Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6635
Gene name	Small nuclear ribonucleoprotein polypeptide E
Gene symbol	SNRPE
Synonyms (NCBI Gene)	HYPT11SMESm-EsnRNP-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

Show/Hide all (2)

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

173

Show/Hide all (173)

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

Show/Hide all (52)

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

MIM	HGNC	e!Ensembl
128260	11161	ENSG00000182004

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

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypotrichosis 11	Pathogenic	rs2546410020, rs2546413977, rs587776925	RCV003991063 RCV003991064 RCV000032702

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial pancreatic carcinoma	Uncertain significance	rs183028927	RCV005938718
Gastric cancer	Uncertain significance	rs183028927	RCV005938719
Lymphoma	Uncertain significance	rs183028927	RCV005938720
SNRPE-related disorder	Likely benign; Benign; Uncertain significance	rs368312879, rs1166262004, rs879398581, rs183028927	RCV003909274 RCV003981484 RCV003959341 RCV003914322

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	22876301
Breast Neoplasms	Associate	37098488, 39940786
Carcinoma Hepatocellular	Stimulate	37014321
Hypotrichosis simplex	Associate	23246290
Lung Neoplasms	Associate	22876301
Neoplasms	Inhibit	18208561
Urinary Bladder Neoplasms	Associate	25907251

SNRPE (small nuclear ribonucleoprotein polypeptide E)