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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu18073 NM_198586 Homo sapiens NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1), mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu18073C NM_198586 Homo sapiens NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1), mRNA. Customized vector On-demand 7-9 $269.00

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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?

Interactant

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