Gene
tgfb1a
- ID
- ZDB-GENE-030618-1
- Name
- transforming growth factor, beta 1a
- Symbol
- tgfb1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have cytokine activity; type II transforming growth factor beta receptor binding activity; and type III transforming growth factor beta receptor binding activity. Involved in hematopoietic stem cell differentiation; otolith development; and posterior lateral line development. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; aphthous stomatitis; artery disease (multiple); bone disease (multiple); and lung disease (multiple). Is expressed in several structures, including cardiovascular system; digestive system; epidermis; fin; and sensory system. Orthologous to human TGFB1 (transforming growth factor beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 65 figures from 51 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu837 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Camurati-Engelmann disease | Alliance | Camurati-Engelmann disease | 131300 |
| cystic fibrosis | Alliance | {Cystic fibrosis lung disease, modifier of} | 219700 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 618213 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017948 | Transforming growth factor beta, conserved site |
| Domain | IPR001111 | TGF-beta, propeptide |
| Domain | IPR001839 | Transforming growth factor-beta, C-terminal |
| Family | IPR003939 | Transforming growth factor beta-1 proprotein |
| Family | IPR015615 | Transforming growth factor-beta-related |
| Family | IPR016319 | Transforming growth factor-beta |
| Homologous_superfamily | IPR029034 | Cystine-knot cytokine |
Domain Details Per Protein
| Protein | Length | Cystine-knot cytokine | TGF-beta, propeptide | Transforming growth factor-beta | Transforming growth factor beta-1 proprotein | Transforming growth factor beta, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZZU7
|
377 |
- Genome Browsers
Interactions and Pathways
Plasmids
No data available