Gene
fermt3a
- ID
- ZDB-GENE-081031-46
- Name
- FERM domain containing kindlin 3a
- Symbol
- fermt3a Nomenclature History
- Previous Names
-
- im:7154036
- si:ch211-223p9.3
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable integrin binding activity. Predicted to be involved in several processes, including integrin activation; platelet aggregation; and regulation of cell-cell adhesion mediated by integrin. Predicted to act upstream of or within cell adhesion and integrin-mediated signaling pathway. Predicted to be active in cell-substrate junction. Is expressed in macrophage and thymus. Human ortholog(s) of this gene implicated in leukocyte adhesion deficiency 1 and leukocyte adhesion deficiency 3. Orthologous to human FERMT3 (FERM domain containing kindlin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7154036 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa11472 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31488 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31489 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa33766 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40594 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45237 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| leukocyte adhesion deficiency 3 | Alliance | Leukocyte adhesion deficiency, type III | 612840 |
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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 | Kindlin/fermitin, PH domain | PH-like domain superfamily | Pleckstrin homology domain |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q9W5 | InterPro | 641 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
fermt3 (1 of many)-201
(1)
|
Ensembl | 1,050 nt | ||
| mRNA |
fermt3a-201
(1)
|
Ensembl | 1,926 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-223P9 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7154036 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021476681 (1) | 2931 nt | ||
| Genomic | GenBank:CU012044 (1) | 191978 nt | ||
| Polypeptide | UniProtKB:A0A8M9Q9W5 (1) | 641 aa |
- Comparative Orthology
- Alliance
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
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