Sequence Detail

ID/Version

Q8BR37 (UniProt | EBI)

Last sequence update: 2003-03-01
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=E3 ubiquitin-protein ligase NHLRC1; EC=2.3.2.27;AltName: Full=Malin;AltName: Full=NHL repeat-containing protein 1;AltName: Full=RING-type E3 ubiquitin transferase NHLRC1 {ECO:0000305};

Provider

SWISS-PROT

Sequence

Polypeptide 401 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Nhlrc1	NHL repeat containing 1	41	96	2	10

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:181559 Criado O, et al., Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy. Hum Mol Genet. 2012 Apr 1;21(7):1521-33
J:181674 Turnbull J, et al., Glycogen hyperphosphorylation underlies lafora body formation. Ann Neurol. 2010 Dec;68(6):925-33
J:274442 Tiberia E, et al., Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease. J Biol Chem. 2012 Jul 20;287(30):25650-9