SKIDA1: SKI/DACH Domain-Containing Protein 1
Transcriptional regulator involved in development and cancer
Gene Information Card
| Symbol | SKIDA1 |
|---|---|
| Full Name | SKI/DACH domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000138193 |
| UniProt ID | Q6P1J6 |
| OMIM ID | 614958 |
| HGNC ID | 20243 |
| Aliases | DACH2, DACH2L, SKIDA1 |
Description
SKIDA1 encodes a protein containing both SKI and DACH domains, suggesting a role in transcriptional regulation. It is involved in developmental processes and has been implicated in various cancers. The protein may function as a co-repressor or co-activator in signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect cell proliferation and migration | COSMIC, ClinVar |
| Colorectal cancer | Mutations and expression changes observed in tumor samples | COSMIC |
| Lung cancer | Overexpression linked to poor prognosis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.3 | Moderate expression |
| A549 (lung cancer) | 6.8 | Moderate expression |
| HCT116 (colorectal cancer) | 5.9 | Low expression |
| HEK293 (embryonic kidney) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% | Unknown functional impact |
| c.1456G>A (p.Gly486Ser) | Missense | <0.1% | Reported in COSMIC |
| c.1891_1892insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Not assigned to any specific curated pathway in Reactome or KEGG.
Protein Summary
The SKIDA1 protein is 748 amino acids long and contains an N-terminal SKI domain and a C-terminal DACH domain. It localizes to the nucleus and is thought to regulate transcription by interacting with other co-factors. Expression is highest in testis and brain, with lower levels in other tissues. Its role in cancer is under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SKIDA1 Knockout HEK293 Cell Line | EDJ-KQ2152 | Human | 387640 | Details Get a Quote |
| SKIDA1 Knockout A-549 Cell Line | EDJ-KQ22342 | Human | 387640 | Details Get a Quote |
| SKIDA1 Knockout HeLa Cell Line | EDJ-KQ22343 | Human | 387640 | Details Get a Quote |
| SKIDA1 Knockout HCT 116 Cell Line | EDJ-KQ76819 | Human | 387640 | Details Get a Quote |
