Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

PNKP

protein_coding 19 49,859,882 - 49,878,351 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000039650

Gene type
protein_coding

Chromosome
19

Coordinates
49,859,882 - 49,878,351

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

11284 CCDS12783 ENST00000322344.8 NM_007254 NM_007254.4 PNK Q96T60 bifunctional polynucleotide phosphatase/kinase

Summary

GENCODE gene_type=protein_coding; HGNC symbol=PNKP; HGNC name=polynucleotide kinase 3'-phosphatase; alias_count=8; RefSeq=NM_007254; UniProt=Q96T60; MANE Select=ENST00000322344.8,NM_007254.4

Source: GENCODE + HGNC complete set

11284 • protein-coding

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]

NCBI Gene

UniProt

Q96T60 • reviewed

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 (PubMed:10446192, PubMed:10446193, PubMed:15385968, PubMed:20852255, PubMed:28453785). 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 (PubMed:10446192, PubMed:10446193)

Bifunctional polynucleotide phosphatase/kinase · Nucleus; Chromosome · EC 2.7.1.78; 3.1.3.32

Q96T60 • reviewed

Bifunctional polynucleotide phosphatase/kinase · Nucleus; Chromosome · EC 2.7.1.78; 3.1.3.32

GO annotations

Biological process

GO:0006974 DNA damage response (IEA)
GO:0006281 DNA repair (IEA)
GO:0006281 DNA repair (IGI)
GO:0006261 DNA-templated DNA replication (NAS)
GO:0006284 base-excision repair (IBA)
GO:0006287 base-excision repair, gap-filling (TAS)
GO:0006303 double-strand break repair via nonhomologous end joining (IDA)
GO:0006303 double-strand break repair via nonhomologous end joining (IDA)
GO:0006303 double-strand break repair via nonhomologous end joining (IBA)
GO:0006289 nucleotide-excision repair (TAS)

+ 7 more

Cellular component

GO:0070421 DNA ligase III-XRCC1 complex (NAS)
GO:0005694 chromosome (IEA)
GO:0005694 chromosome (EXP)
GO:0016020 membrane (HDA)
GO:0005730 nucleolus (IDA)
GO:0005654 nucleoplasm (IDA)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)

+ 8 more

Molecular function

GO:0005524 ATP binding (NAS)
GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (IEA)
GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (IEA)
GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (EXP)
GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (IDA)
GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (IBA)
GO:0051734 ATP-dependent polynucleotide 5'-hydroxyl-kinase activity (IEA)
GO:0003684 damaged DNA binding (NAS)
GO:0003690 double-stranded DNA binding (TAS)
GO:0004519 endonuclease activity (NAS)

+ 64 more

Representative

Representative transcript
ENST00000322344

Representative protein
ENSP00000323511.2

Representative type
CCDS

Candidate count
8

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000596624	PNKP-208	protein_coding_CDS_not_defined	not available	not available	19:49,859,882 - 49,860,514 -
ENST00000636840	PNKP-226	protein_coding	not available	ENSP00000490737.1	19:49,860,099 - 49,861,666 -
ENST00000596014	PNKP-207	protein_coding	not available	ENSP00000472300.1	19:49,861,203 - 49,867,286 -
ENST00000600573	PNKP-214	protein_coding	not available	ENSP00000469826.1	19:49,861,203 - 49,867,584 -
ENST00000600910	PNKP-215	protein_coding	not available	ENSP00000473137.1	19:49,861,203 - 49,867,584 -
ENST00000631020	PNKP-224	protein_coding	not available	ENSP00000486707.1	19:49,861,203 - 49,867,286 -
ENST00000861311	PNKP-232	protein_coding	not available	ENSP00000531370.1	19:49,861,203 - 49,867,584 -
ENST00000861312	PNKP-233	protein_coding	not available	ENSP00000531371.1	19:49,861,203 - 49,867,584 -
ENST00000861313	PNKP-234	protein_coding	not available	ENSP00000531372.1	19:49,861,203 - 49,867,584 -
ENST00000934444	PNKP-235	protein_coding	not available	ENSP00000604503.1	19:49,861,203 - 49,867,584 -
ENST00000934445	PNKP-236	protein_coding	not available	ENSP00000604504.1	19:49,861,203 - 49,867,573 -
ENST00000934446	PNKP-237	protein_coding	not available	ENSP00000604505.1	19:49,861,203 - 49,867,584 -
ENST00000934447	PNKP-238	protein_coding	not available	ENSP00000604506.1	19:49,861,203 - 49,867,584 -
ENST00000934448	PNKP-239	protein_coding	not available	ENSP00000604507.1	19:49,861,203 - 49,867,584 -
ENST00000934449	PNKP-240	protein_coding	not available	ENSP00000604508.1	19:49,861,203 - 49,867,584 -
ENST00000934450	PNKP-241	protein_coding	not available	ENSP00000604509.1	19:49,861,203 - 49,867,457 -
ENST00000934451	PNKP-242	protein_coding	not available	ENSP00000604510.1	19:49,861,203 - 49,867,286 -
ENST00000934452	PNKP-243	protein_coding	not available	ENSP00000604511.1	19:49,861,203 - 49,867,286 -
ENST00000965094	PNKP-244	protein_coding	not available	ENSP00000635153.1	19:49,861,203 - 49,867,584 -
ENST00000965095	PNKP-245	protein_coding	not available	ENSP00000635154.1	19:49,861,203 - 49,867,286 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.