PRPF3

PRPF3
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1X4Q, 3JCR
Dynodwyr
Cyfenwau	PRPF3, pre-mRNA processing factor 3, HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90
Dynodwyr allanol	OMIM: 607301 HomoloGene: 3447 GeneCards: PRPF3
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• GO:0001948, GO:0016582 protein binding; • identical protein binding; • RNA binding;
Cydrannau o'r gell	• Cajal body; • U4/U6 x U5 tri-snRNP complex; • spliceosomal complex; • cnewyllyn cell; • nucleoplasm; • cytosol; • nuclear speck; • GO:0009327 protein-containing complex; • U2-type precatalytic spliceosome;
Prosesau biolegol	• RNA splicing, via transesterification reactions; • mRNA splicing, via spliceosome; • mRNA processing; • spliceosomal tri-snRNP complex assembly; • RNA splicing;
	Sources:Amigo / QuickGO
Orthologau
	9129
	n/a
	ENSG00000117360
	n/a
	O43395
	n/a
	NM_004698; NM_001350529
	n/a
	NP_004689; NP_001337458
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PRPF3 yw PRPF3 a elwir hefyd yn Pre-mRNA processing factor 3 (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 1, band 1q21.2.^[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 PRPF3.

PRP3
RP18
HPRP3
Prp3p
HPRP3P
SNRNP90

Llyfryddiaeth

"SUMO conjugation to spliceosomal proteins is required for efficient pre-mRNA splicing. ". Nucleic Acids Res. 2017. PMID 28379520.
"Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. ". Mol Vis. 2010. PMID 20309403.
"Contribution of the individual subunits of protein kinase CK2 and of hPrp3p to the splicing process. ". Mol Cell Biochem. 2008. PMID 18553058.
"Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. ". Hum Mol Genet. 2008. PMID 17932117.
"Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.". Hum Mol Genet. 2007. PMID 17517693.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] PRPF3 - Cronfa NCBI

[1]

[2]