Sequence in raw or FASTA format:
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 [Homo sapiens (human)]
|Entrez Gene ID||378884|
|Full Name||NHL repeat containing E3 ubiquitin protein ligase 1|
|Synonyms||EPM2A, EPM2B, MALIN, bA204B7.2|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
|hsa04120||Ubiquitin mediated proteolysis|
|REACT_474||Metabolism of carbohydrates|
|REACT_200783||Myoclonic epilepsy of Lafora|
|REACT_200833||Glycogen storage diseases|
|Homo sapiens (human)||NHLRC1||NP_940988.2|
|Pan troglodytes (chimpanzee)||NHLRC1||XP_001170828.1|
|Macaca mulatta (Rhesus monkey)||NHLRC1||XP_001097330.1|
|Canis lupus familiaris (dog)||NHLRC1||NP_001006650.1|
|Bos taurus (cattle)||NHLRC1||XP_002697596.1|
|Mus musculus (house mouse)||Nhlrc1||NP_780549.1|
|Rattus norvegicus (Norway rat)||Nhlrc1||NP_954706.1|
|Gallus gallus (chicken)||NHLRC1||XP_426034.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||nhlrc1||XP_002932735.1|
|GO:0005975||carbohydrate metabolic process||TAS|
|GO:0005978||glycogen biosynthetic process||TAS|
|GO:0006006||glucose metabolic process||TAS|
|GO:0031398||positive regulation of protein ubiquitination||IEA|
|GO:0043161||proteasome-mediated ubiquitin-dependent protein catabolic process||IDA|
|GO:0044281||small molecule metabolic process||TAS|
|GO:0048471||perinuclear region of cytoplasm||IEA|
|GO:0004842||ubiquitin-protein transferase activity||IDA|
|GO:0008270||zinc ion binding||IEA|
What is the normal function of the NHLRC1 gene?
The NHLRC1 gene provides instructions for making a protein called malin. Although this protein is active in cells throughout the body, it appears to play a critical role in the survival of nerve cells (neurons) in the brain.
Malin is part of the cell machinery that breaks down (degrades) unwanted proteins within cells. The protein tags damaged and excess proteins with a molecule called ubiquitin, which serves as a signal to degrade these proteins. This process, which is known as the ubiquitin-proteasome system, acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. Malin belongs to a group of proteins in the ubiquitin-proteasome system called E3 protein-ubiquitin ligases.
Malin targets several proteins for degradation, including laforin (which is produced from the EPM2A gene). The interaction between malin and laforin likely plays a critical role in regulating the production of a complex sugar called glycogen. Glycogen is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Researchers believe that malin and laforin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system.
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