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 enable actin binding activity. Acts upstream of or within convergent extension involved in gastrulation and epiboly involved in gastrulation with mouth forming second. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. Is expressed in several structures, including blood; cardiovascular system; pectoral fin; pharynx; and trunk. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 18. 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