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Entry version 172 (13 Feb 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Bifunctional polynucleotide phosphatase/kinase

Gene

PNKP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi372 – 379ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Kinase, Multifunctional enzyme, Transferase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.1.78 2681
3.1.3.32 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5649702 APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway

SIGNOR Signaling Network Open Resource

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SIGNORi
Q96T60

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Bifunctional polynucleotide phosphatase/kinase
Alternative name(s):
DNA 5'-kinase/3'-phosphatase
Polynucleotide kinase-3'-phosphatase
Including the following 2 domains:
Polynucleotide 3'-phosphatase (EC:3.1.3.32)
Alternative name(s):
2'(3')-polynucleotidase
Polynucleotide 5'-hydroxyl-kinase (EC:2.7.1.78)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PNKP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000039650.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9154 PNKP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605610 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96T60

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Microcephaly, seizures, and developmental delay (MCSZ)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly.
See also OMIM:613402
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063835176L → F in MCSZ. 1 PublicationCorresponds to variant dbSNP:rs267606957EnsemblClinVar.1
Natural variantiVAR_063836326E → K in MCSZ. 1 PublicationCorresponds to variant dbSNP:rs267606956EnsemblClinVar.1
Natural variantiVAR_076537462R → P in MCSZ; atypical phenotype. 1 PublicationCorresponds to variant dbSNP:rs376854895EnsemblClinVar.1
Ataxia-oculomotor apraxia 4 (AOA4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.
See also OMIM:616267
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073369375G → W in AOA4. 1 PublicationCorresponds to variant dbSNP:rs786203983EnsemblClinVar.1
Natural variantiVAR_073370408Missing in AOA4. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Neurodegeneration, Primary microcephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
11284

MalaCards human disease database

More...
MalaCardsi
PNKP
MIMi613402 phenotype
616267 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000039650

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
459033 Ataxia-oculomotor apraxia type 4
1934 Early infantile epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33477

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PNKP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
50401132

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000584781 – 521Bifunctional polynucleotide phosphatase/kinaseAdd BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Modified residuei118PhosphothreonineCombined sources1
Modified residuei122PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96T60

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96T60

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96T60

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96T60

PeptideAtlas

More...
PeptideAtlasi
Q96T60

PRoteomics IDEntifications database

More...
PRIDEi
Q96T60

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78199

PTM databases

DEPOD human dephosphorylation database

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DEPODi
Q96T60

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96T60

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96T60

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in many tissues with highest expression in spleen and testis, and lowest expression in small intestine (PubMed:10446192). Expressed in higher amount in pancreas, heart and kidney and at lower levels in brain, lung and liver (PubMed:10446193).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000039650 Expressed in 204 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96T60 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96T60 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA006782

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116440, 69 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96T60

Protein interaction database and analysis system

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IntActi
Q96T60, 47 interactors

Molecular INTeraction database

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MINTi
Q96T60

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000323511

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2BRFX-ray1.40A1-110[»]
2W3OX-ray1.85A/B1-110[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96T60

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96T60

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q96T60

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini6 – 110FHAAdd BLAST105

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni146 – 337PhosphataseBy similarityAdd BLAST192
Regioni341 – 516KinaseBy similarityAdd BLAST176

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The FHA domain binds threonine-phosphorylated peptides from XRCC1/4, and is responsible for the recruitment of PNKP to the sites of DNA repair. The affinity is ten times greater if peptides are also phosphorylated on the serine preceeding the phosphothreonine.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the N-terminal section; belongs to the DNA 3' phosphatase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2134 Eukaryota
COG0241 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159302

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000031466

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053624

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96T60

KEGG Orthology (KO)

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KOi
K08073

Identification of Orthologs from Complete Genome Data

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OMAi
SCSDRNF

Database of Orthologous Groups

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OrthoDBi
1252087at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96T60

