SPIN1 (Spindlin-1) Gene
Chromatin Reader and Transcriptional Regulator
Gene Information Card
| Symbol | SPIN1 |
|---|---|
| Full Name | spindlin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.1 |
| NCBI Gene ID | 10927 ncbi.nlm.nih.gov/gene/10927 |
| Ensembl ID | ENSG00000106868 |
| UniProt ID | Q9Y657 |
| OMIM ID | 609936 |
| HGNC ID | 11243 |
| Aliases | SPIN, TDRD24, FLJ12443 |
Description
SPIN1 encodes spindlin-1, a member of the SPIN/STSY family of proteins. It functions as a chromatin reader that specifically recognizes trimethylated histone H3 lysine 4 (H3K4me3) and plays a role in transcriptional activation, cell cycle regulation, and ribosomal RNA transcription. SPIN1 is implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression promotes cell proliferation and migration via transcriptional activation of oncogenes. | PMID: 25944712 |
| Ovarian Cancer | Amplification and overexpression correlate with poor prognosis; drives tumor growth. | PMID: 25944712 |
| Hepatocellular Carcinoma | Upregulation enhances cell cycle progression and metastasis. | PMID: 25944712 |
| Colorectal Cancer | High expression associated with advanced stage and reduced survival. | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lymph Node | 6.1 | Low |
| Ovary | 5.8 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 12.8 | Breast cancer cell line |
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| A549 | 9.1 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.1% | Unknown functional impact |
| c.487G>A (p.Gly163Ser) | Missense | <0.1% | Unknown functional impact |
| c.622C>T (p.Arg208Cys) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SPIN1.
Gain of Function (GOF)
Overexpression and gene amplification are common in cancers, suggesting oncogenic gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization
• Transcriptional regulation by H3K4me3
• rRNA transcription
Protein Summary
Spindlin-1 is a 262-amino acid protein containing a Tudor-like domain that binds H3K4me3. It localizes to the nucleus and is involved in chromatin remodeling, transcriptional activation, and ribosome biogenesis. Overexpression in multiple cancers suggests an oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIN1 Knockout HEK293 Cell Line | EDJ-KQ7215 | Human | 10927 | Details Get a Quote |
| SPIN1 Knockout A-549 Cell Line | EDJ-KQ32167 | Human | 10927 | Details Get a Quote |
| SPIN1 Knockout HCT 116 Cell Line | EDJ-KQ32168 | Human | 10927 | Details Get a Quote |
| SPIN1 Knockout HeLa Cell Line | EDJ-KQ32169 | Human | 10927 | Details Get a Quote |
