|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
neurodevelopmental disorders
seizures
microcephaly
MCSZ (microcephaly, seizures, and developmental delay)
ataxia-ocular motor apraxia 4
|
|
gptkbp:biologicalProcess
|
gptkb:non-homologous_end_joining
base excision repair
double-strand break repair
single-strand break repair
polynucleotide 3'-phosphatase activity
polynucleotide 5'-kinase activity
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
|
|
gptkbp:encodedBy
|
PNKP gene
|
|
gptkbp:Entrez_Gene_ID
|
11284
|
|
gptkbp:enzymeCommissionNumber
|
EC 2.7.1.78
EC 3.1.3.32
|
|
gptkbp:fullName
|
polynucleotide kinase 3'-phosphatase
|
|
gptkbp:function
|
DNA repair
phosphatase activity
kinase activity
|
|
gptkbp:gene
|
gptkb:PNKP
|
|
gptkbp:HGNC_ID
|
9145
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PNKP
|
|
gptkbp:interactsWith
|
gptkb:XRCC1
gptkb:DNA_ligase_III
gptkb:DNA_ligase_IV
XRCC4
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19q13.33
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:molecularWeight
|
57 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes DNA repair defects
|
|
gptkbp:OMIM
|
605610
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:PDB
|
2BRF
|
|
gptkbp:RefSeq
|
NM_007254
|
|
gptkbp:UniProtID
|
Q96T60
|
|
gptkbp:bfsParent
|
gptkb:PNK
|
|
gptkbp:bfsLayer
|
7
|