1. Gene
  2. PNKD - PNKD metallo-beta-lactamase domain containing Gene

PNKD - PNKD metallo-beta-lactamase domain containing Gene

中文名称:含 PNKD 金属-β-内酰胺酶结构域

种属: Homo sapiens

同用名: R1; MR1; PDC; DYT8; FPD1; MR-1; BRP17; MR-1S; PKND1; PNKD1; FKSG19; TAHCCP2; KIPP1184

基因 ID: 25953 | 基因类型: protein coding

关于 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.

功能概要

该基因被认为在肌原纤维发生的调节中起作用。该基因的突变与运动障碍阵发性非运动诱发性运动障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25066297 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of neurotransmitter secretion IMP
IMP: 通过突变表型推断
25730884 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
22214848 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PNKD 蛋白结构

Lactamase_B

Lactamase_B: Metallo-beta-lactamase superfamily (128 - 291)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
蛋白主名 其他名称

probable hydrolase PNKD

PNKD, MBL domain containing

PNKD 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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