Gene
cdhr1a
- ID
- ZDB-GENE-040924-4
- Name
- cadherin-related family member 1a
- Symbol
- cdhr1a Nomenclature History
- Previous Names
-
- cdhr1
- pcdh21
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within glial cell development and retina development in camera-type eye. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in cone-rod dystrophy 15. Orthologous to human CDHR1 (cadherin related family member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Piedade et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1445 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9583 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9596 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15425 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35512 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35513 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cone-rod dystrophy 15 | Alliance | Cone-rod dystrophy 15 | 613660 |
| cone-rod dystrophy 15 | Alliance | Macular dystrophy, retinal | 613660 |
| cone-rod dystrophy 15 | Alliance | Retinitis pigmentosa 65 | 613660 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cadherin | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PXT0
|
749 | ||||
|
UniProtKB:Q6B3P0
|
857 | ||||
|
UniProtKB:G1K2I7
|
855 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cdhr1a-201
(1)
|
Ensembl | 4,844 nt | ||
| mRNA |
cdhr1a-202
(1)
|
Ensembl | 3,862 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cdhr1a | polyclonal | IgG | Rabbit |
|
Boster Biological
|
2 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-232K3 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001005402 (1) | 3812 nt | ||
| Genomic | GenBank:BX855592 (1) | 159646 nt | ||
| Polypeptide | UniProtKB:Q6B3P0 (1) | 857 aa |
- Piedade, W.P., Titialii-Torres, K., Morris, A.C., Famulski, J.K. (2020) Proteasome-Mediated Regulation of Cdhr1a by Siah1 Modulates Photoreceptor Development and Survival in Zebrafish. Frontiers in cell and developmental biology. 8:594290
- Charlton-Perkins, M., Almeida, A.D., MacDonald, R.B., Harris, W.A. (2019) Genetic control of cellular morphogenesis in Müller glia. Glia. 67(7):1401-1411
- 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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