PRPF3

PRPF3
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauPRPF3, pre-mRNA processing factor 3, HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90
Dynodwyr allanolOMIM: 607301 HomoloGene: 3447 GeneCards: PRPF3
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004698
NM_001350529

n/a

RefSeq (protein)

NP_004689
NP_001337458

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]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

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