Gene
kdf1a
- ID
- ZDB-GENE-110411-156
- Name
- keratinocyte differentiation factor 1a
- Symbol
- kdf1a Nomenclature History
- Previous Names
-
- kdf1
- si:ch73-112l20.2
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be involved in regulation of epidermal cell division. Predicted to act upstream of or within keratinocyte development. Predicted to be active in cell junction. Human ortholog(s) of this gene implicated in ectodermal dysplasia 12. Orthologous to human KDF1 (keratinocyte differentiation factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1466 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14538 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17416 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36278 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36279 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44864 | Allele with one point mutation | Unknown | Unknown | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ectodermal dysplasia 12 | Alliance | ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 617337 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR028003 | Keratinocyte differentiation factor 1 |
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Domain Details Per Protein
| Protein | Length | Keratinocyte differentiation factor 1 |
|---|---|---|
|
UniProtKB:E7F2A2
|
383 |
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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 | CH73-112L20 | ZFIN Curated Data | |
| Contained in | BAC | CH73-143G24 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-112H4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001338342 (1) | 2330 nt | ||
| Genomic | GenBank:CU104704 (1) | 45100 nt | ||
| Polypeptide | UniProtKB:E7F2A2 (1) | 383 aa |
- Comparative Orthology
- Alliance
- 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
- Melvin, V.S., Feng, W., Hernandez-Lagunas, L., Artinger, K.B., and Williams, T. (2013) A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(7):817-31
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