1. Gene
  2. NHLRC1 - NHL repeat containing E3 ubiquitin protein ligase 1 Gene

NHLRC1 - NHL repeat containing E3 ubiquitin protein ligase 1 Gene

Homo sapiens

Also known as EPM2A; EPM2B; MALIN; bA204B7.2

Gene ID: 378884 | Gene type: protein coding

About NHLRC1

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:18,120,440-18,122,677 (from NCBI)

This gene has 1 transcript (splice variant), 165 orthologues and is associated with 2 phenotypes.

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]

NHLRC1 Products(1)

mRNA Protein Name
NM_198586.3 NP_940988.2 E3 ubiquitin-protein ligase NHLRC1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15930137 GOA
enables ubiquitin-protein transferase activity EXP
EXP: Inferred from Experiment
15930137 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
15930137 GOA
Biological Process GO Annotation Evidence Reference Source
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
15930137 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
15930137 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
17908927 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NHLRC1 Protein Structure

zf-RING_5

zf-RING_5: zinc-RING finger domain (25 - 73)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase NHLRC1

NHL repeat containing 1

NHLRC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Cross
NHLRC1 Q6VVB1 Epm2a Mus musculus Q9WUA5
Anti Tag CoIP
22578008
Cross
NHLRC1 Q6VVB1 Epm2a Mus musculus Q9WUA5
Affinity Chrom
22578008
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278
Pull Down
15930137
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278
Anti Tag CoIP
15930137
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278
Ubiquitinase Assay
15930137
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278
Anti Tag CoIP
33961781
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278
Y2H
15930137
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Myoclonus
Neuroleptic Malignant Syndrome
Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive

Progressive Myoclonus Epilepsy 10

Early-Onset Lafora Body Disease

Epm10

Myoclonus Epilepsy

Epilepsies, Myoclonic

Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6

Epm6

Gosr2-Related Progressive Myoclonus Ataxia

North Sea Progressive Myoclonus Epilepsy

Pme Type 6

Progressive Myoclonus Epilepsy Type 6

Epilepsy, Progressive Myoclonic, 6

Status Epilepticus

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus

Glycogen Storage Disease Iv

Gsd Iv

Glycogen Branching Enzyme Deficiency

Andersen Disease

Amylopectinosis

Glycogen Storage Disease Type Iv

GSD4

Brancher Deficiency

Glycogen Storage Disease, Type Iv

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gbe1 Deficiency

Glycogenosis Iv

Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

Glycogen Storage Disease Type 4

Glycogenosis 4

Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

Andersen'S Disease

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Brancher Deficiency Glycogenosis

Branching-Transferase Deficiency Glycogenosis

Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

Andersen-Tawil Syndrome

Gsd 4

Andersen Cardiodysrhythmic Periodic Paralysis

Lqt7

Long Qt Syndrome 7

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Andersen Glycogenosis

Branching Enzyme Deficiency

Glycogenosis, Type Iv

Gsd Type Iv

Type Iv Glycogenosis

Gbe Deficiency, Childhood Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Gsd Type 4, Childhood Neuromuscular Form

Gsdiv, Childhood Neuromuscular Form

Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogenosis Type 4, Childhood Neuromuscular Form

Glycogenosis Type Iv, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gbe Deficiency, Adult Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Type 4, Adult Neuromuscular Form

Gsdiv, Adult Neuromuscular Form

Glycogen Storage Disease Type 4, Adult Neuromuscular Form

Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Glycogenosis Type 4, Adult Neuromuscular Form

Glycogenosis Type Iv, Adult Neuromuscular Form

Gbe Deficiency, Congenital Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gsd Type 4, Congenital Neuromuscular Form

Gsdiv, Congenital Neuromuscular Form

Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogenosis Type 4, Congenital Neuromuscular Form

Glycogenosis Type Iv, Congenital Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

Gsdiv, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Type 4, Fatal Perinatal Neuromuscular Form

Gsdiv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gbe Deficiency, Non Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Type 4, Non Progressive Hepatic Form

Gsdiv, Non Progressive Hepatic Form

Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Glycogenosis Type 4, Non Progressive Hepatic Form

Glycogenosis Type Iv, Non Progressive Hepatic Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gbe Deficiency, Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gsd Type 4, Progressive Hepatic Form

Gsdiv, Progressive Hepatic Form

Glycogen Storage Disease Type 4, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogenosis Type 4, Progressive Hepatic Form

Glycogenosis Type Iv, Progressive Hepatic Form

Glycogen Storage Disease 4

Gsd-Iv

Storage Disease, Glycogen, Type Iv

Neonatal Period Electroclinical Syndrome
Glycoproteinosis

Sialidosis

Mucolipidosis Type I

Mucolipidoses

Cherry Red Spot Myoclonus Syndrome

Mucolipidosis I

Myoclonus Cherry Red Spot Syndrome

Type I Mucolipidosis

Lipomucopolysaccharidosis

Disorders Of Glycoprotein Metabolism

Glycoprotein Storage Disorder

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome

Amrf

Epm4

Myoclonus-Nephropathy Syndrome

Capillary Malformations, Congenital

Familial Multiple Nevi Flammei

Nevi Flammei, Familial Multiple

CMC

Port-Wine Stain

Capillary Malformations

Cmal

Familial Multiple Port-Wine Stains

Capillary Malformation

Capillary Malformations, Congenital, 1, Somatic, Mosaic

Congenital Capillary Malformations

Port-Wine Stain Familial Multiple

Hereditary Capillary Malformations

Capillary Malformations, Hereditary

Capillary Malformations, Congenital, Type 1, Somatic, Mosaic

Strawberry Nevus Of Skin

Naevus Flammeus

Photosensitive Epilepsy

Pse

Photogenic Epilepsy

Photoparoxysmal Response

Reflex Epilepsy, Photosensitive

Photoparoxysmal Response 1

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NHLRC1 RGD RGD:735081
Macaca mulatta NHLRC1 VGNC VGNC:75229
Bos taurus NHLRC1 VGNC VGNC:32067
Felis catus NHLRC1 VGNC VGNC:63796
Mus musculus NHLRC1 MGD MGI:2145264
Canis familiaris NHLRC1 VGNC VGNC:43800