PABPN1

PABPN1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3B4D, 3B4M, 3UCG
Dynodwyr
Cyfenwau	PABPN1, OPMD, PAB2, PABII, PABP-2, PABP2, poly(A) binding protein nuclear 1
Dynodwyr allanol	OMIM: 602279 HomoloGene: 3412 GeneCards: PABPN1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • nucleic acid binding • RNA binding • RNA polymerase binding Cydrannau o'r gell • cytoplasm • nucleoplasm • nuclear inclusion body • cnewyllyn cell • nuclear speck • ribonucleoprotein complex Prosesau biolegol • mRNA splicing, via spliceosome • termination of RNA polymerase II transcription • GO:0033168, GO:0036404, GO:1902360 RNA processing • muscle contraction • mRNA processing • poly(A)+ mRNA export from nucleus • modification by virus of host mRNA processing • mRNA 3'-end processing • MAPK cascade • cellular response to lipopolysaccharide • positive regulation of polynucleotide adenylyltransferase activity Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	8106	n/a
Ensembl	ENSG00000100836	n/a
UniProt	Q86U42	n/a
RefSeq (mRNA)	NM_004643 NM_001360551 NM_001360552	n/a
RefSeq (protein)	NP_004634 NP_001347480 NP_001347481	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PABPN1 yw PABPN1 a elwir hefyd yn Poly(A) binding protein nuclear 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 14, band 14q11.2.^[2]

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 PABPN1.

• "Automated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript. ". Nucleic Acids Res. 2016. PMID 26527730.
• "Canonical Poly(A) Polymerase Activity Promotes the Decay of a Wide Variety of Mammalian Nuclear RNAs. ". PLoS Genet. 2015. PMID 26484760.
• "Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. ". Neurology. 2017. PMID 28011929.
• "Characterization of PABPN1expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). ". J Investig Med. 2017. PMID 27980005.
• "Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.". Nucleic Acids Res. 2016. PMID 27507886.