Gene
tulp1b
- ID
- ZDB-GENE-110411-113
- Name
- TUB like protein 1b
- Symbol
- tulp1b Nomenclature History
- Previous Names
-
- si:ch211-233f11.2
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including camera-type eye photoreceptor cell development; regulation of cilium assembly; and regulation of ferroptosis. Is expressed in epiphysis; head; and retina. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 15; retinitis pigmentosa; and retinitis pigmentosa 14. Orthologous to human TULP1 (TUB like protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Jia et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 15 | Alliance | Leber congenital amaurosis 15 | 613843 |
| retinitis pigmentosa 14 | Alliance | Retinitis pigmentosa 14 | 600132 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Tubby, C-terminal | Tubby-like, C-terminal |
|---|---|---|---|
|
UniProtKB:A0A8M9PNC0
|
316 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tulp1b-201
(1)
|
Ensembl | 2,012 nt | ||
| mRNA |
tulp1b-202
(1)
|
Ensembl | 1,350 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 | CH211-233F11 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-38E6 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021477312 (1) | 1025 nt | ||
| Genomic | GenBank:CR847944 (1) | 177870 nt | ||
| Polypeptide | UniProtKB:A0A8M9PNC0 (1) | 316 aa |
- Jia, D., Gao, P., Lv, Y., Huang, Y., Reilly, J., Sun, K., Han, Y., Hu, H., Chen, X., Zhang, Z., Li, P., Luo, J., Shu, X., Tang, Z., Liu, F., Liu, M., Ren, X. (2022) Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish. Cell Death & Disease. 13:962
- Lin, S.J., Vona, B., Barbalho, P.G., Kaiyrzhanov, R., Maroofian, R., Petree, C., Severino, M., Stanley, V., Varshney, P., Bahena, P., Alzahrani, F., Alhashem, A., Pagnamenta, A.T., Aubertin, G., Estrada-Veras, J.I., Hernández, H.A.D., Mazaheri, N., Oza, A., Thies, J., Renaud, D.L., Dugad, S., McEvoy, J., Sultan, T., Pais, L.S., Tabarki, B., Villalobos-Ramirez, D., Rad, A., Genomics England Research Consortium, Galehdari, H., Ashrafzadeh, F., Sahebzamani, A., Saeidi, K., Torti, E., Elloumi, H.Z., Mora, S., Palculict, T.B., Yang, H., Wren, J.D., Ben Fowler, ., Joshi, M., Behra, M., Burgess, S.M., Nath, S.K., Hanna, M.G., Kenna, M., Merritt, J.L., Houlden, H., Karimiani, E.G., Zaki, M.S., Haaf, T., Alkuraya, F.S., Gleeson, J.G., Varshney, G.K. (2021) Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genetics in medicine : official journal of the American College of Medical Genetics. 23(10):1933-1943
- Sun, C., Galicia, C., Stenkamp, D.L. (2018) Transcripts within rod photoreceptors of the Zebrafish retina. BMC Genomics. 19:127
- 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
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