NHL Repeat Containing Protein 1 (NHLRC1)

The NHLRC1 gene encodes malin, a single subunit E3 ubiquitin (UBB) ligase, which contains a RING-HC-type zinc finger and 6 NHL domains and is subclassified as a member of the RING-HCa family.The gene is predicted to encode a 395-amino acid protein, termed malin ('mal' for seizure in French), containing a zinc finger of the RING type and 6 NHL-repeat protein-protein interaction domains. The presence of the RING finger predicts an E3 ubiquitin ligase function. Northern blot analysis indicated 2 transcripts of 1.5 kb and 2.4 kb in all tissues examined, including multiple subregions of the brain. In cultured cells, malin was localized at the endoplasmic reticulum and, to a lesser extent, in the nucleus. These results were similar to those observed for laforin (EPM2A).