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 enable integrin binding activity. Predicted to be involved in cell-matrix adhesion. Predicted to act upstream of or within integrin-mediated signaling pathway. Predicted to be active in focal adhesion. Is expressed in several structures, including intestinal epithelium; median fin fold; non neural ectoderm; pectoral fin bud; and pectoral fin fold. Human ortholog(s) of this gene implicated in Kindler syndrome; telangiectasis; and vesiculobullous skin disease. Orthologous to human FERMT1 (FERM domain containing kindlin 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu8654 | Allele with one point mutation | Exon 13 | Premature Stop | ENU | |
| sa11922 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23801 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37147 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 4 of 4
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-fermt1 | N/A | Postel et al., 2013 |
| MO2-fermt1 | N/A | Postel et al., 2013 |
1 - 2 of 2
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Kindler syndrome | Alliance | Kindler syndrome | 173650 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 661 |
1 - 1 of 1
| 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 |
1 - 4 of 4
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-22C10 | ZFIN Curated Data | |
| Encodes | EST | fc32b07 |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068215699 (1) | 3541 nt | ||
| Genomic | GenBank:AL929237 (1) | 164494 nt | ||
| Polypeptide | UniProtKB:E9QBZ4 (1) | 661 aa |
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Fitzpatrick, P., Shattil, S.J., Ablooglu, A.J. (2014) C-terminal COOH of Integrin beta1 Is Necessary for beta1 Association with the Kindlin-2 Adapter Protein. The Journal of biological chemistry. 289:11183-93
- Postel, R., Margadant, C., Fischer, B., Kreft, M., Janssen, H., Secades, P., Zambruno, G., and Sonnenberg, A. (2013) Kindlin-1 mutant zebrafish as an in vivo model sytem to study adhesion mechanisms in the epidermis. The Journal of investigative dermatology. 133(9):2180-90
- Veerkamp, J., Rudolph, F., Cseresnyes, Z., Priller, F., Otten, C., Renz, M., Schaefer, L., and Abdelilah-Seyfried, S. (2013) Unilateral dampening of bmp activity by nodal generates cardiac left-right asymmetry. Developmental Cell. 24(6):660-667
1 - 5 of 5
Show