NHLRC1 - NHL repeat containing E3 ubiquitin protein ligase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 378884

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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 References
Cross
NHLRC1 Q6VVB1 Epm2a Mus musculus Q9WUA5 22578008
Cross
NHLRC1 Q6VVB1 Epm2a Mus musculus Q9WUA5 22578008
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278 15930137
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278 15930137
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278 15930137
Intra
NHLRC1 Q6VVB1 EPM2A Homo sapiens O95278 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
Others NHLRC1 NCBI