Gene
slc7a14a
- ID
- ZDB-GENE-070912-112
- Name
- solute carrier family 7 member 14a
- Symbol
- slc7a14a Nomenclature History
- Previous Names
-
- si:ch211-152d1.2
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable amino acid transmembrane transporter activity. Acts upstream of or within eye development. Predicted to be located in lysosomal membrane. Predicted to be active in plasma membrane. Is expressed in brain; retina; retinal cone cell; and spinal cord. Human ortholog(s) of this gene implicated in retinitis pigmentosa 68. Orthologous to human SLC7A14 (solute carrier family 7 member 14).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhuang et al., 2019
- 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 |
|---|---|---|---|---|---|
| ihb282 | Allele with one deletion | Exon 4 | Unknown | CRISPR | |
| ihb283 | Allele with one deletion | Exon 4 | Unknown | CRISPR | |
| sa14391 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39839 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44532 | Allele with one point mutation | Unknown | Unknown | ENU |
1 - 5 of 5
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-slc7a14a | (2) | |
| CRISPR2-slc7a14a | Zebrafish Nomenclature Committee | |
| MO1-slc7a14a | N/A | (2) |
1 - 3 of 3
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 68 | Alliance | Retinitis pigmentosa 68 | 615725 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Amino acid/polyamine transporter I | Cationic amino acid transporter, C-terminal |
|---|---|---|---|---|
| UniProtKB:B0UYF2 | InterPro | 785 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc7a14a-201
(1)
|
Ensembl | 5,140 nt | ||
| mRNA |
slc7a14a-202
(1)
|
Ensembl | 458 nt | ||
| mRNA |
slc7a14a-203
(1)
|
Ensembl | 2,827 nt | ||
| mRNA |
slc7a14a-204
(1)
|
Ensembl | 3,085 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-152D1 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-153N9 | ZFIN Curated Data |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001347689 (1) | |||
| Genomic | GenBank:CR392026 | 191490 nt | ||
| Polypeptide | UniProtKB:B0UYF2 (1) | 785 aa |
- Zhuang, Y.Y., Xiang, L., Wen, X.R., Shen, R.J., Zhao, N., Zheng, S.S., Han, R.Y., Qu, J., Lu, F., Jin, Z.B. (2019) Slc7a14 Is Indispensable in Zebrafish Retinas. Frontiers in cell and developmental biology. 7:333
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Jin, Z.B., Huang, X.F., Lv, J.N., Xiang, L., Li, D.Q., Chen, J., Huang, C., Wu, J., Lu, F., Qu, J. (2014) SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nature communications. 5:3517
1 - 5 of 5
Show