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
Species	Bod dynol	Llygoden
Entrez	11284	n/a
Ensembl	ENSG00000039650	n/a
UniProt	Q96T60	n/a
RefSeq (mRNA)	NM_007254	n/a
RefSeq (protein)	NP_009185	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		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.

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.