PNKD - PNKD metallo-beta-lactamase domain containing Gene

Homo sapiens

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

Gene ID: 25953 | Gene type: protein coding

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

PNKD Protein Structure

Lactamase_B

0
100
200
300
385 a.a.

Protein Preferred Names

Protein Names

probable hydrolase PNKD

PNKD, MBL domain containing

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

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