InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRPF8

Summary

InnateDB Protein

IDBP-15310.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRPF8

Protein Name

PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)

Synonyms

HPRP8; PRP8; PRPC8; RP13; SNRNP220;

Species

Homo sapiens

Ensembl Protein

ENSP00000304350

InnateDB Gene

IDBG-15306 (PRPF8)

Protein Structure

UniProt Annotation

Function

Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site.

Subcellular Localization

Nucleus speckle {ECO:0000250}.

Disease Associations

Retinitis pigmentosa 13 (RP13) [MIM:600059]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:11468273, ECO:0000269PubMed:11910553, ECO:0000269PubMed:12714658, ECO:0000269Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:10411133}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 150 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	150 [view]
Protein-Protein	150 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0017070	U6 snRNA binding
GO:0030623	U5 snRNA binding
GO:0044822	poly(A) RNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000375	RNA splicing, via transesterification reactions
GO:0000398	mRNA splicing, via spliceosome
GO:0006397	mRNA processing
GO:0008380	RNA splicing
GO:0010467	gene expression

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005682	U5 snRNP
GO:0016020	membrane
GO:0016607	nuclear speck
GO:0071013	catalytic step 2 spliceosome

Protein Structure and Domains

PDB ID

InterPro

IPR000555 JAB1/MPN/MOV34 metalloenzyme domain
IPR008972 Cupredoxin
IPR009072 Histone-fold
IPR012591 PRO8NT domain
IPR012592 PROCN domain
IPR012984 PROCT domain
IPR019580 Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding
IPR019581 Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding
IPR019582 RNA recognition motif, spliceosomal PrP8
IPR021983 PRP8 domain IV core

PFAM