EXOSC3

EXOSC3
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2NN6
Dynodwyr
Cyfenwau	EXOSC3, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10, CGI-102, Exosome component 3
Dynodwyr allanol	OMIM: 606489 HomoloGene: 6867 GeneCards: EXOSC3
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • 3'-5'-exoribonuclease activity • exoribonuclease activity • GO:0001948, GO:0016582 protein binding • RNA binding Cydrannau o'r gell • cytosol • nuclear exosome (RNase complex) • cytoplasmic exosome (RNase complex) • cnewyllyn cell • cytoplasm • exosome (RNase complex) • nucleolus • nucleoplasm Prosesau biolegol • nuclear polyadenylation-dependent tRNA catabolic process • exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) • regulation of mRNA stability • polyadenylation-dependent snoRNA 3'-end processing • DNA deamination • CUT catabolic process • nuclear polyadenylation-dependent rRNA catabolic process • positive regulation of isotype switching • isotype switching • nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' • U4 snRNA 3'-end processing • rRNA processing • exonucleolytic catabolism of deadenylated mRNA Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	51010	n/a
Ensembl	ENSG00000107371	n/a
UniProt	Q9NQT5	n/a
RefSeq (mRNA)	NM_016042 NM_001002269	n/a
RefSeq (protein)	NP_001002269 NP_057126	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 EXOSC3 yw EXOSC3 a elwir hefyd yn Exosome component 3 (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 9, band 9p13.2.

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 EXOSC3.

• p10
• PCH1B
• RRP40
• Rrp40p
• CGI-102
• hRrp-40
• bA3J10.7

Llyfryddiaeth

• "Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. ". Neurogenetics. 2013. PMID 23975261.
• "Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. ". J Neurogenet. 2013. PMID 23883322.
• "Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. ". J Neurol. 2014. PMID 25149867.
• EXOSC3-Related Pontocerebellar Hypoplasia. 1993. PMID 25144110.
• "EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.". Orphanet J Rare Dis. 2014. PMID 24524299.