SNRPE (small nuclear ribonucleoprotein polypeptide E)

Gene

• Entrez ID: 6635
• Gene name: Small nuclear ribonucleoprotein polypeptide E
• Gene symbol: SNRPE
• Synonyms: HYPT11, SME, Sm-E, snRNP-E
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776924	A>G	Pathogenic	5 prime UTR variant, non coding transcript variant, initiator codon variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs587776925	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051965	hsa-let-7b-5p	CLASH	23622248
MIRT049628	hsa-miR-92a-3p	CLASH	23622248
MIRT183599	hsa-miR-802	PAR-CLIP	23446348
MIRT453618	hsa-miR-643	PAR-CLIP	23446348
MIRT453617	hsa-miR-137	PAR-CLIP	23446348
MIRT453616	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT453615	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT453614	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT183601	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT183599	hsa-miR-802	PAR-CLIP	23592263
MIRT453618	hsa-miR-643	PAR-CLIP	23592263
MIRT453617	hsa-miR-137	PAR-CLIP	23592263
MIRT453616	hsa-miR-5590-5p	PAR-CLIP	23592263
MIRT453615	hsa-miR-4659a-5p	PAR-CLIP	23592263
MIRT453614	hsa-miR-4659b-5p	PAR-CLIP	23592263
MIRT183601	hsa-miR-4776-3p	PAR-CLIP	23592263
MIRT183599	hsa-miR-802	PAR-CLIP	23446348
MIRT453618	hsa-miR-643	PAR-CLIP	23446348
MIRT453617	hsa-miR-137	PAR-CLIP	23446348
MIRT453616	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT453615	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT453614	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT183601	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT183599	hsa-miR-802	PAR-CLIP	23592263
MIRT453618	hsa-miR-643	PAR-CLIP	23592263
MIRT453617	hsa-miR-137	PAR-CLIP	23592263
MIRT453616	hsa-miR-5590-5p	PAR-CLIP	23592263
MIRT453615	hsa-miR-4659a-5p	PAR-CLIP	23592263
MIRT453614	hsa-miR-4659b-5p	PAR-CLIP	23592263
MIRT183601	hsa-miR-4776-3p	PAR-CLIP	23592263
MIRT1376236	hsa-miR-1	CLIP-seq
MIRT1376237	hsa-miR-1237	CLIP-seq
MIRT1376238	hsa-miR-124	CLIP-seq
MIRT1376239	hsa-miR-1248	CLIP-seq
MIRT1376240	hsa-miR-1323	CLIP-seq
MIRT1376241	hsa-miR-206	CLIP-seq
MIRT1376242	hsa-miR-23a	CLIP-seq
MIRT1376243	hsa-miR-23b	CLIP-seq
MIRT1376244	hsa-miR-23c	CLIP-seq
MIRT1376245	hsa-miR-338-5p	CLIP-seq
MIRT1376246	hsa-miR-362-5p	CLIP-seq
MIRT1376247	hsa-miR-3673	CLIP-seq
MIRT1376248	hsa-miR-3713	CLIP-seq
MIRT1376249	hsa-miR-374c	CLIP-seq
MIRT1376250	hsa-miR-4459	CLIP-seq
MIRT1376251	hsa-miR-4517	CLIP-seq
MIRT1376252	hsa-miR-4520a-3p	CLIP-seq
MIRT1376253	hsa-miR-4520b-3p	CLIP-seq
MIRT1376254	hsa-miR-488	CLIP-seq
MIRT1376255	hsa-miR-495	CLIP-seq
MIRT1376256	hsa-miR-500b	CLIP-seq
MIRT1376257	hsa-miR-501-5p	CLIP-seq
MIRT1376258	hsa-miR-506	CLIP-seq
MIRT1376259	hsa-miR-548ac	CLIP-seq
MIRT1376260	hsa-miR-548ae	CLIP-seq
MIRT1376261	hsa-miR-548aj	CLIP-seq
MIRT1376262	hsa-miR-548am	CLIP-seq
MIRT1376263	hsa-miR-548an	CLIP-seq
MIRT1376264	hsa-miR-548d-3p	CLIP-seq
MIRT1376265	hsa-miR-548g	CLIP-seq
MIRT1376266	hsa-miR-548o	CLIP-seq
MIRT1376267	hsa-miR-548x	CLIP-seq
MIRT1376268	hsa-miR-548z	CLIP-seq
MIRT1376269	hsa-miR-613	CLIP-seq
MIRT1376270	hsa-miR-655	CLIP-seq
MIRT2111856	hsa-miR-1229	CLIP-seq
MIRT1376237	hsa-miR-1237	CLIP-seq
MIRT1376239	hsa-miR-1248	CLIP-seq
MIRT1376240	hsa-miR-1323	CLIP-seq
MIRT1376242	hsa-miR-23a	CLIP-seq
MIRT1376243	hsa-miR-23b	CLIP-seq
MIRT1376244	hsa-miR-23c	CLIP-seq
MIRT2111857	hsa-miR-302a	CLIP-seq
MIRT2111858	hsa-miR-302b	CLIP-seq
MIRT2111859	hsa-miR-302c	CLIP-seq
MIRT2111860	hsa-miR-302d	CLIP-seq
MIRT2111861	hsa-miR-302e	CLIP-seq
MIRT2111862	hsa-miR-3065-5p	CLIP-seq
MIRT1376245	hsa-miR-338-5p	CLIP-seq
MIRT1376246	hsa-miR-362-5p	CLIP-seq
MIRT1376248	hsa-miR-3713	CLIP-seq
MIRT2111863	hsa-miR-372	CLIP-seq
MIRT2111864	hsa-miR-373	CLIP-seq
MIRT1376249	hsa-miR-374c	CLIP-seq
MIRT2111865	hsa-miR-3922-5p	CLIP-seq
MIRT2111866	hsa-miR-4328	CLIP-seq
MIRT2111867	hsa-miR-433	CLIP-seq
MIRT1376251	hsa-miR-4517	CLIP-seq
MIRT1376252	hsa-miR-4520a-3p	CLIP-seq
MIRT1376253	hsa-miR-4520b-3p	CLIP-seq
MIRT1376255	hsa-miR-495	CLIP-seq
MIRT1376256	hsa-miR-500b	CLIP-seq
MIRT1376257	hsa-miR-501-5p	CLIP-seq
MIRT2111868	hsa-miR-513c	CLIP-seq
MIRT2111869	hsa-miR-514b-5p	CLIP-seq
MIRT2111870	hsa-miR-520a-3p	CLIP-seq
MIRT2111871	hsa-miR-520b	CLIP-seq
MIRT2111872	hsa-miR-520c-3p	CLIP-seq
