Human Gene SNRPE (ENST00000414487.7) from GENCODE V44
  Description: Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), transcript variant 1, mRNA. (from RefSeq NM_003094)
RefSeq Summary (NM_003094): 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].
Gencode Transcript: ENST00000414487.7
Gencode Gene: ENSG00000182004.13
Transcript (Including UTRs)
   Position: hg38 chr1:203,861,599-203,871,152 Size: 9,554 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr1:203,861,660-203,869,932 Size: 8,273 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:203,861,599-203,871,152)mRNA (may differ from genome)Protein (92 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RUXE_HUMAN
DESCRIPTION: RecName: Full=Small nuclear ribonucleoprotein E; Short=snRNP-E; AltName: Full=Sm protein E; Short=Sm-E; Short=SmE;
FUNCTION: Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Associated with snRNP U1, U2, U4/U6 and U5.
SUBUNIT: Component of the heptameric ring U7 snRNP complex, or U7 Sm protein core complex, at least composed of LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF, SNRPG and U7 snRNA. Formation of the U7 snRNP is an ATP-dependent process mediated by a specialized SMN complex containing at least the Sm protein core complex and additionally, the U7-specific LSM10 and LSM11 proteins. Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome.
INTERACTION: Q8TEQ6:GEMIN5; NbExp=2; IntAct=EBI-348082, EBI-443630;
SUBCELLULAR LOCATION: Nucleus.
MISCELLANEOUS: Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins.
SIMILARITY: Belongs to the snRNP Sm proteins family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNRPE
Diseases sorted by gene-association score: hypotrichosis 11* (1328), hypotrichosis simplex* (164), hypotrichosis (21), rubeosis iridis (11), nodular nonsuppurative panniculitis (11), skin papilloma (7), epileptic encephalopathy, early infantile, 6 (5), neonatal period electroclinical syndrome (5), lennox-gastaut syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.28 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 903.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.2061-0.233 Picture PostScript Text
3' UTR -331.801220-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010920 - LSM_dom
IPR001163 - Ribonucl_LSM
IPR006649 - Ribonucl_LSM_euk/arc

Pfam Domains:
PF01423 - LSM domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2Y9A - X-ray 2Y9B - X-ray 2Y9C - X-ray 2Y9D - X-ray 3CW1 - X-ray MuPIT 3PGW - X-ray 3S6N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P62304
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGI EnsemblEnsemblWormBaseSGD
Protein Sequence Protein SequenceProtein SequenceProtein SequenceProtein Sequence
Alignment AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0000387 spliceosomal snRNP assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006369 termination of RNA polymerase II transcription
GO:0006397 mRNA processing
GO:0008334 histone mRNA metabolic process
GO:0008380 RNA splicing
GO:0042633 hair cycle
GO:0051170 nuclear import

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005682 U5 snRNP
GO:0005683 U7 snRNP
GO:0005685 U1 snRNP
GO:0005686 U2 snRNP
GO:0005687 U4 snRNP
GO:0005689 U12-type spliceosomal complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030532 small nuclear ribonucleoprotein complex
GO:0034709 methylosome
GO:0034715 pICln-Sm protein complex
GO:0034719 SMN-Sm protein complex
GO:0046540 U4/U6 x U5 tri-snRNP complex
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome
GO:0005697 telomerase holoenzyme complex


