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NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_198586 Homo sapiens NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1), mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

Related Services

Gene Symbol NHLRC1
Entrez Gene ID 378884
Full Name NHL repeat containing E3 ubiquitin protein ligase 1
Synonyms EPM2A, EPM2B, MALIN, bA204B7.2
General protein information
Preferred Names
E3 ubiquitin-protein ligase NHLRC1
Names
E3 ubiquitin-protein ligase NHLRC1
NHL repeat-containing protein 1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p22.3

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].
Disorder

MIM: 608072

Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)

mRNA Protein Product Sequence Price Select
NM_198586, 40255282 NP_940988, 40255283 E3 ubiquitin-protein ligase NHLRC1 ORF Sequence $400.00
KEGG
hsa04120Ubiquitin mediated proteolysis
Reactome
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_169208Glycogen synthesis
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)NHLRC1NP_940988.2
Pan troglodytes (chimpanzee)NHLRC1XP_001170828.1
Macaca mulatta (Rhesus monkey)NHLRC1XP_001097330.1
Canis lupus familiaris (dog)NHLRC1NP_001006650.1
Bos taurus (cattle)NHLRC1XP_002697596.1
Mus musculus (house mouse)Nhlrc1NP_780549.1
Rattus norvegicus (Norway rat)Nhlrc1NP_954706.1
Gallus gallus (chicken)NHLRC1XP_426034.2
Xenopus (Silurana) tropicalis (western clawed frog)nhlrc1XP_002932735.1
Process
IDNameEvidence
GO:0000209protein polyubiquitinationIDA
GO:0005975carbohydrate metabolic processTAS
GO:0005978glycogen biosynthetic processTAS
GO:0006006glucose metabolic processTAS
GO:0006914autophagyIEA
GO:0031398positive regulation of protein ubiquitinationIEA
GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic processIDA
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005783endoplasmic reticulumIEA
GO:0005829cytosolTAS
GO:0048471perinuclear region of cytoplasmIEA
Function
IDNameEvidence
GO:0004842ubiquitin-protein transferase activityIDA
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0016874ligase activityIEA
GeneCards NHLRC1
UniProt Q6VVB1
Vega OTTHUMG00000014315
MIM 608072
Ensembl ENSG00000187566
HGNC 21576
HPRD 06995

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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