Gene
rlbp1a
- ID
- ZDB-GENE-040426-1662
- Name
- retinaldehyde binding protein 1a
- Symbol
- rlbp1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylinositol bisphosphate binding activity. Acts upstream of or within optokinetic behavior and photoreceptor cell maintenance. Is expressed in brain; optic vesicle; and visual system. Used to study Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; fundus albipunctatus; and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; fundus albipunctatus; night blindness; and retinitis pigmentosa. Orthologous to human RLBP1 (retinaldehyde binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73076 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la025799Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la025800Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa20873 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zh8 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-rlbp1a | Schlegel et al., 2021 | |
| MO1-rlbp1a | N/A | Fleisch et al., 2008 |
| MO2-rlbp1a | N/A | Collery et al., 2008 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bothnia retinal dystrophy | Alliance | Bothnia retinal dystrophy | 607475 |
| fundus albipunctatus | Alliance | Fundus albipunctatus | 136880 |
| fundus albipunctatus | Alliance | Retinitis punctata albescens | 136880 |
| Newfoundland cone-rod dystrophy | Alliance | Newfoundland rod-cone dystrophy | 607476 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CRAL-TRIO lipid binding domain | CRAL-TRIO lipid binding domain superfamily | CRAL/TRIO, N-terminal domain | CRAL/TRIO, N-terminal domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:Q6PC74 | InterPro | 312 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rlbp1a-201
(1)
|
Ensembl | 1,084 nt | ||
| mRNA |
rlbp1a-202
(1)
|
Ensembl | 1,459 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 | DKEY-281A24 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:73076 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200705 (1) | 1478 nt | ||
| Genomic | GenBank:BX571799 (1) | 159106 nt | ||
| Polypeptide | UniProtKB:Q6PC74 (1) | 312 aa |
- Chen, D.D., Liu, B., Wang, Y., Jiang, M., Shang, G., Xue, M., Jia, X., Lang, Y., Zhou, G., Zhang, F., Peng, X., Hu, Y. (2023) The downregulation of HSP90-controlled CRALBP expression is associated with age-related vision attenuation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 37:e22832e22832
- Ulhaq, Z.S., Okamoto, K., Ogino, Y., Fai Tse, W.K. (2023) Dysregulation of spliceosomes complex induces retinitis pigmentosa-like characteristics in sf3b4-depleted zebrafish. The American journal of pathology. 193(9):1223-1233
- Jin, M., Zhang, H., Xu, B., Li, Y., Qin, H., Yu, S., He, J. (2022) Jag2b-Notch3/1b-mediated neuron-to-glia crosstalk controls retinal gliogenesis. EMBO reports. 23(10):e54922
- Schlegel, D.K., Ramkumar, S., von Lintig, J., Neuhauss, S.C. (2021) Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina. eLIFE. 10:
- Hoang, T., Wang, J., Boyd, P., Wang, F., Santiago, C., Jiang, L., Yoo, S., Lahne, M., Todd, L.J., Jia, M., Saez, C., Keuthan, C., Palazzo, I., Squires, N., Campbell, W.A., Rajaii, F., Parayil, T., Trinh, V., Kim, D.W., Wang, G., Campbell, L.J., Ash, J., Fischer, A.J., Hyde, D.R., Qian, J., Blackshaw, S. (2020) Gene regulatory networks controlling vertebrate retinal regeneration. Science (New York, N.Y.). 370(6519):
- Raj, B., Farrell, J.A., Liu, J., El Kholtei, J., Carte, A.N., Navajas Acedo, J., Du, L.Y., McKenna, A., Relić, Đ., Leslie, J.M., Schier, A.F. (2020) Emergence of Neuronal Diversity during Vertebrate Brain Development. Neuron. 108(6):1058-1074.e6
- Xu, B., Tang, X., Jin, M., Zhang, H., Du, L., Yu, S., He, J. (2020) Unifying Developmental Programs for Embryonic and Post-Embryonic Neurogenesis in the Zebrafish Retina. Development (Cambridge, England). 147(12):
- Ranski, A.H., Kramer, A.C., Morgan, G.W., Perez, J.L., Thummel, R. (2018) Characterization of retinal regeneration in adult zebrafish following multiple rounds of phototoxic lesion. PeerJ. 6:e5646
- Tzima, E., Serifi, I., Tsikari, I., Alzualde, A., Leonardos, I., Papamarcaki, T. (2017) Transcriptional and Behavioral Responses of Zebrafish Larvae to Microcystin-LR Exposure. International Journal of Molecular Sciences. 18(2)
- 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
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