PRPF8

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

PRPF8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3E9L, 3ENB, 3LRU, 4JK7, 4JK8, 4JK9, 4JKA, 4JKB, 4JKC, 4JKD, 4JKE, 4JKF, 4JKG, 4JKH, 4KIT, 3JCR
Identifiers
Aliases	PRPF8, pre-mRNA processing factor 8, HPRP8, PRP8, PRPC8, RP13, SNRNP220
External IDs	OMIM: 607300; MGI: 2179381; HomoloGene: 4706; GeneCards: PRPF8; OMA:PRPF8 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.3 Start 1,650,629 bp[1] End 1,684,867 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B5|11 45.92 cM Start 75,377,642 bp[2] End 75,400,275 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary ventricular zone bone marrow cells ganglionic eminence left ovary right ovary right hemisphere of cerebellum epithelium of colon right lobe of thyroid gland left testis Top expressed in tail of embryo genital tubercle mandibular prominence neural layer of retina epiblast maxillary prominence corneal stroma efferent ductule medial ganglionic eminence primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function K63-linked polyubiquitin modification-dependent protein binding protein binding RNA binding second spliceosomal transesterification activity U6 snRNA binding U1 snRNA binding U2 snRNA binding U5 snRNA binding pre-mRNA intronic binding Cellular component nuclear speck catalytic step 2 spliceosome membrane U5 snRNP nucleoplasm small nuclear ribonucleoprotein complex spliceosomal complex nucleus U4/U6 x U5 tri-snRNP complex U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome Biological process mRNA splicing, via spliceosome spliceosomal tri-snRNP complex assembly RNA splicing, via transesterification reactions cellular response to tumor necrosis factor mRNA processing RNA splicing cellular response to lipopolysaccharide Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10594 192159 Ensembl ENSG00000274442 ENSG00000174231 ENSMUSG00000020850 UniProt Q6P2Q9 Q99PV0 RefSeq (mRNA) NM_006445 NM_138659 RefSeq (protein) NP_006436 NP_619600 Location (UCSC) Chr 17: 1.65 – 1.68 Mb Chr 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]