Homo sapiens Gene: NHLRC1
Summary
InnateDB Gene IDBG-63831.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NHLRC1
Gene Name NHL repeat containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187566
Encoded Proteins
NHL repeat containing 1
Protein Structure
Entrez Gene
Summary 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 6:18121419-18122606
Strand Reverse strand
Band p22.3
Transcripts
ENST00000340650 ENSP00000345464
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
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:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
Biological Process
GO:0000209 protein polyubiquitination
GO:0005975 carbohydrate metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006006 glucose metabolic process
GO:0006914 autophagy
GO:0031398 positive regulation of protein ubiquitination
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
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
Myoclonic epilepsy of Lafora pathway
Glycogen synthesis pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
Ubiquitin mediated proteolysis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q6VVB1
TrEMBL
UniProt Splice Variant
Entrez Gene 378884
UniGene Hs.348351
RefSeq NM_198586
HUGO HGNC:21576
OMIM 608072
CCDS CCDS4542
HPRD 06995
IMGT
EMBL AL589723 AY324850 BC103888 BC103889 BC103890 BK001510
GenPept AAI03889 AAI03890 AAI03891 AAQ19671 CAH71232 DAA01954
ImmGen NHLRC1 (murine)
RNA Seq Atlas 378884