Gene

SNRPE

Species
Homo sapiens
Symbol
SNRPE
Name
small nuclear ribonucleoprotein polypeptide E
Synonyms
  • B-raf
  • HYPT11
Biotype
protein coding gene
Automated Description
Predicted to enable RNA binding activity. Involved in spliceosomal snRNP assembly. Located in cytosol and nucleus. Part of several cellular components, including methylosome; nucleus; and pICln-Sm protein complex. Implicated in hepatocellular carcinoma; hypotrichosis 1; hypotrichosis 11; and lupus nephritis. Biomarker of acute lymphoblastic leukemia; lung adenocarcinoma; nasopharynx carcinoma; neuroblastoma; and prostate cancer.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11193
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
203.862M203.863M203.864M203.865M203.866M203.867M203.868M203.869M203.870M203.871M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions