Gene Gene information from NCBI Gene database.
Entrez ID 9128
Gene name Pre-mRNA splicing tri-snRNP complex factor PRPF4
Gene symbol PRPF4
Synonyms (NCBI Gene)
HPRP4HPRP4PPRP4Prp4pRP70SNRNP60
Chromosome 9
Chromosome location 9q32
Summary The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovari
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777599 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
593
miRTarBase ID miRNA Experiments Reference
MIRT173709 hsa-miR-519a-3p HITS-CLIP 23313552
MIRT173704 hsa-miR-519b-3p HITS-CLIP 23313552
MIRT173701 hsa-miR-519c-3p HITS-CLIP 23313552
MIRT173693 hsa-miR-302a-3p HITS-CLIP 23313552
MIRT173694 hsa-miR-302b-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000375 Process RNA splicing, via transesterification reactions NAS 9328476
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 9570313
GO:0000398 Process MRNA splicing, via spliceosome IDA 28781166
GO:0000398 Process MRNA splicing, via spliceosome NAS 30975767
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607795 17349 ENSG00000136875
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43172
Protein name U4/U6 small nuclear ribonucleoprotein Prp4 (PRP4 homolog) (hPrp4) (U4/U6 snRNP 60 kDa protein) (WD splicing factor Prp4)
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:25383878, ECO:0000269|PubMed
PDB 1MZW , 3JCR , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 8H6E , 8H6J , 8H6K , 8H6L , 8Q7N , 8QO9 , 8QOZ , 8QPA , 8QPB , 8QPE , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08799 PRP4 108 136 pre-mRNA processing factor 4 (PRP4) like Domain
PF00400 WD40 215 259 WD domain, G-beta repeat Repeat
PF00400 WD40 263 309 WD domain, G-beta repeat Repeat
PF00400 WD40 313 351 WD domain, G-beta repeat Repeat
PF00400 WD40 397 435 WD domain, G-beta repeat Repeat
PF00400 WD40 439 478 WD domain, G-beta repeat Repeat
PF00400 WD40 482 520 WD domain, G-beta repeat Repeat
Sequence
MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGI
EAGNINITSGEVFEIEEHISERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPIT
LFGEGPAERRERLRNI
LSVVGTDALKKTKKDDEKSKKSKEEYQQTWYHEGPNSLKVARLW
IANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFS
PNSKMLATACWSGLCKLWS
VPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCA
ADGSVKLWS
LDSDEPVADIEGHTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILH
QEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIMFLEGHLKEIYGINFSPNGY
HIATGSGDNTCKVWD
LRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHP
GWSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinal dystrophy Likely pathogenic rs587777599 RCV004815198
Retinitis pigmentosa 70 Likely pathogenic rs587777599 RCV000132564
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Uncertain significance rs1184540333, rs373783471 RCV005935005
RCV005912532
Cholangiocarcinoma Likely benign rs1184540333 RCV005935008
Familial cancer of breast Likely benign rs1184540333 RCV005935003
Malignant tumor of esophagus Likely benign rs1184540333 RCV005935004
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Dissection Associate 37684281
Ovarian Neoplasms Associate 18687998
Retinal Diseases Associate 38184646
Retinitis Pigmentosa Associate 37264419