Homo sapiens Protein: PRPF3
Summary
InnateDB Protein IDBP-102103.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRPF3
Protein Name PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)
Synonyms HPRP3; HPRP3P; PRP3; Prp3p; RP18; SNRNP90;
Species Homo sapiens
Ensembl Protein ENSP00000315379
InnateDB Gene IDBG-102101 (PRPF3)
Protein Structure
UniProt Annotation
Function Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.
Subcellular Localization Nucleus speckle. Note=Colocalizes with spliceosomal snRNPs.
Disease Associations Retinitis pigmentosa 18 (RP18) [MIM:601414]: 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:11773002, ECO:0000269PubMed:12714658}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain. {ECO:0000269PubMed:11773002}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 108 experimentally validated interaction(s) in this database.
Experimentally validated
Total 108 [view]
Protein-Protein 107 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000375 RNA splicing, via transesterification reactions
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
Cellular Component
GO:0005634 nucleus
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0046540 U4/U6 x U5 tri-snRNP complex
Protein Structure and Domains
PDB ID
InterPro IPR002483 PWI domain
IPR010541 Domain of unknown function DUF1115
IPR013881 Pre-mRNA-splicing factor 3
PFAM PF01480
PF06544
PF08572
PRINTS
PIRSF
SMART SM00311
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O43395
PhosphoSite PhosphoSite-O43395
TrEMBL
UniProt Splice Variant
Entrez Gene 9129
UniGene Hs.11776
RefSeq NP_004689
HUGO HGNC:17348
OMIM 607301
CCDS CCDS951
HPRD 07389
IMGT
EMBL AF001947 AF016370 AL611942 BC000184 BC001954 CH471121
GenPept AAC09069 AAC51926 AAH00184 AAH01954 CAH70312 EAW53556