SNU13
Small Nuclear Ribonucleoprotein 13 (U4/U6.U5 Tri-snRNP Component)
Gene Information Card
| Symbol | SNU13 |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein 13 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 4809 ncbi.nlm.nih.gov/gene/4809 |
| Ensembl ID | ENSG00000100138 |
| UniProt ID | P55769 |
| OMIM ID | 601304 |
| HGNC ID | 16897 |
| Aliases | NHP2L1, NHPX, OTK27, SNU13A |
Description
SNU13 (also known as NHP2L1) encodes a protein that is a core component of both the U4/U6.U5 tri-snRNP spliceosome complex and the H/ACA box small nucleolar ribonucleoprotein (snoRNP) complex. It is involved in pre-mRNA splicing and ribosomal RNA pseudouridylation, essential for RNA processing and ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis Congenita | Defective H/ACA snoRNP assembly due to SNU13 mutations leads to telomere maintenance defects | ClinVar, OMIM |
| Cancer (various) | Altered SNU13 expression or mutations may disrupt splicing and ribosome biogenesis, promoting oncogenesis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone Marrow | 32.1 | Medium |
| Brain | 18.5 | Medium |
| Liver | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 38.7 | Embryonic kidney |
| HeLa | 29.4 | Cervical carcinoma |
| K562 | 25.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.01% | Potential loss of snoRNP binding |
| c.328C>T (p.Arg110Trp) | Missense | <0.01% | Impaired spliceosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in conserved domains reduce snoRNP and spliceosome complex stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • U4 snRNA binding |
| • U6 snRNA binding | • snoRNA binding |
| • mRNA splicing via spliceosome | • rRNA pseudouridine synthesis |
Pathways
• mRNA Splicing - Major Pathway
• rRNA Processing in the Nucleolus
• Telomere Maintenance via H/ACA snoRNP
Protein Summary
The SNU13 protein (15 kDa) contains an RNA-binding domain and is essential for the assembly and stability of U4/U6.U5 tri-snRNP and H/ACA snoRNP complexes. It directly binds U4 and U6 snRNAs and H/ACA snoRNAs, facilitating pre-mRNA splicing and site-specific pseudouridylation of ribosomal RNA.
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