• Gene id: 9128

Gene Summary

• Gene Symbol: PRPF4   Gene   UCSC   Ensembl
• Aliases: HPRP4, HPRP4P, PRP4, Prp4p, RP70, SNRNP60
• Gene name: pre-mRNA processing factor 4
• Alternate names: U4/U6 small nuclear ribonucleoprotein Prp4, PRP4 homolog, PRP4 pre-mRNA processing factor 4 homolog, PRP4/STK/WD splicing factor, U4/U6 snRNP 60 kDa protein, WD splicing factor Prp4,
• Gene location: 9q32 (113275633: 113292904)     Exons: 14     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 143110

SNPs

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

Protein Summary

• Protein general information: O43172  
  • Name: U4/U6 small nuclear ribonucleoprotein Prp4 (PRP4 homolog) (hPrp4) (U4/U6 snRNP 60 kDa protein) (WD splicing factor Prp4)
  • Length: 522  
  • Mass: 58449
• Sequence:

  MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGIEAGNINITSGEVFEI
  EEHISERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPITLFGEGPAERRERLRNILSVVGTDALKKTKK
  DDEKSKKSKEEYQQTWYHEGPNSLKVARLWIANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFC
  SQIGDDRPISYCHFSPNSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCA
  ADGSVKLWSLDSDEPVADIEGHTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILHQEGHSMGVYDIAFHQ
  DGSLAGTGGLDAFGRVWDLRTGRCIMFLEGHLKEIYGINFSPNGYHIATGSGDNTCKVWDLRQRRCVYTIPAHQN
  LVTGVKFEPIHGNFLLTGAYDNTAKIWTHPGWSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE

• Structural information:
  • Interpro: IPR020472  IPR014906  IPR036285  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 1MZW 3JCR 5O9Z 6AH0 6AHD 6QW6 6QX9
  • PDBsum: 1MZW 3JCR 5O9Z 6AH0 6AHD 6QW6 6QX9
  • STRING: ENSP00000363313
• Other Databases: GeneCards:  PRPF4  Malacards:  PRPF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0030621	U4 snRNA binding	IBA	molecular function
GO:0017070	U6 snRNA binding	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071001	U4/U6 snRNP	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0097525	spliceosomal snRNP complex	IDA	cellular component
GO:0016607	nuclear speck	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: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:0006396	RNA processing	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
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: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	IC	biological process
GO:0005681	spliceosomal complex	IC	cellular component
GO:0071001	U4/U6 snRNP	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0005681	spliceosomal complex	NAS	cellular component
GO:0000375	RNA splicing, via transesterification reactions	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R