SNIP1 Gene - Smad Nuclear Interacting Protein 1
A key regulator of TGF-beta signaling and RNA processing with implications in cancer and developmental disorders
Gene Information Card
| Symbol | SNIP1 |
|---|---|
| Full Name | Smad Nuclear Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 79753 ncbi.nlm.nih.gov/gene/79753 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8TAD8 |
| OMIM ID | 608241 |
| HGNC ID | 30587 |
| Aliases | PMEPA1, dJ423B22.1, FLJ12443, MGC131970 |
Description
SNIP1 (Smad Nuclear Interacting Protein 1) encodes a nuclear protein that interacts with Smad proteins, modulating TGF-beta signaling. It also functions in RNA processing and transcriptional regulation. SNIP1 is involved in cell proliferation, differentiation, and apoptosis, and its dysregulation is linked to various cancers and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | SNIP1 overexpression or mutation alters TGF-beta signaling, promoting tumor growth and metastasis. | COSMIC; PMID: 21502545 |
| Developmental disorders | SNIP1 mutations disrupt RNA processing and Smad signaling, leading to craniofacial and skeletal abnormalities. | OMIM #608241; PMID: 23541340 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 10.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| A549 | 11.8 | Lung cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| MCF7 | 7.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Alters Smad binding, potential gain of function |
| c.250_251insA | Frameshift | <0.1% | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing Smad interaction and RNA processing.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg34Trp) that enhance Smad binding or alter downstream signaling.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type SNIP1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Smad-dependent signaling (Reactome: R-HSA-2173791)
Protein Summary
SNIP1 is a 396-amino acid nuclear protein containing a Smad-binding domain and an RNA recognition motif. It shuttles between the nucleus and cytoplasm, regulating TGF-beta signaling by interacting with Smad4 and Smad2/3. It also participates in pre-mRNA splicing and processing. The protein is expressed in multiple tissues, with highest levels in testis and lung.
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