Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9129
Gene name Gene Name - the full gene name approved by the HGNC.
Pre-mRNA processing factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRPF3
Synonyms (NCBI Gene) Gene synonyms aliases
HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP18
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434241 C>T Pathogenic Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121434242 C>T Pathogenic Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121434243 C>A Pathogenic Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs199721048 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs1572263399 A>G Likely-pathogenic Genic downstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1265351 hsa-miR-1271 CLIP-seq
MIRT1265352 hsa-miR-1321 CLIP-seq
MIRT1265353 hsa-miR-199a-5p CLIP-seq
MIRT1265354 hsa-miR-199b-5p CLIP-seq
MIRT1265355 hsa-miR-204 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000244 Process Spliceosomal tri-snRNP complex assembly IDA 20595234
GO:0000375 Process RNA splicing, via transesterification reactions TAS 9328476
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IDA 28781166
GO:0000398 Process MRNA splicing, via spliceosome NAS 9328476
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607301 17348 ENSG00000117360
Protein
UniProt ID O43395
Protein name U4/U6 small nuclear ribonucleoprotein Prp3 (Pre-mRNA-splicing factor 3) (hPrp3) (U4/U6 snRNP 90 kDa protein)
Protein function Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:26912367, ECO:0000269|PubMed
PDB 1X4Q , 3JCR , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 7N2N , 7N2R , 7N2S , 8H6E , 8H6J , 8H6K , 8H6L , 8Q7N , 8QO9 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01480 PWI 9 78 PWI domain Family
PF08572 PRP3 308 521 pre-mRNA processing factor 3 (PRP3) Domain
PF06544 DUF1115 544 673 Protein of unknown function (DUF1115) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain. {ECO:0000269|PubMed:11773002}.
Sequence
Sequence length 683
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hearing loss Conductive hearing loss, Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Islet Cell Associate 33154504
Atrophy Associate 20309403
Carcinogenesis Associate 31926109
Carcinoma Hepatocellular Associate 31926109
Carcinoma Squamous Cell Associate 32483193
Death Associate 15944448
Diabetes Mellitus Type 1 Associate 33154504
Eye Diseases Associate 15944448
Keratosis Actinic Stimulate 32483193
Myopia Associate 20309403