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

Gene ID: 6635, updated on 10-Dec-2024

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
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Genomic context

See SNRPE in Genome Data Viewer
Location:
1q32.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203861599..203871152)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (203125550..203135078)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203830727..203840280)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 11A Neighboring gene charged multivesicular body protein 5 pseudogene Neighboring gene zinc finger BED-type containing 6 Neighboring gene MPRA-validated peak661 silencer Neighboring gene ribosomal protein L35a pseudogene 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:203810670-203811170 Neighboring gene Sharpr-MPRA regulatory region 5904 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203831257-203831832 Neighboring gene keratin 8 pseudogene 29 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:203857413-203858612 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypotrichosis 11
MedGen: C3554409 OMIM: 615059 GeneReviews: Not available
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HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding  
enables protein binding PubMed 
Items 1 - 20 of 34
Component Evidence Code Pubs
part_of SMN-Sm protein complex PubMed 
part_of U1 snRNP  
part_of U1 snRNP PubMed 
part_of U1 snRNP PubMed 
part_of U1 snRNP PubMed 
part_of U12-type spliceosomal complex PubMed 
part_of U2 snRNP  
part_of U2 snRNP PubMed 
part_of U2-type catalytic step 2 spliceosome PubMed 
part_of U2-type precatalytic spliceosome PubMed 
part_of U2-type spliceosomal complex PubMed 
part_of U4 snRNP  
part_of U4 snRNP PubMed 
part_of U4 snRNP PubMed 
part_of U4/U6 x U5 tri-snRNP complex  
part_of U4/U6 x U5 tri-snRNP complex PubMed 
part_of U4/U6 x U5 tri-snRNP complex PubMed 
part_of U5 snRNP  
part_of U5 snRNP PubMed 
part_of U7 snRNP PubMed 
part_of catalytic step 2 spliceosome PubMed 
located_in cytosol PubMed 
located_in cytosol  
part_of methylosome PubMed 
located_in nucleoplasm  
located_in nucleus PubMed 
located_in nucleus PubMed 
part_of pICln-Sm protein complex  
part_of pICln-Sm protein complex PubMed 
part_of precatalytic spliceosome  
part_of small nuclear ribonucleoprotein complex PubMed 
part_of spliceosomal complex PubMed 
part_of spliceosomal complex PubMed 
part_of telomerase holoenzyme complex PubMed 
Items 1 - 20 of 34

General protein information

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

  1. NG_050954.2 RefSeqGene

    Range
    5002..14555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304464.2NP_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:1181
    Sm_E; Sm protein E
  2. NM_001328637.2NP_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
  3. NM_001328638.2NP_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
  4. NM_003094.4NP_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:1189
    Sm_E; Sm protein E

RNA

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    203861599..203871152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    203125550..203135078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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