• Gene id: 9410

Gene Summary

• Gene Symbol: SNRNP40   Gene   UCSC   Ensembl
• Aliases: 40K, HPRP8BP, PRP8BP, PRPF8BP, SPF38, WDR57
• Gene name: small nuclear ribonucleoprotein U5 subunit 40
• Alternate names: U5 small nuclear ribonucleoprotein 40 kDa protein, 38 kDa-splicing factor, Prp8-binding protein, U5 snRNP 40 kDa protein, U5 snRNP-specific 40 kDa protein (hPrp8-binding), U5-40K, U5-40kD protein, WD repeat domain 57 (U5 snRNP specific), WD repeat-containing prot,
• Gene location: 1p35.2 (31296787: 31259567)     Exons: 10     NC_000001.11
• Gene summary(Entrez): This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]
• OMIM: 607797

Protein Summary

• Protein general information: Q96DI7  
  • Name: U5 small nuclear ribonucleoprotein 40 kDa protein (U5 snRNP 40 kDa protein) (U5 40K) (38 kDa splicing factor) (Prp8 binding protein) (hPRP8BP) (U5 snRNP specific 40 kDa protein) (WD repeat containing protein 57)
  • Length: 357  
  • Mass: 39311
• Sequence:

  MIEQQKRKGPELPLVPVKRQRHELLLGAGSGPGAGQQQATPGALLQAGPPRCSSLQAPIMLLSGHEGEVYCCKFH
  PNGSTLASAGFDRLILLWNVYGDCDNYATLKGHSGAVMELHYNTDGSMLFSASTDKTVAVWDSETGERVKRLKGH
  TSFVNSCYPARRGPQLVCTGSDDGTVKLWDIRKKAAIQTFQNTYQVLAVTFNDTSDQIISGGIDNDIKVWDLRQN
  KLTYTMRGHADSVTGLSLSSEGSYLLSNAMDNTVRVWDVRPFAPKERCVKIFQGNVHNFEKNLLRCSWSPDGSKI
  AAGSADRFVYVWDTTSRRILYKLPGHAGSINEVAFHPDEPIIISASSDKRLYMGEIQ

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 3JCR 5MQF 5O9Z 5XJC 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • PDBsum: 3JCR 5MQF 5O9Z 5XJC 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • STRING: ENSP00000263694
• Other Databases: GeneCards:  SNRNP40  Malacards:  SNRNP40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	HDA	molecular function
GO:0005732	small nucleolar ribonucleoprotein complex	NAS	cellular component
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005682	U5 snRNP	TAS	cellular component
GO:0008380	RNA splicing	TAS	biological process
GO:0006396	RNA processing	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
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: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:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)