SNRPE
Small nuclear ribonucleoprotein E
Also known as: RUXE_HUMAN, Sm-E
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P62304
- Gene
- SNRPE
- Ensembl
- ENSG00000182004
- Chromosome
- 1
- Canonical length
- 92 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
92 residues, UniProt reviewed canonical sequence.
>P62304|SNRPE
1 MAYRGQGQKV QKVMVQPINL IFRYLQNRSR IQVWLYEQVN MRIEGCIIGF DEYMNLVLDD
61 AEEIHSKTKS RKQLGRIMLK GDNITLLQSV SNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNRPE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 93 nTPM
Expression across tissuesHPA
Tissue
- thymus: 93 nTPM
- ovary: 83 nTPM
- bone marrow: 82 nTPM
- breast: 61 nTPM
- epididymis: 56 nTPM
- tonsil: 54 nTPM
Single-cell type
- gastric progenitor cells: 660 nCPM
- migrating cytotrophoblasts: 653 nCPM
- extravillous trophoblasts: 571 nCPM
- oocytes: 507 nCPM
- cytotrophoblasts: 437 nCPM
- esophageal basal cells: 363 nCPM
Immune cell
- plasmacytoid DC: 46 nTPM
- NK-cell: 37 nTPM
- myeloid DC: 34 nTPM
- MAIT T-cell: 30 nTPM
- naive CD4 T-cell: 27 nTPM
- memory CD4 T-cell: 27 nTPM
Brain region
- choroid plexus: 39 nTPM
- cerebellum: 38 nTPM
- white matter: 37 nTPM
- hypothalamus: 33 nTPM
- spinal cord: 33 nTPM
- pons: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNRPE.
Disease | AllUniProt
Conditions SNRPE is implicated in, by any mechanism.
- Hypotrichosis 11 (HYPT11) MIM:615059
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 36 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypotrichosis 11
- Long QT syndrome 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.39
- gnomAD pLI
- 0.91
- gnomAD missense Z
- 1.32
- DepMap mean gene effect
- -1.92
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 7-methylguanosine cap hypermethylation
- mRNA splicing, via spliceosome
- spliceosomal complex assembly
- spliceosomal snRNP assembly
- U2-type prespliceosome assembly
Molecular functions
Cellular components
- catalytic step 2 spliceosome
- cytosol
- methylosome
- nucleoplasm
- nucleus
- pICln-Sm protein complex
- precatalytic spliceosome
- small nuclear ribonucleoprotein complex
- SMN-Sm protein complex
- spliceosomal complex
- telomerase holoenzyme complex
- U1 snRNP
- U12-type spliceosomal complex
- U2 snRNP
- U2-type catalytic step 2 spliceosome
- U2-type precatalytic spliceosome
- U2-type spliceosomal complex
- U4 snRNP
- U4/U6 x U5 tri-snRNP complex
- U5 snRNP
- U7 snRNP
Protein domainsUniProt · Pfam · InterPro
- Sm domain, eukaryotic/archaea-type
- LSM domain superfamily
- Sm domain
- LSM domain
- Small nuclear ribonucleoprotein E
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNRPE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNRPE as an antibody target. Whether an autoantibody or antibody against SNRPE could matter depends on whether native SNRPE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNRPE is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis.
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