SNRPD1: Small Nuclear Ribonucleoprotein D1 Polypeptide
A core component of the spliceosome involved in pre-mRNA splicing and linked to cancer and autoimmune disease
Gene Information Card
| Symbol | SNRPD1 |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein D1 Polypeptide |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 6632 ncbi.nlm.nih.gov/gene/6632 |
| Ensembl ID | ENSG00000167088 |
| UniProt ID | P62314 |
| OMIM ID | 601063 |
| HGNC ID | 11155 |
| Aliases | Sm-D1, SMD1, snRNP core protein D1 |
Description
SNRPD1 encodes the Sm-D1 protein, a core component of the U1, U2, U4/U6, and U5 small nuclear ribonucleoprotein (snRNP) complexes. These complexes form the spliceosome, which catalyzes pre-mRNA splicing. Sm-D1 contains a conserved Sm domain that mediates RNA binding and protein-protein interactions. The protein is also a target of autoantibodies in systemic lupus erythematosus (SLE).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Autoantibodies against Sm-D1 contribute to immune complex deposition and tissue damage | ClinVar, OMIM |
| Breast cancer | Overexpression of SNRPD1 correlates with poor prognosis and altered splicing | COSMIC, NCBI PubMed |
| Colorectal cancer | SNRPD1 upregulation promotes cell proliferation and tumor growth | COSMIC, NCBI PubMed |
| Lung cancer | SNRPD1 amplification associated with splicing dysregulation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 35.1 | High |
| Spleen | 32.8 | High |
| Bone marrow | 30.5 | High |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.1 | Cervical cancer cell line |
| K562 | 38.5 | Leukemia cell line |
| A549 | 35.2 | Lung cancer cell line |
| MCF7 | 33.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | p.Met1Val; potential loss of start codon |
| c.214G>A | Missense | <0.1% | p.Gly72Arg; affects Sm domain |
| c.325C>T | Nonsense | <0.1% | p.Gln109*; truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the Sm domain are predicted to impair snRNP assembly and splicing.
Gain of Function (GOF)
Not reported; SNRPD1 mutations are typically loss-of-function or neutral.
Dominant Negative (DN)
Missense mutations in the Sm domain may interfere with snRNP complex formation, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
• Formation of the Spliceosomal E Complex (Reactome R-HSA-76046)
Protein Summary
Sm-D1 is a 119-amino acid protein (13.3 kDa) that contains an N-terminal Sm domain (residues 1-80) followed by a C-terminal tail. It forms a heptameric ring with other Sm proteins (B/B', D2, D3, E, F, G) that binds to the Sm site of U-rich snRNAs. This assembly is essential for snRNP biogenesis and pre-mRNA splicing. Post-translational modifications include symmetric dimethylation of arginine residues, which influences autoantibody recognition in SLE.
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