SNRPE (small nuclear ribonucleoprotein polypeptide E)

Gene

• Entrez ID: 6635
• Gene name: Small nuclear ribonucleoprotein polypeptide E
• Gene symbol: SNRPE
• Synonyms (NCBI Gene): 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
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346, 32494006, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	15564372, 30975767, 31744343, 33677607
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9417867, 10500148, 11714716, 11748230, 12065586, 14667819, 15231747, 15939020, 17332742, 18984161, 22365833, 28514442, 30021884, 31799625, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	23246290, 28076346
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	21113136, 30975767, 31744343
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767, 33677607
GO:0005681	Component	Spliceosomal complex	NAS	2974536, 31744343
GO:0005682	Component	U5 snRNP	IBA
GO:0005682	Component	U5 snRNP	NAS	15564372
GO:0005683	Component	U7 snRNP	IDA	11574479
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 36797247
GO:0005685	Component	U1 snRNP	IBA
GO:0005685	Component	U1 snRNP	IDA	21113136, 25555158
GO:0005685	Component	U1 snRNP	IPI	33677607
GO:0005685	Component	U1 snRNP	NAS	15564372
GO:0005686	Component	U2 snRNP	IBA
GO:0005686	Component	U2 snRNP	NAS	15564372, 31744343
GO:0005687	Component	U4 snRNP	IBA
GO:0005687	Component	U4 snRNP	IDA	21516107
GO:0005687	Component	U4 snRNP	NAS	15564372
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	NAS	2974536
GO:0034709	Component	Methylosome	IDA	18984161
GO:0034715	Component	PICln-Sm protein complex	IBA
GO:0034715	Component	PICln-Sm protein complex	IDA	18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0036261	Process	7-methylguanosine cap hypermethylation	NAS	15564372
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	26912367
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
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
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343
GO:1990904	Component	Ribonucleoprotein complex	IEA

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

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the dermis. {ECO:0000269|PubMed:23246290}.
• 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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypotrichosis 11	Pathogenic	rs2546410020, rs2546413977, rs587776925	RCV003991063 RCV003991064 RCV000032702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial pancreatic carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNRPE-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37098488, 39940786	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37014321	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	31671093		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	16309669		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 11	Hypotrichosis	GENOMICS_ENGLAND_DG	23246290, 9621144		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 11	Hypotrichosis	UNIPROT_DG	23246290		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 11	Hypotrichosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	23246290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	ORPHANET_DG	23246290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	Pubtator	23246290	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	31671093		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22876301	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31671093		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21688285		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25907251	Associate	★☆☆☆☆ Found in Text Mining only