Gene
fermt1
- ID
- ZDB-GENE-030131-3264
- Name
- FERM domain containing kindlin 1
- Symbol
- fermt1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to be involved in integrin-mediated signaling pathway. Human ortholog(s) of this gene implicated in Kindler syndrome; telangiectasis; and vesiculobullous skin disease. Is expressed in several structures, including intestinal epithelium; median fin fold; non neural ectoderm; pectoral fin bud; and pectoral fin fold. Orthologous to human FERMT1 (fermitin family member 1).
- 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
- All Phenotype Data
- 2 figures from Postel et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Kindler syndrome | Alliance | Kindler syndrome | 173650 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR019748 | FERM central domain |
Domain | IPR019749 | Band 4.1 domain |
Domain | IPR040790 | Kindlin-2, N-terminal |
Family | IPR037843 | Kindlin/fermitin |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR035963 | FERM superfamily, second domain |
Domain Details Per Protein
Protein | Length | Band 4.1 domain | FERM central domain | FERM superfamily, second domain | Kindlin-2, N-terminal | Kindlin/fermitin | PH-like domain superfamily | Pleckstrin homology domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:E9QBZ4
|
661 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
fermt1-201
(1)
|
Ensembl | 1,986 nt | ||
mRNA |
fermt1-203
(1)
|
Ensembl | 415 nt | ||
mRNA |
fermt1-204
(1)
|
Ensembl | 2,566 nt | ||
ncRNA |
fermt1-002
(1)
|
Ensembl | 859 nt |
Interactions and Pathways
No data available
Plasmids
No data available