PNKP - polynucleotide kinase 3'-phosphatase Gene

Homo sapiens

Also known as PNK; AOA4; MCSZ; CMT2B2; EIEE10

Gene ID: 11284 | Gene type: protein coding

About PNKP

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,861,204-49,867,576 (from NCBI)

This gene has 31 transcripts (splice variants), 188 orthologues and is associated with 7 phenotypes. Ubiquitous expression in spleen (RPKM 18.2), adrenal (RPKM 13.4) and 25 other tissues.

Summary

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]

PNKP Products(1)

mRNA	Protein	Name
NM_007254.4	NP_009185.2	bifunctional polynucleotide phosphatase/kinase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	IDA IDA: Inferred from direct assay	10446193	GOA
enables polynucleotide 3'-phosphatase activity	IDA IDA: Inferred from direct assay	10446192	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15385968	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA ligation involved in DNA repair	IDA IDA: Inferred from direct assay	15385968	GOA
involved in DNA repair	IGI IGI: Inferred from genetic interaction	10446192	GOA
involved in double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	15385968	GOA
involved in negative regulation of protein ADP-ribosylation	IMP IMP: Inferred from mutant phenotype	28002403	GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	12032095	GOA
acts upstream of or within positive regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	21531765	GOA
involved in response to oxidative stress	IDA IDA: Inferred from direct assay	10446192	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	10446193	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	28453785	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

PNKP Protein Structure

PNK3P

AAA_33

0
100
200
300
400
521 a.a.

Protein Preferred Names

Protein Names

bifunctional polynucleotide phosphatase/kinase

DNA 5'-kinase/3'-phosphatase

Recombinant PNKP Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71620	PNKP Protein, Human (His-SUMO)	Q96T60-1 (M1-G521)	≥95%

Related Diseases

Diseases

Alias

Ataxia-Oculomotor Apraxia 4

AOA4	Ataxia-Oculomotor Apraxia Type 4
Ataxia - Oculomotor Apraxia Type 4	Ataxia With Oculomotor Apraxia Type 4
Ataxia-Oculomotor Apraxia-4	Ataxia-Oculomotor Apraxia, Type 4

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2	CMT2B2
Arcmt2b	Charcot-Marie-Tooth Disease, Type 2b2
Ar-Cmt2b2	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
Autosomal Recessive Axonal Cmt4c3	Charcot-Marie-Tooth Disease Neuronal Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2	Charcot-Marie-Tooth Neuropathy, Type 2b2
Charcot-Marie-Tooth Disease 2b2	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
Charcot-Marie-Tooth Disease Axonal Type 2b2

Microcephaly, Seizures, And Developmental Delay

MCSZ	Developmental And Epileptic Encephalopathy 10
Epileptic Encephalopathy, Early Infantile, 10	Eiee10
Dee10	Early Infantile Epileptic Encephalopathy 10

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Developmental And Epileptic Encephalopathy 12

Epileptic Encephalopathy, Early Infantile, 12	DEE12
Eiee12	Early Infantile Epileptic Encephalopathy 12
Developmental And Epileptic Encephalopathy, 12	Encephalopathy, Epileptic, Early Infantile, Type 12

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1	Ataxia-Telangiectasia-Like Disorder
EAOH	Eoca-Ha
Ataxia With Oculomotor Apraxia Type 1	Ataxia-Oculomotor Apraxia 1
Ataxia-Oculomotor Apraxia Syndrome	AOA
Ataxia-Telangiectasia-Like Syndrome	Ataxia-Oculomotor Apraxia Type 1
Ataxia With Oculomotor Apraxia	Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia	Early-Onset Cerebellar Ataxia With Hypoalbuminemia
Adult Onset Ataxia With Oculomotor Apraxia	Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
Scan2	Scar1
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Atld	Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar Ataxia Early-Onset With Hypoalbuminemia	Ataxia-Oculomotor Apraxia
Spinocerebellar Ataxia, Autosomal Recessive 1

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Apraxia

Apraxias

Dyspraxia

Oculomotor Apraxia

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1	Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy	Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy	Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy	Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Spinocerebellar Ataxia, Autosomal Recessive 26

SCAR26	Autosomal Recessive Spinocerebellar Ataxia 26
Spinocerebellar Ataxia, Autosomal Recessive, 26

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Spinocerebellar Ataxia, Autosomal Recessive 23

SCAR23	Autosomal Recessive Spinocerebellar Ataxia 23
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency
Spinocerebellar Ataxia Autosomal Recessive Type 23	Spinocerebellar Ataxia, Autosomal Recessive, 23
Ataxia, Spinocerebellar, Autosomal Recessive, Type 23

Ataxia-Oculomotor Apraxia 3

Ataxia With Oculomotor Apraxia Type 3	AOA3
Aaxia-Oculomotor Apraxia-3	Ataxia-Oculomotor Apraxia, Type 3

Developmental And Epileptic Encephalopathy 8

DEE8	Epileptic Encephalopathy, Early Infantile, 8
Eiee8	Hyperekplexia And Epilepsy
Developmental And Epileptic Encephalopathy, 8	Early Infantile Epileptic Encephalopathy 8
Hyperekplexia-Epilepsy Syndrome	Hyperekplexia With Epilepsy
Startle Disease With Epilepsy	Encephalopathy, Epileptic, Early Infantile, Type 8

Pilocytic Astrocytoma Of Cerebellum

Cerebellar Pilocytic Astrocytoma

Lig4 Syndrome

Dna Ligase Iv Deficiency	Ligase 4 Syndrome
LIG4S

Ataxia-Telangiectasia

Ataxia Telangiectasia	Louis-Bar Syndrome
AT	At1
Ataxia-Telangiectasia Syndrome	Ataxia - Telangiectasia Variant
Boder-Sedgwick Syndrome	Louis Bar Syndrome
Cerebello-Oculocutaneous Telangiectasia	Immunodeficiency With Ataxia Telangiectasia
A-T	Ataxia Telangiectasia Syndrome
Atm	Telangiectasia, Cerebello-Oculocutaneous
Ataxia-Telangiectasia Variant

Cerebellar Astrocytoma

Astrocytoma Of Cerebellum

Usher Syndrome, Type If

Usher Syndrome Type 1f	USH1F
Usher Syndrome, Type 1f	Usher Syndrome Type If
Usher Syndrome 1f	Usher'S Syndrome Type 1f

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

Autosomal Recessive Cerebellar Ataxia

Arca

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10778	PNKP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PNKP	VGNC	VGNC:44743
Felis catus	PNKP	VGNC	VGNC:97559
Macaca mulatta	PNKP	VGNC	VGNC:76196
Mus musculus	PNKP	MGD	MGI:1891698
Bos taurus	PNKP	VGNC	VGNC:33081
Rattus norvegicus	PNKP	RGD	RGD:1303331
Others	PNKP	NCBI