• Gene id: 6635

Gene Summary

• Gene Symbol: SNRPE   Gene   UCSC   Ensembl
• Aliases: HYPT11, SME, Sm-E, snRNP-E
• Gene name: small nuclear ribonucleoprotein polypeptide E
• Alternate names: small nuclear ribonucleoprotein E, sm protein E,
• Gene location: 1q32.1 (63528020: 63583587)     Exons: 9     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is
• OMIM: 128260

Protein Summary

• Protein general information: P62304  
  • Name: Small nuclear ribonucleoprotein E (snRNP E) (Sm protein E) (Sm E) (SmE)
  • Length: 92  
  • Mass: 10804
  • Tissue specificity: Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the dermis. {ECO
• Sequence:

  MAYRGQGQKVQKVMVQPINLIFRYLQNRSRIQVWLYEQVNMRIEGCIIGFDEYMNLVLDDAEEIHSKTKSRKQLG
  RIMLKGDNITLLQSVSN

• Structural information:
  • Interpro: IPR001163  IPR010920  IPR027078  
  • CDD: cd01718
  • PDB: 3CW1 3JCR 3PGW 4F7U 4PJO 4V98 4WZJ 5MQF 5O9Z 5XJC 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 5YZG 5Z56 5Z57 5Z58 6AH0 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • PDBsum: 3CW1 3JCR 3PGW 4F7U 4PJO 4V98 4WZJ 5MQF 5O9Z 5XJC 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 5YZG 5Z56 5Z57 5Z58 6AH0 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • DIP: 31220
  • STRING: ENSP00000400591
• Other Databases: GeneCards:  SNRPE  Malacards:  SNRPE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0071011	precatalytic spliceosome	IBA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0005687	U4 snRNP	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
GO:0005685	U1 snRNP	IBA	cellular component
GO:0005682	U5 snRNP	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0034715	pICln-Sm protein complex	IDA	cellular component
GO:0034709	methylosome	IDA	cellular component
GO:0005687	U4 snRNP	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0042633	hair cycle	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0006369	termination of RNA polymerase II transcription	TAS	biological process
GO:0008334	histone mRNA metabolic process	TAS	biological process
GO:0008334	histone mRNA metabolic process	TAS	biological process
GO:0008334	histone mRNA metabolic process	TAS	biological process
GO:0008334	histone mRNA metabolic process	TAS	biological process
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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: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:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005683	U7 snRNP	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:0000245	spliceosomal complex assembly	NAS	biological process
GO:0030532	small nuclear ribonucleoprotein complex	NAS	cellular component
GO:0005681	spliceosomal complex	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Hereditary hypotrichosis simplex	KEGG:H00786
Hereditary hypotrichosis simplex	KEGG:H00786
Lupus nephritis	PMID:15494537
Hypotrichosis 1	PMID:23246290
Prostate cancer	PMID:22740892
lung adenocarcinoma	PMID:22876301
hepatocellular carcinoma	PMID:21688285
neuroblastoma	PMID:17075126
nasopharynx carcinoma	PMID:24080422
acute lymphocytic leukemia	PMID:23915977
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray