SNRPE - small nuclear ribonucleoprotein polypeptide E Gene

Homo sapiens

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

Gene ID: 6635 | Gene type: protein coding

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

SNRPE Protein Structure

LSM

0
92 a.a.

Protein Preferred Names

Protein Names

small nuclear ribonucleoprotein E

sm protein E

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

Bioactive Molecules (1)

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

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