• Gene id: 9129

Gene Summary

• Gene Symbol: PRPF3   Gene   UCSC   Ensembl
• Aliases: HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90
• Gene name: pre-mRNA processing factor 3
• Alternate names: U4/U6 small nuclear ribonucleoprotein Prp3, PRP3 pre-mRNA processing factor 3 homolog, U4/U6 snRNP 90 kDa protein, U4/U6-associated RNA splicing factor, pre-mRNA-splicing factor 3,
• Gene location: 1q21.2 (150321467: 150353232)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 607301

Protein Summary

• Protein general information: O43395  
  • Name: U4/U6 small nuclear ribonucleoprotein Prp3 (Pre mRNA splicing factor 3) (hPrp3) (U4/U6 snRNP 90 kDa protein)
  • Length: 683  
  • Mass: 77529
  • Tissue specificity: Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain. {ECO
• Sequence:

  MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRS
  SRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAAT
  RQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIG
  NANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEK
  PSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAP
  KKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRR
  QTRREAQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQR
  KVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLH
  RIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALS
  ESVLESTD

• Structural information:
  • Protein Domains: (1..8-)
    (/note="PWI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00627"-)
  • Interpro: IPR010541  IPR013881  IPR027104  IPR002483  IPR036483  
  • Prosite: PS51025
  • PDB: 1X4Q 3JCR 5O9Z 6AH0 6AHD 6QW6 6QX9
  • PDBsum: 1X4Q 3JCR 5O9Z 6AH0 6AHD 6QW6 6QX9
  • DIP: 34508
  • STRING: ENSP00000315379
• Other Databases: GeneCards:  PRPF3  Malacards:  PRPF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0000244	spliceosomal tri-snRNP complex assembly	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0006397	mRNA processing	TAS	biological process
GO:0008380	RNA splicing	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005681	spliceosomal complex	NAS	cellular component
GO:0000398	mRNA splicing, via spliceosome	NAS	biological process
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:11773002
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881