-  Descriptions from all associated GenBank mRNAs
  LF205351 - JP 2014500723-A/12854: Polycomb-Associated Non-Coding RNAs.
MA440928 - JP 2018138019-A/12854: Polycomb-Associated Non-Coding RNAs.
D28435 - Homo sapiens mRNA for U1/U2 snRNP E, 5'UTR region.
AK307255 - Homo sapiens cDNA, FLJ97203.
LF213697 - JP 2014500723-A/21200: Polycomb-Associated Non-Coding RNAs.
MA449274 - JP 2018138019-A/21200: Polycomb-Associated Non-Coding RNAs.
AK309140 - Homo sapiens cDNA, FLJ99181.
AK312130 - Homo sapiens cDNA, FLJ92412, Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE),mRNA.
BC090951 - Homo sapiens small nuclear ribonucleoprotein polypeptide E, mRNA (cDNA clone MGC:105067 IMAGE:5204266), complete cds.
M37716 - Human small nuclear RNA protein E mRNA, complete cds.
X12466 - Human mRNA for snRNP E protein.
BC002639 - Homo sapiens small nuclear ribonucleoprotein polypeptide E, mRNA (cDNA clone MGC:3652 IMAGE:3609230), complete cds.
S60260 - B-raf=activated oncogene {rearranged 5' region, transfected DNA} [human, transformed NIH3T3 cells, mRNA Partial, 342 nt].
JD233100 - Sequence 214124 from Patent EP1572962.
BC072433 - Homo sapiens small nuclear ribonucleoprotein polypeptide E, mRNA (cDNA clone IMAGE:5727660).
AB464220 - Synthetic construct DNA, clone: pF1KB6729, Homo sapiens SNRPE gene for small nuclear ribonucleoprotein polypeptide E, without stop codon, in Flexi system.
KJ892178 - Synthetic construct Homo sapiens clone ccsbBroadEn_01572 SNRPE gene, encodes complete protein.
M15919 - Human autoimmune antigen small nuclear ribonucleoprotein E mRNA.
LF319545 - JP 2014500723-A/127048: Polycomb-Associated Non-Coding RNAs.
MA555122 - JP 2018138019-A/127048: Polycomb-Associated Non-Coding RNAs.
LF319543 - JP 2014500723-A/127046: Polycomb-Associated Non-Coding RNAs.
MA555120 - JP 2018138019-A/127046: Polycomb-Associated Non-Coding RNAs.
LF365996 - JP 2014500723-A/173499: Polycomb-Associated Non-Coding RNAs.
MA601573 - JP 2018138019-A/173499: Polycomb-Associated Non-Coding RNAs.
LF319541 - JP 2014500723-A/127044: Polycomb-Associated Non-Coding RNAs.
MA555118 - JP 2018138019-A/127044: Polycomb-Associated Non-Coding RNAs.
JD019241 - Sequence 265 from Patent EP1572962.
LF319540 - JP 2014500723-A/127043: Polycomb-Associated Non-Coding RNAs.
MA555117 - JP 2018138019-A/127043: Polycomb-Associated Non-Coding RNAs.
JD027883 - Sequence 8907 from Patent EP1572962.
LF319539 - JP 2014500723-A/127042: Polycomb-Associated Non-Coding RNAs.
MA555116 - JP 2018138019-A/127042: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

BioCarta from NCI Cancer Genome Anatomy Project
h_smPathway - Spliceosomal Assembly

Reactome (by CSHL, EBI, and GO)

Protein P62304 (Reactome details) participates in the following event(s):

R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation
R-HSA-75080 Formation of AT-AC A complex
R-HSA-75079 Formation of AT-AC C complex
R-HSA-191830 snRNP nuclear import and release
R-HSA-77585 Recruitment of U7 snRNP:ZFP100 complex to the SLBP Bound Pre-mRNA
R-HSA-111438 Recruitment of U7 snRNP:ZFP100 complex to the Histone Pre-mRNA
R-HSA-77586 Cleavage of the 3'-end of Replication Dependent Histone Pre-mRNA
R-HSA-111437 Cleavage of the 3'-end of the Histone Pre-mRNA
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-191786 snRNP complex assembly
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-75081 Formation of AT-AC B Complex
R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-191763 snRNP:Snurportin complex formation
R-HSA-191784 snRNA Cap hypermethylation
R-HSA-191859 snRNP Assembly
R-HSA-194441 Metabolism of non-coding RNA
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-77588 SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
R-HSA-111367 SLBP independent Processing of Histone Pre-mRNAs
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-8953854 Metabolism of RNA
R-HSA-72172 mRNA Splicing
R-HSA-75067 Processing of Capped Intronless Pre-mRNA
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5B9, ENST00000414487.1, ENST00000414487.2, ENST00000414487.3, ENST00000414487.4, ENST00000414487.5, ENST00000414487.6, NM_003094, P08578, P62304, Q15498, Q5BKT2, RUXE_HUMAN, uc001hai.1, uc001hai.2, uc001hai.3, uc001hai.4, uc001hai.5
UCSC ID: ENST00000414487.7
RefSeq Accession: NM_003094
Protein: P62304 (aka RUXE_HUMAN)
CCDS: CCDS30979.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.