Homo sapiens Protein: PRPF3 | |||||||||||||||||||
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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 |
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002483
PWI domain IPR010541 Domain of unknown function DUF1115 IPR013881 Pre-mRNA-splicing factor 3 |
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PFAM |
PF01480
PF06544 PF08572 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00311
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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 | ||||||||||||||||||