UPF3B

UPF3B
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1UW4, 2XB2
Dynodwyr
Cyfenwau	UPF3B, HMRX62, MRXS14, RENT3B, UPF3X, Upf3p-X, UPF3BP1, UPF3BP2, UPF3BP3, UPF3 regulator of nonsense transcripts homolog B (yeast), UPF3 regulator of nonsense transcripts homolog B, regulator of nonsense mediated mRNA decay, UPF3B regulator of nonsense mediated mRNA decay, MRX82
Dynodwyr allanol	OMIM: 300298 HomoloGene: 11307 GeneCards: UPF3B
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • mRNA binding • GO:0005487 structural constituent of nuclear pore • nucleic acid binding • RNA binding Cydrannau o'r gell • exon-exon junction complex • nucleoplasm • microtubule organizing center • nucleolus • cnewyllyn cell • cytoplasm • cytosol Prosesau biolegol • mRNA splicing, via spliceosome • termination of RNA polymerase II transcription • mRNA transport • mRNA export from nucleus • positive regulation of translation • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay • mRNA 3'-end processing • RNA export from nucleus • GO:0015915 transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	65109	n/a
Ensembl	ENSG00000125351	n/a
UniProt	Q9BZI7	n/a
RefSeq (mRNA)	NM_023010 NM_080632	n/a
RefSeq (protein)	NP_075386 NP_542199	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 UPF3B yw UPF3B a elwir hefyd yn UPF3B, regulator of nonsense mediated mRNA decay (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 X dynol, band Xq24.^[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 UPF3B.

• "Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. ". Eur J Med Genet. 2012. PMID 22609145.
• "Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. ". Mol Psychiatry. 2012. PMID 22182939.
• "Dual function of UPF3B in early and late translation termination. ". EMBO J. 2017. PMID 28899899.
• "Full UPF3B function is critical for neuronal differentiation of neural stem cells. ". Mol Brain. 2015. PMID 26012578.
• "Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.". Clin Genet. 2013. PMID 22957832.