PRPF8

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the PRPF8 gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesPRPF8, pre-mRNA processing factor 8, HPRP8, PRP8, PRPC8, RP13, SNRNP220
Quick facts Available structures, PDB ...
PRPF8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPRPF8, pre-mRNA processing factor 8, HPRP8, PRP8, PRPC8, RP13, SNRNP220
External IDsOMIM: 607300; MGI: 2179381; HomoloGene: 4706; GeneCards: PRPF8; OMA:PRPF8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006445

NM_138659

RefSeq (protein)

NP_006436

NP_619600

Location (UCSC)Chr 17: 1.65 – 1.68 MbChr 11: 75.38 – 75.4 Mb
PubMed search[3][4]
Wikidata
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Function

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa.[7]

Interactions

PRPF8 has been shown to interact with WDR57[8][9] and EFTUD2.[9]

References

Further reading

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