• Gene id: 11017

Gene Summary

• Gene Symbol: SNRNP27   Gene   UCSC   Ensembl
• Aliases: 27K, RY1
• Gene name: small nuclear ribonucleoprotein U4/U6.U5 subunit 27
• Alternate names: U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein, U4/U6.U5 tri-snRNP-associated 27 kDa protein, U4/U6.U5 tri-snRNP-associated protein 3, U4/U6.U5-27K, putative nucleic acid binding protein RY-1, small nuclear ribonucleoprotein 27kDa (U4/U6.U5), small nuc,
• Gene location: 2p13.3 (69893955: 69905235)     Exons: 7     NC_000002.12
• Gene summary(Entrez): This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component o

Protein Summary

• Protein general information: Q8WVK2  
  • Name: U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein (U4/U6.U5 snRNP 27 kDa protein) (U4/U6.U5 27K) (Nucleic acid binding protein RY 1) (U4/U6.U5 tri snRNP associated 27 kDa protein) (27K) (U4/U6.U5 tri snRNP associated protein 3)
  • Length: 155  
  • Mass: 18860
• Sequence:

  MGRSRSRSPRRERRRSRSTSRERERRRRERSRSRERDRRRSRSRSPHRRRSRSPRRHRSTSPSPSRLKERRDEEK
  KETKETKSKERQITEEDLEGKTEEEIEMMKLMGFASFDSTKGKKVDGSVNAYAINVSQKRKYRQYMNRKGGFNRP
  LDFIA

• Structural information:
  • Interpro: IPR013957  
  • PDB: 6QW6 6QX9
  • PDBsum: 6QW6 6QX9
  • STRING: ENSP00000244227
• Other Databases: GeneCards:  SNRNP27  Malacards:  SNRNP27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008380	RNA splicing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0003676	nucleic acid binding	NAS	molecular function
GO:0008150	biological_process	ND	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq