Gene
rp1l1a
- ID
- ZDB-GENE-120711-1
- Name
- rp1 like 1a
- Symbol
- rp1l1a Nomenclature History
- Previous Names
-
- rp1l1
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within convergent extension; nervous system development; and retina development in camera-type eye. Predicted to be located in cell projection and cytoplasm. Predicted to be active in axoneme and photoreceptor connecting cilium. Used to study eye disease. Human ortholog(s) of this gene implicated in occult macular dystrophy and retinitis pigmentosa 88. Orthologous to human RP1L1 (RP1 like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
---|---|---|---|---|---|
sa22985 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36294 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36295 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa39138 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa39139 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa42856 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
ua5017 | Allele with one deletion | Unknown | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-rp1l1a | Liu et al., 2017 | |
CRISPR2-rp1l1a | Noel et al., 2020 | |
MO1-rp1l1a | N/A | (2) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
occult macular dystrophy | Alliance | Occult macular dystrophy | 613587 |
retinitis pigmentosa 88 | Alliance | Retinitis pigmentosa 88 | 618826 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
eye disease | rp1l1aua5017/ua5017 (AB) | standard conditions | Noel et al., 2020 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Doublecortin domain | Doublecortin domain superfamily |
---|---|---|---|---|
UniProtKB:A0A8M2BH38 | InterPro | 2394 | ||
UniProtKB:A0A8M9Q226 | InterPro | 235 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
rp1l1a-201
(1)
|
Ensembl | 7,925 nt | ||
mRNA |
rp1l1a-202
(1)
|
Ensembl | 600 nt | ||
mRNA |
rp1l1a-203
(1)
|
Ensembl | 2,715 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 | CH73-340M8 | ZFIN Curated Data | |
Contained in | BAC | DKEY-100N19 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_009292786 (1) | 7990 nt | ||
Genomic | GenBank:CR933000 (1) | 167637 nt | ||
Polypeptide | UniProtKB:A0A8M2BH38 (1) | 2394 aa |
- Noel, N.C.L., Nadolski, N.J., Hocking, J.C., MacDonald, I.M., Allison, W.T. (2020) Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish. Cells. 9(10):
- Liu, Y.P., Bosch, D.G., Siemiatkowska, A.M., Rendtorff, N.D., Boonstra, F.N., Möller, C., Tranebjærg, L., Katsanis, N., Cremers, F.P. (2017) Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. Ophthalmic genetics. 38(2):127-132
- 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
- Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian Genomics, Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A., Lupski, J.R. (2015) Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12(7):1169-83
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