SNRPE small nuclear ribonucleoprotein polypeptide E [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNRPEprovided by HGNC
Official Full Name: small nuclear ribonucleoprotein polypeptide Eprovided by HGNC
Primary source: HGNC:HGNC:11161
See related: Ensembl:ENSG00000182004 MIM:128260; AllianceGenome:HGNC:11161
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SME; Sm-E; HYPT11; snRNP-E
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]
Expression: Ubiquitous expression in colon (RPKM 16.8), ovary (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (203861599..203871152)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (203125550..203135078)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203830727..203840280)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study reports de novo heterozygous missense mutation within the SNRPE gene disturbing appropriate spatiotemporal gene expression in the brain through aberrant mRNA splicing, and likely to cause the microcephaly phenotype.
Title: A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.
Overexpression of SNRPE is associated with highly aggressive breast cancers.
Title: Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy.
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex
Title: Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
growth arrest by SmE directly correlates with the reduction of cyclin E, CDK2, CDC25C and CDC2 expression, and up-regulation of p27Kip
Title: Spliceosomal protein E regulates neoplastic cell growth by modulating expression of cyclin E/CDK2 and G2/M checkpoint proteins.
In the SME intron, the position of the branchpoint A residue within the region base paired with U12 differs from that in P120 and XTF.
Title: Branchpoint selection in the splicing of U12-dependent introns in vitro.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypotrichosis 11 MedGen: C3554409 OMIM: 615059 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, small nuclear ribonucleoprotein polypeptide E (SNRPE), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with SNRPE is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BRAF (e-PCR)
- UniSTS:55090

D1S3358 (e-PCR)
- UniSTS:19130

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 7-methylguanosine cap hypermethylation	NAS Non-traceable Author Statement more info	PubMed
involved_in U2-type prespliceosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in spliceosomal complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal snRNP assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of SMN-Sm protein complex	IDA Inferred from Direct Assay more info	PubMed
part_of U1 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U1 snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of U1 snRNP	IPI Inferred from Physical Interaction more info	PubMed
part_of U1 snRNP	NAS Non-traceable Author Statement more info	PubMed
part_of U12-type spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed
part_of U2 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U2 snRNP	NAS Non-traceable Author Statement more info	PubMed
part_of U2-type catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed
part_of U4 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U4 snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of U4 snRNP	NAS Non-traceable Author Statement more info	PubMed
part_of U4/U6 x U5 tri-snRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of U4/U6 x U5 tri-snRNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of U4/U6 x U5 tri-snRNP complex	IPI Inferred from Physical Interaction more info	PubMed
part_of U5 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U5 snRNP	NAS Non-traceable Author Statement more info	PubMed
part_of U7 snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of methylosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of pICln-Sm protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of pICln-Sm protein complex	IDA Inferred from Direct Assay more info	PubMed
part_of precatalytic spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of small nuclear ribonucleoprotein complex	NAS Non-traceable Author Statement more info	PubMed
part_of spliceosomal complex	IPI Inferred from Physical Interaction more info	PubMed
part_of spliceosomal complex	NAS Non-traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: small nuclear ribonucleoprotein E

Names: sm protein E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_050954.2 RefSeqGene

Range

5002..14555

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304464.2 → NP_001291393.1 small nuclear ribonucleoprotein E isoform 2

See identical proteins and their annotated locations for NP_001291393.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses two alternate splice junctions in the 5' end compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC114402, AC118554

UniProtKB/Swiss-Prot

P62304

Conserved Domains (1) summary

cd01718
Location:11 → 81

Sm_E; Sm protein E
NM_001328637.2 → NP_001315566.1 small nuclear ribonucleoprotein E isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC114402, AC118554

UniProtKB/Swiss-Prot

P62304
NM_001328638.2 → NP_001315567.1 small nuclear ribonucleoprotein E isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC114402, AC118554

UniProtKB/Swiss-Prot

P62304
NM_003094.4 → NP_003085.1 small nuclear ribonucleoprotein E isoform 1

See identical proteins and their annotated locations for NP_003085.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC114402, AC118554

Consensus CDS

CCDS30979.1

UniProtKB/Swiss-Prot

B2R5B9, P08578, P62304, Q15498, Q5BKT2

Related

ENSP00000400591.2, ENST00000414487.7

Conserved Domains (1) summary

cd01718
Location:11 → 89

Sm_E; Sm protein E

RNA

NR_130746.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) utilizes an alternate splice junction in the 5' end and lacks an alternate in-frame exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC114402, AC118554