MIRT2111873	hsa-miR-520d-3p	CLIP-seq
MIRT2111874	hsa-miR-520e	CLIP-seq
MIRT1376265	hsa-miR-548g	CLIP-seq
MIRT1376266	hsa-miR-548o	CLIP-seq
MIRT1376270	hsa-miR-655	CLIP-seq
MIRT2111856	hsa-miR-1229	CLIP-seq
MIRT1376237	hsa-miR-1237	CLIP-seq
MIRT1376239	hsa-miR-1248	CLIP-seq
MIRT1376240	hsa-miR-1323	CLIP-seq
MIRT2335172	hsa-miR-216a	CLIP-seq
MIRT1376242	hsa-miR-23a	CLIP-seq
MIRT1376243	hsa-miR-23b	CLIP-seq
MIRT1376244	hsa-miR-23c	CLIP-seq
MIRT2111857	hsa-miR-302a	CLIP-seq
MIRT2111858	hsa-miR-302b	CLIP-seq
MIRT2111859	hsa-miR-302c	CLIP-seq
MIRT2111860	hsa-miR-302d	CLIP-seq
MIRT2111861	hsa-miR-302e	CLIP-seq
MIRT2111862	hsa-miR-3065-5p	CLIP-seq
MIRT1376246	hsa-miR-362-5p	CLIP-seq
MIRT1376248	hsa-miR-3713	CLIP-seq
MIRT2111863	hsa-miR-372	CLIP-seq
MIRT2111864	hsa-miR-373	CLIP-seq
MIRT1376249	hsa-miR-374c	CLIP-seq
MIRT2111865	hsa-miR-3922-5p	CLIP-seq
MIRT2335173	hsa-miR-3942-3p	CLIP-seq
MIRT2335174	hsa-miR-4264	CLIP-seq
MIRT1376252	hsa-miR-4520a-3p	CLIP-seq
MIRT1376253	hsa-miR-4520b-3p	CLIP-seq
MIRT2335175	hsa-miR-4762-3p	CLIP-seq
MIRT2335176	hsa-miR-4797-3p	CLIP-seq
MIRT1376255	hsa-miR-495	CLIP-seq
MIRT1376256	hsa-miR-500b	CLIP-seq
MIRT1376257	hsa-miR-501-5p	CLIP-seq
MIRT2111868	hsa-miR-513c	CLIP-seq
MIRT2111869	hsa-miR-514b-5p	CLIP-seq
MIRT2111870	hsa-miR-520a-3p	CLIP-seq
MIRT2111871	hsa-miR-520b	CLIP-seq
MIRT2111872	hsa-miR-520c-3p	CLIP-seq
MIRT2111873	hsa-miR-520d-3p	CLIP-seq
MIRT2111874	hsa-miR-520e	CLIP-seq
MIRT1376259	hsa-miR-548ac	CLIP-seq
MIRT1376260	hsa-miR-548ae	CLIP-seq
MIRT1376261	hsa-miR-548aj	CLIP-seq
MIRT1376262	hsa-miR-548am	CLIP-seq
MIRT1376264	hsa-miR-548d-3p	CLIP-seq
MIRT1376265	hsa-miR-548g	CLIP-seq
MIRT1376266	hsa-miR-548o	CLIP-seq
MIRT1376267	hsa-miR-548x	CLIP-seq
MIRT1376268	hsa-miR-548z	CLIP-seq
MIRT2335177	hsa-miR-622	CLIP-seq
MIRT1376270	hsa-miR-655	CLIP-seq
MIRT2460133	hsa-miR-1245b-5p	CLIP-seq
MIRT2460134	hsa-miR-139-5p	CLIP-seq
MIRT2460135	hsa-miR-200b	CLIP-seq
MIRT2460136	hsa-miR-200c	CLIP-seq
MIRT2460137	hsa-miR-3142	CLIP-seq
MIRT2460138	hsa-miR-3659	CLIP-seq
MIRT2460139	hsa-miR-371b-5p	CLIP-seq
MIRT2460140	hsa-miR-3942-5p	CLIP-seq
MIRT2460141	hsa-miR-429	CLIP-seq
MIRT2460142	hsa-miR-4650-5p	CLIP-seq
MIRT2460143	hsa-miR-4698	CLIP-seq
MIRT2460144	hsa-miR-4703-5p	CLIP-seq
MIRT2460145	hsa-miR-498	CLIP-seq
MIRT2460146	hsa-miR-664	CLIP-seq
MIRT2460135	hsa-miR-200b	CLIP-seq
MIRT2460136	hsa-miR-200c	CLIP-seq
MIRT2460138	hsa-miR-3659	CLIP-seq
MIRT2460140	hsa-miR-3942-5p	CLIP-seq
MIRT2460141	hsa-miR-429	CLIP-seq
MIRT2460144	hsa-miR-4703-5p	CLIP-seq
MIRT2460134	hsa-miR-139-5p	CLIP-seq
MIRT2460139	hsa-miR-371b-5p	CLIP-seq
MIRT2460143	hsa-miR-4698	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	NAS	2974536
GO:0000387	Process	Spliceosomal snRNP assembly	IBA	21873635
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000387	Process	Spliceosomal snRNP assembly	TAS
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9417867, 11714716, 11748230, 12065586, 14667819, 15231747, 15939020, 17332742, 18984161, 22365833, 28514442, 30021884, 32296183
GO:0005634	Component	Nucleus	IDA	23246290, 28076346
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	NAS	2974536
GO:0005682	Component	U5 snRNP	IBA	21873635
GO:0005683	Component	U7 snRNP	IDA	11574479
GO:0005685	Component	U1 snRNP	IBA	21873635
GO:0005685	Component	U1 snRNP	IDA	21113136, 25555158
GO:0005686	Component	U2 snRNP	IBA	21873635
GO:0005687	Component	U4 snRNP	IBA	21873635
GO:0005687	Component	U4 snRNP	IDA	21516107
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	TAS
GO:0006369	Process	Termination of RNA polymerase II transcription	TAS
GO:0008334	Process	Histone mRNA metabolic process	TAS
GO:0030532	Component	Small nuclear ribonucleoprotein complex	NAS	2974536
GO:0034709	Component	Methylosome	IDA	18984161
GO:0034715	Component	PICln-Sm protein complex	IDA	18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0042633	Process	Hair cycle	IMP	23246290
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA	21873635
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	26912367
GO:0051170	Process	Import into nucleus	TAS
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071011	Component	Precatalytic spliceosome	IBA	21873635
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

