InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRPF31

Summary

InnateDB Protein

IDBP-68112.6

Last Modified

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

Gene Symbol

PRPF31

Protein Name

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000324122

InnateDB Gene

IDBG-68110 (PRPF31)

Protein Structure

UniProt Annotation

Function

Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. {ECO:0000269PubMed:11867543}.

Subcellular Localization

Nucleus speckle. Nucleus, Cajal body. Note=Predominantly found in speckles and in Cajal bodies.

Disease Associations

Retinitis pigmentosa 11 (RP11) [MIM:600138]: 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:11545739, ECO:0000269PubMed:12923864, ECO:0000269PubMed:8808602}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:11545739}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 62 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	62 [view]
Protein-Protein	61 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0043021	ribonucleoprotein complex binding
GO:0044822	poly(A) RNA binding
GO:0070990	snRNP binding

Biological Process

GO:0000244	spliceosomal tri-snRNP complex assembly
GO:0000398	mRNA splicing, via spliceosome

Cellular Component

GO:0005634	nucleus
GO:0005684	U2-type spliceosomal complex
GO:0005687	U4 snRNP
GO:0005690	U4atac snRNP
GO:0015030	Cajal body
GO:0016607	nuclear speck
GO:0046540	U4/U6 x U5 tri-snRNP complex
GO:0071339	MLL1 complex