NHLRC1
Sign in to saveAlso known as EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.
In the Vinony graph
Vinony's link graph records 4 inbound references to NHLRC1, and connects out to PubMed, human chromosome 6 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 6.
Vinony links it to 6 Wikipedia language editions.
Gene data
NHLRC1- Name
- NHL repeat containing E3 ubiquitin protein ligase 1
- Type
- protein-coding
- Position
- 18,120,440–18,122,677 (−)
- Aliases
- EPM2B, MALIN, MELF2, bA204B7.2
- Ensembl
- ENSG00000187566
- RefSeq RNA
- NM_198586.3
- RefSeq protein
- NP_940988.2
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NHL repeat containing E3 ubiquitin protein ligase 1
- Symbol
- NHLRC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:18,120,440-18,122,677
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 18439
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/378884
- chromosome
- human chromosome 6
- genomic start
- 18120440
- genomic end
- 18122677
- cytogenetic location
- 6p22.3
- genetic association
- Lafora disease
Sources (7)
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- See also
- References
- Further reading
- External links
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.
==See also== NHL repeat
Excerpted from Wikipedia’s “NHLRC1” article, available under the CC BY-SA 4.0 licence.