PRPF4 Gene Summary [Human]

The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

Details

Type
Protein Coding
Official Symbol
PRPF4
Official Name
pre-mRNA processing factor 4 [Source:HGNC Symbol;Acc:HGNC:17349]
Ensembl ID
ENSG00000136875
Bio databases IDs NCBI: 9128 Ensembl: ENSG00000136875
Aliases pre-mRNA processing factor 4, PRP4/STK/WD splicing factor, U4/U6 small nuclear ribonucleoprotein Prp4
Synonyms 1600015H11Rik, AW047464, bN189G18.1, HPRP4, HPRP4P, pre-mRNA processing factor 4, pre-mRNA splicing tri-snRNP complex factor PRPF4, PRP4, Prp4p, RP70, SNRNP60, U4/U6-60
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRPF4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • pre-mRNA processing factor 4 (PRP4) like
  • WD40 repeats
  • WD domain, G-beta repeat
  • WD40
  • protein binding
  • Splicing Factor Motif, present in Prp18 and Pr04

Pathways

Biological processes and signaling networks where the PRPF4 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • retinitis pigmentosa type 70
  • retinal dystrophy
  • major depression
  • androgenic alopecia
regulated by
role in cell
  • cell cycle progression
  • splicing by
  • mitosis
  • autophagy in
  • transport
  • autophagy
  • spindle checkpoint

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Cytoplasm
  • spliceosomes
  • nucleoplasm
  • nuclear speckles
  • Cajal bodies
  • kinetochores

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PRPF4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • RNA splicing, via transesterification reactions
  • RNA splicing
  • RNA processing
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nuclear speck
  • U4/U6 x U5 tri-snRNP complex
  • U4/U6 snRNP
  • Cajal body
  • spliceosomal complex
  • U2-type precatalytic spliceosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • U6 snRNA binding
  • protein binding
  • U4 snRNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.