InnateDB Gene IDBG-647126.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NHLRC1
Gene Name Uncharacterized protein
Synonyms malin-like
Species Bos taurus
Ensembl Gene ENSBTAG00000012087
Encoded Proteins
IDBP-699974
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 23:39239186-39240382
Strand Forward strand
Band
Transcripts
ENSBTAT00000016029 ENSBTAP00000016029
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding
Biological Process
GO:0000209 protein polyubiquitination
GO:0031398 positive regulation of protein ubiquitination
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000187566
View Gene Order
ENSMUSG00000044231
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_169208
Glycogen synthesis pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_111217
Metabolism pathway
REACT_116125
Disease pathway
REACT_723
Glucose metabolism pathway
REACT_200833
Glycogen storage diseases pathway
REACT_189085
Disease pathway
REACT_261601
Glucose metabolism pathway
REACT_188937
Metabolism pathway
REACT_188939
Glycogen synthesis pathway
REACT_203949
Glycogen storage diseases pathway
REACT_203841
Myoclonic epilepsy of Lafora pathway
REACT_248571
Metabolism of carbohydrates pathway
KEGG
hsa04120
Ubiquitin mediated proteolysis pathway
mmu04120
Ubiquitin mediated proteolysis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq XM_002697550 XM_582943
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca