Gene
kiaa0319
- ID
- ZDB-GENE-100922-40
- Name
- KIAA0319
- Symbol
- kiaa0319 Nomenclature History
- Previous Names
-
- sb:eu253
- si:ch73-215d9.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be involved in neuron migration. Predicted to be located in membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane. Is expressed in several structures, including axis; nervous system; notochord; otic vesicle; and trunk. Orthologous to human KIAA0319 (KIAA0319).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu253 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa14911 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16403 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18427 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa30691 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31007 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42778 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42779 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Dyslexia-associated protein KIAA0319-like | Immunoglobulin-like fold | KIAA0319-like, C-terminal domain | MANSC domain | PKD/Chitinase domain | PKD domain superfamily | Seven cysteines, N-terminal |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9NZT3 | InterPro | 692 | |||||||
| UniProtKB:A0A8M9PK74 | InterPro | 1008 | |||||||
| UniProtKB:A0A8M2B581 | InterPro | 1041 | |||||||
| UniProtKB:A0A0R4IQX4 | InterPro | 1037 | |||||||
| UniProtKB:A0A8M9Q5M1 | InterPro | 809 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kiaa0319-202
(1)
|
Ensembl | 3,426 nt | ||
| mRNA |
kiaa0319-203
(1)
|
Ensembl | 3,327 nt | ||
| mRNA |
si:ch73-215d9.1-201
(1)
|
Ensembl | 3,412 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 | CH73-215D9 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-128C13 | ZFIN Curated Data | |
| Encodes | EST | eu253 | Thisse et al., 2005 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068214200 (1) | 3884 nt | ||
| Genomic | GenBank:CT485618 (1) | 224177 nt | ||
| Polypeptide | UniProtKB:A0A8M2B581 (1) | 1041 aa |
- Anticevic, I., Otten, C., Popovic, M. (2024) Tyrosyl-DNA phosphodiesterase 2 (Tdp2) repairs DNA-protein crosslinks and protects against double strand breaks in vivo. Frontiers in cell and developmental biology. 12:13945311394531
- Gostic, M., Martinelli, A., Tucker, C., Yang, Z., Gasparoli, F., Ewart, J.Y., Dholakia, K., Sillar, K.T., Tello, J.A., Paracchini, S. (2019) The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration. The Journal of comparative neurology. 527(16):2634-2643
- 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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