Gene
slc24a5
- ID
- ZDB-GENE-031210-1
- Name
- solute carrier family 24 member 5
- Symbol
- slc24a5 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable calcium channel activity and calcium, potassium:sodium antiporter activity. Acts upstream of or within eye pigmentation; melanocyte differentiation; and melanocyte migration. Predicted to be located in Golgi apparatus; melanosome; and membrane. Predicted to be active in trans-Golgi network. Is expressed in female organism; gill; male organism; melanocyte; and presumptive retinal pigmented epithelium. Human ortholog(s) of this gene implicated in oculocutaneous albinism type VI. Orthologous to human SLC24A5 (solute carrier family 24 member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 20 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b1 | Allele with one point mutation | Unknown | Premature Stop | spontaneous | |
| b6 | unknown | Unknown | Unknown | not specified | |
| j130 | Allele with one deletion | Exon 6 | Unknown | spontaneous | |
| m592 | unknown | Unknown | Unknown | ENU | |
| slc24a5_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| t14m | unknown | Unknown | Unknown | ENU | |
| tg271 | unknown | Unknown | Unknown | not specified | |
| ty213 | unknown | Unknown | Unknown | ENU | |
| zf450 | Allele with one delins | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| oculocutaneous albinism type VI | Alliance | Albinism, oculocutaneous, type VI | 113750 |
| oculocutaneous albinism type VI | Alliance | [Skin/hair/eye pigmentation 4, fair/dark skin] | 113750 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NCX, central ion-binding domain superfamily | Sodium/calcium exchanger membrane region | Sodium/potassium/calcium exchanger |
|---|---|---|---|---|
|
UniProtKB:Q49SH1
|
513 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc24a5-201
(1)
|
Ensembl | 2,003 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-436O12 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001030280 (1) | 2003 nt | ||
| Genomic | GenBank:AY581204 (1) | 78109 nt | ||
| Polypeptide | UniProtKB:Q49SH1 (1) | 513 aa |
- Sone, R., Fujimaki, S., Kawahara, A. (2024) Efficient detection of single nucleotide variants in targeted genomic loci. Development, growth & differentiation. 66(2):172-177
- Boudehen, Y.M., Tasrini, Y., Aguilera-Correa, J.J., Alcaraz, M., Kremer, L. (2023) Silencing essential gene expression in Mycobacterium abscessus during infection. Microbiology spectrum. 11(6):e0283623
- Hadzhiev, Y., Wheatley, L., Cooper, L., Ansaloni, F., Whalley, C., Chen, Z., Finaurini, S., Gustincich, S., Sanges, R., Burgess, S., Beggs, A., Müller, F. (2023) The miR-430 locus with extreme promoter density forms a transcription body during the minor wave of zygotic genome activation. Developmental Cell. 58:155170.e8155-170.e8
- Banu, S., Gaur, N., Nair, S., Ravikrishnan, T., Khan, S., Mani, S., Bharathi, S., Mandal, K., Kuram, N.A., Vuppaladadium, S., Ravi, R., Murthy, C.L.N., Quoseena, M., Babu, N.S., Idris, M.M. (2022) Transcriptomic and proteomic analysis of epimorphic regeneration in zebrafish caudal fin tissue. Genomics. 114(2):110300
- Clifford, A.M., Tresguerres, M., Goss, G.G., Wood, C.M. (2022) A novel K+ -dependent Na+ uptake mechanism during low pH exposure in adult zebrafish (Danio rerio): New tricks for old dogma. Acta physiologica (Oxford, England). 234(3):e13777
- Dam, S., Tangara, S., Hamela, C., Hattabi, T., Faïon, L., Carre, P., Antoine, R., Herledan, A., Leroux, F., Piveteau, C., Eveque, M., Flipo, M., Deprez, B., Kremer, L., Willand, N., Villemagne, B., Hartkoorn, R.C. (2022) Tricyclic SpiroLactams Kill Mycobacteria In Vitro and In Vivo by Inhibiting Type II NADH Dehydrogenases. Journal of medicinal chemistry. 65(24):16651-16664
- Lagune, M., Le Moigne, V., Johansen, M.D., Vásquez Sotomayor, F., Daher, W., Petit, C., Cosentino, G., Paulowski, L., Gutsmann, T., Wilmanns, M., Maurer, F.P., Herrmann, J.L., Girard-Misguich, F., Kremer, L. (2022) The ESX-4 substrates, EsxU and EsxT, modulate Mycobacterium abscessus fitness. PLoS pathogens. 18:e1010771
- Vicencio, J., Sánchez-Bolaños, C., Moreno-Sánchez, I., Brena, D., Vejnar, C.E., Kukhtar, D., Ruiz-López, M., Cots-Ponjoan, M., Rubio, A., Melero, N.R., Crespo-Cuadrado, J., Carolis, C., Pérez-Pulido, A.J., Giráldez, A.J., Kleinstiver, B.P., Cerón, J., Moreno-Mateos, M.A. (2022) Genome editing in animals with minimal PAM CRISPR-Cas9 enzymes. Nature communications. 13:2601
- Avagyan, S., Henninger, J.E., Mannherz, W.P., Mistry, M., Yoon, J., Yang, S., Weber, M.C., Moore, J.L., Zon, L.I. (2021) Resistance to inflammation underlies enhanced fitness in clonal hematopoiesis. Science (New York, N.Y.). 374:768-772
- Hathazi, D., Cox, D., D'Amico, A., Tasca, G., Charlton, R., Carlier, R.Y., Baumann, J., Kollipara, L., Zahedi, R.P., Feldmann, I., Deleuze, J.F., Torella, A., Cohn, R., Robinson, E., Ricci, F., Jungbluth, H., Fattori, F., Boland, A., O'Connor, E., Horvath, R., Barresi, R., Lochmüller, H., Urtizberea, A., Jacquemont, M.L., Nelson, I., Swan, L., Bonne, G., Roos, A. (2021) INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain : a journal of neurology. 144(8):2427-2442
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