Other IDs

• MIM: 128260
• HGNC: 11161
• e!Ensembl: ENSG00000182004

Protein

• UniProt ID: P62304
• Protein name: Small nuclear ribonucleoprotein E (snRNP-E) (Sm protein E) (Sm-E) (SmE)
• Protein function: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23246290, Pu
• 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, 6V4X, 6Y53, 6Y5Q, 7A5P, 7ABG, 7ABI, 7B0Y, 7DVQ, 7EVO, 7QTT, 7VPX, 7W59, 7W5A, 7W5B, 8C6J, 8CH6, 8H6E, 8H6J, 8H6K, 8H6L, 8HK1, 8I0P, 8I0R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01423	LSM	23 → 89	LSM domain	Domain

• Sequence:

  MAYRGQGQKVQKVMVQPINLIFRYLQNRSRIQVWLYEQVNMRIEGCIIGFDEYMNLVLDD
  AEEIHSKTKSRKQLGRIMLKGDNITLLQSVSN

• Sequence length: 92

Pathways

KEGG:

Spliceosome

Reactome:

SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hypotrichosis	Hypotrichosis, HYPOTRICHOSIS 11	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121	23246290, 9621144
Hypotrichosis simplex	Hypotrichosis simplex	rs121913026, rs201249971	23246290

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia