• Gene id: 154007

Gene Summary

• Gene Symbol: SNRNP48   Gene   UCSC   Ensembl
• Aliases: C6orf151, dJ336K20B.1, dJ512B11.2
• Gene name: small nuclear ribonucleoprotein U11/U12 subunit 48
• Alternate names: U11/U12 small nuclear ribonucleoprotein 48 kDa protein, U11-48K, U11/U12 snRNP 48 kDa protein, U11/U12 snRNP 48K, U11/U12-48K, small nuclear ribonucleoprotein 48kDa (U11/U12), small nuclear ribonucleoprotein, U11/U12 48KDa subunit,
• Gene location: 6p24.3 (7590197: 7611966)     Exons: 9     NC_000006.12
• OMIM: 0

Protein Summary

• Protein general information: Q6IEG0  
  • Name: U11/U12 small nuclear ribonucleoprotein 48 kDa protein (U11/U12 snRNP 48 kDa protein) (U11/U12 48K)
  • Length: 339  
  • Mass: 39965
• Sequence:

  MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLDPGEEEAAEDEVVICPYDSNHHMPKSSLAKHM
  ASCRLRKMGYTKEEEDEMYNPEFFYENVKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQRIYSSLPVEVPLNHK
  RFVCDLTQADRLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDNSRKSPKSYLEILAEVRDYKRRRQSY
  RAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDAECSRHRRDRS
  RSPHKRKRNKDKDKNCESRRRKERDGERHHSHKRRKQKI

• Structural information:
  • Interpro: IPR032845  IPR022776  IPR036236  
  • Prosite: PS51800
  • PDB: 2VY4 2VY5
  • PDBsum: 2VY4 2VY5
  • STRING: ENSP00000339834
• Other Databases: GeneCards:  SNRNP48  Malacards:  SNRNP48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008380	RNA splicing	IC	biological process
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0005689	U12-type spliceosomal complex	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	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: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:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
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