PNKD - PNKD metallo-beta-lactamase domain containing Gene

Also Known as R1; MR1; PDC; DYT8; FPD1; MR-1; BRP17; MR-1S; PKND1; PNKD1; FKSG19; TAHCCP2; KIPP1184

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25953

About PNKD

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:218,270,519-218,346,793 (from NCBI)

This gene has 21 transcripts (splice variants), 197 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 19.3), kidney (RPKM 16.6) and 25 other tissues.

Summary

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

PNKD Products (3)

mRNA	Protein	Name
NM_001077399.3	NP_001070867.1	probable hydrolase PNKD isoform 3 precursor
NM_015488.5	NP_056303.3	probable hydrolase PNKD isoform 1 precursor
NM_022572.4	NP_072094.1	probable hydrolase PNKD isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25066297	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of neurotransmitter secretion	IMP IMP: Inferred from mutant phenotype	25730884	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	22214848	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

PNKD Protein Structure

Lactamase_B

0
100
200
300
385 a.a.

Protein Preferred Names	Protein Names
probable hydrolase PNKD	PNKD, MBL domain containing

PNKD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PNKD	Q8N490	MAGEA11	Homo sapiens	P43364-2	Validated Y2H	25416956
Intra	PNKD	Q8N490	MAGEA11	Homo sapiens	P43364-2	Y2H Prey Pooling	25416956
Intra	PNKD	Q8N490	MAGEA11	Homo sapiens	G5E962	Validated Y2H	25910212
Intra	PNKD	Q8N490	MAGEA11	Homo sapiens	G5E962	Y2H Array	25910212
Intra	PNKD	Q8N490	MAGEA11	Homo sapiens	G5E962	Y2H Bait-Prey Pool	25910212
Intra	PNKD	Q8N490	KCTD9	Homo sapiens	Q7L273	Y2H Prey Pooling	25416956
Intra	PNKD	Q8N490	MAPK3	Homo sapiens	P27361	Anti Tag CoIP	25066297

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal Dystonic Choreoathetosis Mount-Reback Syndrome PNKD1 Pdc Fpd1 Dystonia 8 DYT8 Choreoathetosis, Familial Paroxysmal Choreoathetosis, Nonkinesigenic Choreoathetosis Familial Paroxysmal Choreoathetosis Nonkinesigenic Dystonia-8 Familial Paroxysmal Choreoathetosis Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1 Paroxysmal Nonkinesigenic Dyskinesia
Familial Paroxysmal Nonkinesigenic Dyskinesia	Paroxysmal Nonkinesigenic Dyskinesia Paroxysmal Dystonic Choreoathetosis Pnkd Nonkinesigenic Choreoathetosis Familial Paroxysmal Choreoathetosis Mount-Reback Syndrome Pdc Paroxysmal Non-Kinesigenic Dyskinesia Paroxystic Non-Kinesigenic Choreoathetosis Dyskinesia, Nonkinesigenic, Paroxysmal
Paroxysmal Dyskinesia	Paroxysmal Choreoathetosis Paroxysmal Dystonic Choreoathetosis Paroxysmal Dyskinesias
Paroxysmal Dystonia	Paroxysmal Dyskinesia Pxd - [Paroxysmal Dyskinesia]
Hepatitis C Virus	Hepatitis C Virus, Susceptibility To Hepatitis C Virus Infection, Response To Therapy Of Hcv Hcv, Susceptibility To Hepatitis C Virus, Resistance To Hepatitis C Virus, Response To Therapy Of Resistance To Hepatitis C Virus
Chorea Gravidarum
Episodic Kinesigenic Dyskinesia 1	Paroxysmal Kinesigenic Choreoathetosis Paroxysmal Kinesigenic Dyskinesia Dystonia 10 Familial Paroxysmal Kinesigenic Dyskinesia Episodic Kinesigenic Dyskinesia EKD1 Pkc Pkd Dyt10 Familial Pkd Paroxysmal Kinesigenic Choreathetosis Familial Paroxysmal Dystonia Dystonia, Familial Paroxysmal Dyt-Prrt2 Dystonia, Type 10
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Dystonia, Dopa-Responsive	Dystonia 5 Dopa-Responsive Dystonia DRD Dyt5 Dystonia-Parkinsonism With Diurnal Fluctuation Dyt-Th Hpd With Diurnal Fluctuation Hereditary Progressive Dystonia With Diurnal Fluctuation Dystonia, Progressive, With Diurnal Variation Segawa Syndrome, Autosomal Dominant Dystonia, Dopa-Responsive, Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia Dyt-Gch1 Dyt-Spr Dystonia 5, Dopa-Responsive Type Hereditary Progressive Dystonia With Marked Diurnal Fluctuation Autosomal Dominant Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome Dystonia-5 Progressive Dystonia With Diurnal Fluctuation Dystonia, Type 5, Dopa-Responsive Type
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome EPRPDC Re-Ped-Wc Epilepsy, Rolandic, With Proxysmal Exercise-Induce Dystonia And Writer'S Cramp Epilepsy, Rolandic, With Paroxysmal Exercise-Induce Dystonia And Writer'S Cramp Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp Rolandic-Type Focal Motor Epilepsy And Exercise-Induced Dystonia Rolandic Epilepsy Exercise-Induced Dystonia Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Syndromic X-Linked Intellectual Disability Hedera Type	Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Mrxsh
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Episodic Kinesigenic Dyskinesia 2	EKD2 Dystonia 19 Dyt19
Combined Oxidative Phosphorylation Deficiency 10	COXPD10 Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis Combined Oxidative Phosphorylation Defect Type 10 Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis Combined Oxidative Phosphorylation Deficiency, Type 10
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Hemidystonia
Choreatic Disease	Chorea Hereditary Chorea
Segmental Dystonia
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Infancy Electroclinical Syndrome
Spinocerebellar Ataxia 27	Spinocerebellar Ataxia Type 27 SCA27 Cerebellar Ataxia Autosomal Dominant Fgf14-Related Vestibulocerebellar Disorder With Predominant Ocular Signs Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related Nystagmus 4, Congenital, Autosomal Dominant, Formerly Nys4, Formerly Ataxia, Spinocerebellar, Type 27
Dystonia 3, Torsion, X-Linked	X-Linked Dystonia-Parkinsonism DYT3 Xdp Lubag Dystonia-Parkinsonism, X-Linked Torsion Dystonia-Parkinsonism, Filipino Type Dyt-Taf1 X-Linked Dystonia-Parkinsonism Syndrome X-Linked Torsion Dystonia-Parkinsonism Syndrome Dystonia Musculorum Deformans X-Linked Dystonia-Parkinsonism/Lubag Lubag Syndrome Dystonia-3 Torsion Dystonia-Parkinsonism Filipino Type X-Linked Torsion Dystonia 3 Dystonia, Torsion, X-Linked, Type 3
Dissociative Disorder	Dissociative Disorders Dissociative Disease Dissociative Reaction
Dystonia 1, Torsion, Autosomal Dominant	Dystonia Musculorum Deformans 1 Dystonia Musculorum Deformans DYT1 Early-Onset Torsion Dystonia Eotd Dystonia-1, Torsion Torsion Dystonia 1 Autosomal Dominant Torsion Dystonia 1 Dystonia-1 Oppenheim'S Dystonia Oppenheim-Ziehen Disease Early Onset Torsion Dystonia Dystonia 3, Torsion, X-Linked
Episodic Ataxia, Type 1	Episodic Ataxia Type 1 Episodic Ataxia/Myokymia Syndrome EA1 Episodic Ataxia With Myokymia Eam Ataxia, Episodic, With Myokymia Aem Paroxysmal Ataxia With Neuromyotonia, Hereditary Myokymia With Periodic Ataxia Episodic Ataxia 1 Aemk Ea-1 Paroxysmal Ataxia With Neuromyotonia Myokymia Isolated 1 MK1 Ataxia, Episodic, Type 1 Continuous Muscle Fiber Activity, Hereditary Isaacs Syndrome
Multifocal Dystonia
Focal Dystonia	Dystonia, Focal, Task-Specific
Spasmodic Dystonia	Laryngeal Dystonia
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Movement Disease	Movement Disorders Movement Disorder
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10777	PNKD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PNKD	RGD	RGD:2300155
Canis familiaris	PNKD	VGNC	VGNC:44742
Felis catus	PNKD	VGNC	VGNC:80313
Bos taurus	PNKD	VGNC	VGNC:33080
Macaca mulatta	PNKD	VGNC	VGNC:104551
Mus musculus	PNKD	MGD	MGI:1930773
Others	PNKD	NCBI