ZFIN is now using GRCz12tu for Genomic Data
Gene
skib
- ID
- ZDB-GENE-990715-10
- Name
- SKI proto-oncogene b
- Symbol
- skib Nomenclature History
- Previous Names
-
- skiB
- fc17g02
- wu:fc17g02 (1)
- wu:fk79g04
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and SMAD binding activity. Acts upstream of or within cartilage development; dorsal/ventral pattern formation; and heart looping. Located in nucleus. Is expressed in central nervous system and telencephalon. Used to study craniosynostosis. Human ortholog(s) of this gene implicated in Marfan syndrome. Orthologous to human SKI (SKI proto-oncogene).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniosynostosis | Alliance | Shprintzen-Goldberg syndrome | 182212 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| craniosynostosis | WT + MO1-skib | standard conditions | Doyle et al., 2012 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003380 | SKI/SNO/DAC domain |
| Domain | IPR014890 | c-SKI SMAD4-binding domain |
| Domain | IPR047315 | Ski oncogene-like, Dachshund-homology domain |
| Family | IPR023216 | Transcription regulator SKI/SnoN |
| Homologous_superfamily | IPR009061 | Putative DNA-binding domain superfamily |
| Homologous_superfamily | IPR010919 | SAND-like domain superfamily |
| Homologous_superfamily | IPR037000 | Ski-like, DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | c-SKI SMAD4-binding domain | Putative DNA-binding domain superfamily | SAND-like domain superfamily | Ski-like, DNA-binding domain superfamily | Ski oncogene-like, Dachshund-homology domain | SKI/SNO/DAC domain | Transcription regulator SKI/SnoN |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q9YI02 | InterPro | 695 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers