SNRPE - small nuclear ribonucleoprotein polypeptide E Gene

Also Known as SME; Sm-E; HYPT11; snRNP-E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6635

About SNRPE

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,861,599-203,871,152 (from NCBI)

This gene has 6 transcripts (splice variants), 178 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 16.8), ovary (RPKM 16.5) and 25 other tissues.

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 one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]

SNRPE Products (4)

mRNA	Protein	Name
NM_001304464.2	NP_001291393.1	small nuclear ribonucleoprotein E isoform 2
NM_001328637.2	NP_001315566.1	small nuclear ribonucleoprotein E isoform 3
NM_001328638.2	NP_001315567.1	small nuclear ribonucleoprotein E isoform 4
NM_003094.4	NP_003085.1	small nuclear ribonucleoprotein E isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9417867	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
involved in spliceosomal snRNP assembly	IDA IDA: Inferred from direct assay	18984161	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SMN-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
part of U1 snRNP	IDA IDA: Inferred from direct assay	21113136	GOA
part of U1 snRNP	IPI IPI: Inferred from physical interaction	33677607	GOA
part of U12-type spliceosomal complex	IDA IDA: Inferred from direct assay	15146077	GOA
part of U2-type catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
part of U2-type spliceosomal complex	IDA IDA: Inferred from direct assay	32494006	GOA
part of U4 snRNP	IDA IDA: Inferred from direct assay	21516107	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	26912367	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of U7 snRNP	IDA IDA: Inferred from direct assay	11574479	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18984161	GOA
part of methylosome	IDA IDA: Inferred from direct assay	18984161	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23246290	GOA
part of pICln-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
part of spliceosomal complex	IPI IPI: Inferred from physical interaction	33677607	GOA
part of telomerase holoenzyme complex	IDA IDA: Inferred from direct assay	18082603	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNRPE Protein Structure

LSM

0
92 a.a.

Protein Preferred Names	Protein Names
small nuclear ribonucleoprotein E	sm protein E

SNRPE Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SNRPE	P62304	SF3A2	Homo sapiens	Q15428	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	SF3A2	Homo sapiens	Q15428	Anti Tag CoIP	28514442
Intra	SNRPE	P62304	LSM2	Homo sapiens	Q9Y333	Anti Tag CoIP	28514442
Intra	SNRPE	P62304	LSM2	Homo sapiens	Q9Y333	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Validated Y2H	32296183
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Y2H Array	32296183
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Anti Tag CoIP	28514442
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Comig Non-Denat Gel	18984161
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Y2H	9417867
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Y2H Prey Pooling	32296183
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	Y2H	22365833
Intra	SNRPE	P62304	SNRPF	Homo sapiens	P62306	GMS	18984161
Intra	SNRPE	P62304	LSM5	Homo sapiens	Q9Y4Y9	Validated Y2H	32296183
Intra	SNRPE	P62304	LSM5	Homo sapiens	Q9Y4Y9	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	GEMIN5	Homo sapiens	Q8TEQ6	Anti Tag CoIP	28514442
Intra	SNRPE	P62304	GEMIN5	Homo sapiens	Q8TEQ6	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	SNRPG	Homo sapiens	P62308	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	SNRPG	Homo sapiens	P62308	Validated Y2H	32296183
Intra	SNRPE	P62304	SNRPG	Homo sapiens	P62308	GMS	18984161
Intra	SNRPE	P62304	SNRPG	Homo sapiens	P62308	Comig Non-Denat Gel	18984161
Intra	SNRPE	P62304	SNRPG	Homo sapiens	P62308	Y2H	9417867
Intra	SNRPE	P62304	GEMIN6	Homo sapiens	Q8WXD5	Anti Tag CoIP	33961781
Intra	SNRPE	P62304	GEMIN6	Homo sapiens	Q8WXD5	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hypotrichosis 11	HYPT11 Hypotrichosis, Type 11
Hypotrichosis Simplex	Hereditary Hypotrichosis Simplex Hhs
Hypotrichosis
Hypotrichosis 7	Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis HYPT7 Hypotrichosis, Localized, Autosomal Recessive 2 Lah2 Ah Total Hypotrichosis, Mari Type Wh/Ht Hypotrichosis, Autosomal Recessive Hypotrichosis, Total, Mari Type Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis Total Mari Type Hypotrichosis Alopecia Universalis Congenita, Mari Type Mari Type Alopecia Universalis Congenita Autosomal Recessive Hypotrichosis Autosomal Recessive Localized Hypotrichosis Autosomal Recessive Woolly Hair With Or Without Hypotrichosis Htl Hypotrichoses Hypotrichosis Lah Alopecia Universalis Congenita Mari Type Hypotrichosis Autosomal Recessive Hypotrichosis Localized Autosomal Recessive 2 Total Hypotrichosis Mari Type Woolly Hair Autosomal Recessive 2 ARWH2 Woolly Hair Autosomal Recessive 2 With Or Without Hypotrichosis
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Hypotrichosis 4	HYPT4 Marie Unna Hereditary Hypotrichosis 1 Muhh1 Hypotrichosis, Marie Unna Type, 1 Hypotrichosis Marie Unna 1 Marie Unna Hereditary Hypotrichosis Type 1 Hypotrichosis, Hereditary, Marie Unna Type, 1 Hypotrichosis, Type 4
Hypotrichosis 6	HYPT6 Lah1 Hypotrichosis, Localized, Autosomal Recessive Monilethrix-Like Hypotrichosis Hypotrichosis, Localized, Autosomal Recessive 1 Lah Htl Autosomal Recessive Localized Hypotrichosis Hypotrichosis Localized Autosomal Recessive Hypotrichosis Localized Autosomal Recessive 1 Hypotrichosis, Type 6
Hypotrichosis 8	HYPT8 Lah3 Hypotrichosis, Localized, Autosomal Recessive 3 Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis Hypotrichosis Localized Autosomal Recessive 3 Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis ARWH1 Hypotrichosis, Type 8
Hypotrichosis 13	HYPT13 Hypotrichosis With Woolly Hair Hypotrichosis, Type 13
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13508	SNRPE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SNRPE	MGD	MGI:98346
Rattus norvegicus	SNRPE	RGD	RGD:2321675
Macaca mulatta	SNRPE	VGNC	VGNC:100145
Others	SNRPE	NCBI