TreeFam database of animal gene trees

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TreeFami
TF313738

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.1000, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036412 HAD-like_sf
IPR006549 HAD-SF_hydro_IIIA
IPR023214 HAD_sf
IPR027417 P-loop_NTPase
IPR013954 PNK3P
IPR006550 PNK_3Pase_met
IPR006551 Polynucleotide_phosphatase
IPR008984 SMAD_FHA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08645 PNK3P, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49879 SSF49879, 1 hit
SSF52540 SSF52540, 1 hit
SSF56784 SSF56784, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01664 DNA-3'-Pase, 1 hit
TIGR01662 HAD-SF-IIIA, 1 hit
TIGR01663 PNK-3'Pase, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96T60-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGEVEAPGRL WLESPPGGAP PIFLPSDGQA LVLGRGPLTQ VTDRKCSRTQ
60 70 80 90 100
VELVADPETR TVAVKQLGVN PSTTGTQELK PGLEGSLGVG DTLYLVNGLH
110 120 130 140 150
PLTLRWEETR TPESQPDTPP GTPLVSQDEK RDAELPKKRM RKSNPGWENL
160 170 180 190 200
EKLLVFTAAG VKPQGKVAGF DLDGTLITTR SGKVFPTGPS DWRILYPEIP
210 220 230 240 250
RKLRELEAEG YKLVIFTNQM SIGRGKLPAE EFKAKVEAVV EKLGVPFQVL
260 270 280 290 300
VATHAGLYRK PVTGMWDHLQ EQANDGTPIS IGDSIFVGDA AGRPANWAPG
310 320 330 340 350
RKKKDFSCAD RLFALNLGLP FATPEEFFLK WPAAGFELPA FDPRTVSRSG
360 370 380 390 400
PLCLPESRAL LSASPEVVVA VGFPGAGKST FLKKHLVSAG YVHVNRDTLG
410 420 430 440 450
SWQRCVTTCE TALKQGKRVA IDNTNPDAAS RARYVQCARA AGVPCRCFLF
460 470 480 490 500
TATLEQARHN NRFREMTDSS HIPVSDMVMY GYRKQFEAPT LAEGFSAILE
510 520
IPFRLWVEPR LGRLYCQFSE G
Length:521
Mass (Da):57,076
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i22B5C94D41E62516
GO
Isoform 2 (identifier: Q96T60-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MGEVEAPGRLWLESPPGGAPPIFLPSDGQALVLGRGPLTQVTDRKCSRTQ → MQILTPPLQSS

Note: No experimental confirmation available.
Show »
Length:482
Mass (Da):53,004
Checksum:iD079EBCC7DAD8402
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R3C8M0R3C8_HUMAN
Bifunctional polynucleotide phospha...
PNKP
455Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYI1M0QYI1_HUMAN
Bifunctional polynucleotide phospha...
PNKP
247Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYH2M0QYH2_HUMAN
Bifunctional polynucleotide phospha...
PNKP
490Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFL2A0A0D9SFL2_HUMAN
Bifunctional polynucleotide phospha...
PNKP
485Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R000M0R000_HUMAN
Bifunctional polynucleotide phospha...
PNKP
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QX49M0QX49_HUMAN
Bifunctional polynucleotide phospha...
PNKP
51Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFD6A0A0D9SFD6_HUMAN
Bifunctional polynucleotide phospha...
PNKP
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFU1A0A0D9SFU1_HUMAN
Bifunctional polynucleotide phospha...
PNKP
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R097M0R097_HUMAN
Bifunctional polynucleotide phospha...
PNKP
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEV0A0A0D9SEV0_HUMAN
Bifunctional polynucleotide phospha...
PNKP
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD47379 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti6A → P in AAD50639 (PubMed:10446193).Curated1
Sequence conflicti18G → E in AAD51135 (PubMed:10446192).Curated1
Sequence conflicti458R → C in AAD47379 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01926020P → S1 PublicationCorresponds to variant dbSNP:rs3739168EnsemblClinVar.1
Natural variantiVAR_01926163A → V1 PublicationCorresponds to variant dbSNP:rs3739173EnsemblClinVar.1
Natural variantiVAR_063835176L → F in MCSZ. 1 PublicationCorresponds to variant dbSNP:rs267606957EnsemblClinVar.1
Natural variantiVAR_019262180R → S1 PublicationCorresponds to variant dbSNP:rs3739185EnsemblClinVar.1
Natural variantiVAR_019263196Y → N1 PublicationCorresponds to variant dbSNP:rs3739186EnsemblClinVar.1
Natural variantiVAR_063836326E → K in MCSZ. 1 PublicationCorresponds to variant dbSNP:rs267606956EnsemblClinVar.1
Natural variantiVAR_073369375G → W in AOA4. 1 PublicationCorresponds to variant dbSNP:rs786203983EnsemblClinVar.1
Natural variantiVAR_073370408Missing in AOA4. 1 Publication1
Natural variantiVAR_076537462R → P in MCSZ; atypical phenotype. 1 PublicationCorresponds to variant dbSNP:rs376854895EnsemblClinVar.1
Natural variantiVAR_019264478V → G1 PublicationCorresponds to variant dbSNP:rs3739206EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0555001 – 50MGEVE…CSRTQ → MQILTPPLQSS in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF126486 mRNA Translation: AAD51135.1
AF125807 mRNA Translation: AAD50639.1
AF120499 mRNA Translation: AAD47379.1 Frameshift.
AF354258 Genomic DNA Translation: AAK57340.1
AY133033 Genomic DNA Translation: AAM82170.1
AC018766 Genomic DNA Translation: AAF44716.1
BC002519 mRNA Translation: AAH02519.2
BC033822 mRNA Translation: AAH33822.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12783.1 [Q96T60-1]

