Gene
pfn1
- ID
- ZDB-GENE-031002-33
- Name
- profilin 1
- Symbol
- pfn1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity. Involved in convergent extension involved in gastrulation and epiboly involved in gastrulation with mouth forming second. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 18. Is expressed in several structures, including EVL; blood vessel; hatching gland; periderm; and pharynx. Orthologous to human PFN1 (profilin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb813 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Lai et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 18 | Alliance | Amyotrophic lateral sclerosis 18 | 614808 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Profilin | Profilin1/2/3, vertebrate | Profilin, eukaryotic type | Profilin superfamily |
|---|---|---|---|---|---|
|
UniProtKB:E7F0A1
|
141 |
Interactions and Pathways
No data available
Plasmids
No data available