PNKP
entrez
11284
canonical
uniprot
Q96T60
canonical
ensembl
ENSG00000039650
resolver
ensp
ENSP00000323511
resolver
genesymbol
PNKP
resolver
hgnc
HGNC:9154
resolver
uniprot
Q9BUL2
resolver
uniprot
Q9P1V2
resolver
uniprot
Q9UKU8
resolver
uniprot
Q9UNF8
resolver
uniprot
Q9UNI0
resolver
uniprot_entry
PNKP_HUMAN
resolver
uniprot_sec
Q9BUL2
resolver
uniprot_sec
Q9P1V2
resolver
uniprot_sec
Q9UKU8
resolver
uniprot_sec
Q9UNF8
resolver
uniprot_sec
Q9UNI0
resolver
amino_acid_sequence
MGEVEAPGRLWLESPPGGAPPIFLPSDGQALVLGRGPLTQVTDRKCSRTQVELVADPETRTVAVKQLGVNPSTTGTQELKPGLEGSLGVGDTLYLVNGLHPLTLRWEETRTPESQPDTPPGTPLVSQDEKRDAELPKKRMRKSNPGWENLEKLLVFTAAGVKPQGKVAGFDLDGTLITTRSGKVFPTGPSDWRILYPEIPRKLRELEAEGYKLVIFTNQMSIGRGKLPAEEFKAKVEAVVEKLGVPFQVLVATHAGLYRKPVTGMWDHLQEQANDGTPISIGDSIFVGDAAGRPANWAPGRKKKDFSCADRLFALNLGLPFATPEEFFLKWPAAGFELPAFDPRTVSRSGPLCLPESRALLSASPEVVVAVGFPGAGKSTFLKKHLVSAGYVHVNRDTLGSWQRCVTTCETALKQGKRVAIDNTNPDAASRARYVQCARAAGVPCRCFLFTATLEQARHNNRFREMTDSSHIPVSDMVMYGYRKQFEAPTLAEGFSAILEIPFRLWVEPRLGRLYCQFSEG
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402]: An autosomal recessive neurodevelopmental disorder 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. {ECO:0000269|PubMed:20118933, ECO:0000269|PubMed:27232581, ECO:0000269|PubMed:28453785}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ataxia-oculomotor apraxia 4 (AOA4) [MIM:616267]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. {ECO:0000269|PubMed:25728773}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.78
uniprot
proteins
ec_number
3.1.3.32
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:10446192, ECO:0000269|PubMed:10446193, ECO:0000269|PubMed:15385968, ECO:0000269|PubMed:20852255, ECO:0000269|PubMed:28453785}.
uniprot
proteins
mass_dalton
57076
uniprot
proteins
protein_family
DNA 3' phosphatase family
uniprot
proteins
pubmed
10446192
uniprot
proteins
pubmed
10446193
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15385968
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19155274
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20118933
uniprot
proteins
pubmed
20852255
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25728773
uniprot
proteins
pubmed
27232581
uniprot
proteins
pubmed
28453785
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10446193}. Chromosome {ECO:0000269|PubMed:28453785}. Note=Localizes to site of double-strand breaks. {ECO:0000269|PubMed:28453785}.
uniprot
proteins