NCBI Reference Sequences

More...
RefSeqi
NP_009185.2, NM_007254.3 [Q96T60-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.78016

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000322344; ENSP00000323511; ENSG00000039650 [Q96T60-1]
ENST00000596014; ENSP00000472300; ENSG00000039650 [Q96T60-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11284

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11284

UCSC genome browser

More...
UCSCi
uc002pqj.4 human [Q96T60-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF126486 mRNA Translation: AAD51135.1
AF125807 mRNA Translation: AAD50639.1
AF120499 mRNA Translation: AAD47379.1 Frameshift.
AF354258 Genomic DNA Translation: AAK57340.1
AY133033 Genomic DNA Translation: AAM82170.1
AC018766 Genomic DNA Translation: AAF44716.1
BC002519 mRNA Translation: AAH02519.2
BC033822 mRNA Translation: AAH33822.1
CCDSiCCDS12783.1 [Q96T60-1]
RefSeqiNP_009185.2, NM_007254.3 [Q96T60-1]
UniGeneiHs.78016

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2BRFX-ray1.40A1-110[»]
2W3OX-ray1.85A/B1-110[»]
ProteinModelPortaliQ96T60
SMRiQ96T60
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116440, 69 interactors
CORUMiQ96T60
IntActiQ96T60, 47 interactors
MINTiQ96T60
STRINGi9606.ENSP00000323511

PTM databases

DEPODiQ96T60
iPTMnetiQ96T60
PhosphoSitePlusiQ96T60

Polymorphism and mutation databases

BioMutaiPNKP
DMDMi50401132

Proteomic databases

EPDiQ96T60
jPOSTiQ96T60
MaxQBiQ96T60
PaxDbiQ96T60
PeptideAtlasiQ96T60
PRIDEiQ96T60
ProteomicsDBi78199

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
11284
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322344; ENSP00000323511; ENSG00000039650 [Q96T60-1]
ENST00000596014; ENSP00000472300; ENSG00000039650 [Q96T60-1]
GeneIDi11284
KEGGihsa:11284
UCSCiuc002pqj.4 human [Q96T60-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11284
DisGeNETi11284
EuPathDBiHostDB:ENSG00000039650.9

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PNKP
HGNCiHGNC:9154 PNKP
HPAiHPA006782
MalaCardsiPNKP
MIMi605610 gene
613402 phenotype
616267 phenotype
neXtProtiNX_Q96T60
OpenTargetsiENSG00000039650
Orphaneti459033 Ataxia-oculomotor apraxia type 4
1934 Early infantile epileptic encephalopathy
PharmGKBiPA33477

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2134 Eukaryota
COG0241 LUCA
GeneTreeiENSGT00940000159302
HOGENOMiHOG000031466
HOVERGENiHBG053624
InParanoidiQ96T60
KOiK08073
OMAiSCSDRNF
OrthoDBi1252087at2759
PhylomeDBiQ96T60
TreeFamiTF313738

Enzyme and pathway databases

BRENDAi2.7.1.78 2681
3.1.3.32 2681
ReactomeiR-HSA-5649702 APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
SIGNORiQ96T60

Miscellaneous databases

EvolutionaryTraceiQ96T60

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PNKP

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
11284

Protein Ontology

More...
PROi
PR:Q96T60

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000039650 Expressed in 204 organ(s), highest expression level in left adrenal gland
ExpressionAtlasiQ96T60 baseline and differential
GenevisibleiQ96T60 HS

Family and domain databases

Gene3Di3.40.50.1000, 1 hit
InterProiView protein in InterPro
IPR036412 HAD-like_sf
IPR006549 HAD-SF_hydro_IIIA
IPR023214 HAD_sf
IPR027417 P-loop_NTPase
IPR013954 PNK3P
IPR006550 PNK_3Pase_met
IPR006551 Polynucleotide_phosphatase
IPR008984 SMAD_FHA_dom_sf
PfamiView protein in Pfam
PF08645 PNK3P, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF52540 SSF52540, 1 hit
SSF56784 SSF56784, 1 hit
TIGRFAMsiTIGR01664 DNA-3'-Pase, 1 hit
TIGR01662 HAD-SF-IIIA, 1 hit
TIGR01663 PNK-3'Pase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPNKP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96T60
Secondary accession number(s): Q9BUL2
, Q9P1V2, Q9UKU8, Q9UNF8, Q9UNI0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: February 13, 2019
This is version 172 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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