PNKP

PNKP
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2BRF, 2W3O
Dynodwyr
Cyfenwau	PNKP, EIEE10, MCSZ, PNK, AOA4, polynucleotide kinase 3'-phosphatase, CMT2B2
Dynodwyr allanol	OMIM: 605610 HomoloGene: 5247 GeneCards: PNKP
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• transferase activity; • nucleotide binding; • polydeoxyribonucleotide 5'-hydroxyl-kinase activity; • kinase activity; • damaged DNA binding; • GO:0001948, GO:0016582 protein binding; • catalytic activity; • purine nucleotide binding; • endonuclease activity; • double-stranded DNA binding; • hydrolase activity; • ATP binding; • polynucleotide 3'-phosphatase activity; • nucleoside monophosphate kinase activity; • polynucleotide kinase activity;
Cydrannau o'r gell	• bilen; • nucleoplasm; • nucleolus; • cnewyllyn cell; • mitocondria;
Prosesau biolegol	• DNA-dependent DNA replication; • nucleotide-excision repair, DNA damage removal; • positive regulation of telomere capping; • phosphorylation; • positive regulation of telomere maintenance via telomerase; • GO:0001306 response to oxidative stress; • cellular response to DNA damage stimulus; • nucleotide phosphorylation; • positive regulation of telomerase activity; • response to radiation; • metabolaeth; • GO:0098501, GO:0098502, GO:0006286 dephosphorylation; • polynucleotide 3' dephosphorylation; • GO:0100026 DNA repair; • nucleic acid phosphodiester bond hydrolysis; • negative regulation of protein ADP-ribosylation; • nucleoside monophosphate phosphorylation;
	Sources:Amigo / QuickGO
Orthologau
	11284
	n/a
	ENSG00000039650
	n/a
	Q96T60
	n/a
	NM_007254
	n/a
	NP_009185
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PNKP yw PNKP a elwir hefyd yn Polynucleotide kinase 3'-phosphatase a Bifunctional polynucleotide phosphatase/kinase (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 19, band 19q13.33.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PNKP.

PNK
AOA4
MCSZ
EIEE10

Llyfryddiaeth

"Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. ". Am J Hum Genet. 2015. PMID 25728773.
"Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. ". Neurogenetics. 2013. PMID 23224214.
"Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. ". Am J Med Genet A. 2016. PMID 27232581.
"Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease. ". Mech Ageing Dev. 2017. PMID 27125728.
"Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4.". Mov Disord. 2016. PMID 26970421.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] PNKP - Cronfa NCBI

[1]

[2]