Gene
greb1l
- ID
- ZDB-GENE-030131-4022
- Name
- GREB1 like retinoic acid receptor coactivator
- Symbol
- greb1l Nomenclature History
- Previous Names
-
- fc65f09
- si:dkey-203o21.1
- si:dkey-264l15.1
- wu:fc55e03
- wu:fc65f09 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Involved in kidney development. Acts upstream of or within pronephros development. Predicted to be located in membrane. Is expressed in central nervous system and mesoderm. Used to study renal agenesis. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. Orthologous to human GREB1L (GREB1 like retinoic acid receptor coactivator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- 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 |
|---|---|---|---|---|---|
| rdu1000 | Allele with one deletion | Exon 8 | Unknown | CRISPR | |
| sa1260 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa1657 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5124 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14368 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16374 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16854 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17608 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19691 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25771 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-greb1l | Brophy et al., 2017 | |
| CRISPR2-greb1l | Sanna-Cherchi et al., 2017 | |
| CRISPR3-greb1l | Sanna-Cherchi et al., 2017 | |
| MO1-greb1l | N/A | Brophy et al., 2017 |
| MO2-greb1l | N/A | Sanna-Cherchi et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 80 | Alliance | Deafness, autosomal dominant 80 | 619274 |
| Renal hypodysplasia/aplasia 3 | 617805 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| renal agenesis | greb1lrdu1000/rdu1000 | standard conditions | Sanna-Cherchi et al., 2017 |
| renal agenesis | EKW + MO2-greb1l | standard conditions | Sanna-Cherchi et al., 2017 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | GREB1 | GREB1-like, circularly permuted SF2 helicase domain | GREB1-like, C-terminal domain | GREB1-like, second domain | GREB1, N-terminal domain | TET-Associated Glycosyltransferase |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:B8JKP6 | InterPro | 1942 | ||||||
| UniProtKB:A0A8M9NZP6 | InterPro | 1942 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
greb1l-201
(1)
|
Ensembl | 8,900 nt | ||
| mRNA |
greb1l-203
(1)
|
Ensembl | 9,009 nt | ||
| ncRNA |
greb1l-002
(1)
|
Ensembl | 851 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 | CH73-337F15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-203O21 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-264L15 | ZFIN Curated Data | |
| Encodes | EST | fc55e03 | ||
| Encodes | EST | fc65f09 | ||
| Encodes | EST | wz13009 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001362307 (1) | 9069 nt | ||
| Genomic | GenBank:CT573467 (2) | 102014 nt | ||
| Polypeptide | UniProtKB:A0A8M9NZP6 (1) | 1942 aa |
- Comparative Orthology
- Alliance
- Gene Tree
- Ensembl
- Note
- Woods, et al. (2005. Genome Res. 15:1307-1314.) report this gene to be the ortholog of human GREB1 based on amino acid similarity. Subsequent analysis suggests it is the ortholog of human GREB1L and mouse Greb1l based on amino acid similarity and conserved synteny.
- Liang, F., Zhang, Y., Li, L., Yang, Y., Fei, J.F., Liu, Y., Qin, W. (2022) SpG and SpRY variants expand the CRISPR toolbox for genome editing in zebrafish. Nature communications. 13:3421
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Ghosh, P., Maurer, J.M., Sagerström, C.G. (2018) Analysis of novel caudal hindbrain genes reveals different regulatory logic for gene expression in rhombomere 4 versus 5/6 in embryonic zebrafish. Neural Development. 13:13
- Schrauwen, I., Kari, E., Mattox, J., Llaci, L., Smeeton, J., Naymik, M., Raible, D.W., Knowles, J.A., Crump, J.G., Huentelman, M.J., Friedman, R.A. (2018) De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Human genetics. 137(6-7):459-470
- Brophy, P.D., Rasmussen, M., Parida, M., Bonde, G., Darbro, B.W., Hong, X., Clarke, J.C., Peterson, K.A., Denegre, J., Schneider, M., Sussman, C.R., Sunde, L., Lildballe, D.L., Hertz, J.M., Cornell, R.A., Murray, S.A., Manak, J.R. (2017) A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans. Genetics. 207(1):215-228
- Sanna-Cherchi, S., Khan, K., Westland, R., Krithivasan, P., Fievet, L., Rasouly, H.M., Ionita-Laza, I., Capone, V.P., Fasel, D.A., Kiryluk, K., Kamalakaran, S., Bodria, M., Otto, E.A., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Vukojevic, K., Pediaditakis, I., Makar, G.S., Mitrotti, A., Verbitsky, M., Martino, J., Liu, Q., Na, Y.J., Goj, V., Ardissino, G., Gigante, M., Gesualdo, L., Janezcko, M., Zaniew, M., Mendelsohn, C.L., Shril, S., Hildebrandt, F., van Wijk, J.A.E., Arapovic, A., Saraga, M., Allegri, L., Izzi, C., Scolari, F., Tasic, V., Ghiggeri, G.M., Latos-Bielenska, A., Kiryluk, A.M., Mane, S., Goldstein, D.B., Lifton, R.P., Katsanis, N., Davis, E.E., Gharavi, A.G. (2017) Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. American journal of human genetics. 101:789-802
- 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
- Hsu, C.H., Lin, J.S., Lai, K.P., Li, J.W., Chan, T.F., You, M.S., Tse, W.K., Jiang, Y.J. (2015) A new mib allele with a chromosomal deletion covering foxc1a exhibits anterior somite specification defect.. Scientific Reports. 5:10673
- Koltowska, K., Paterson, S., Bower, N.I., Baillie, G.J., Lagendijk, A.K., Astin, J.W., Chen, H., Francois, M., Crosier, P.S., Taft, R.J., Simons, C., Smith, K.A., Hogan, B.M. (2015) mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish. Genes & Development. 29:1618-30
- Choe, S.K., Zhang, X., Hirsch, N., Straubhaar, J., and Sagerström, C.G. (2011) A screen for hoxb1-regulated genes identifies ppp1r14al as a regulator of the rhombomere 4 Fgf-signaling center. Developmental Biology. 358(2):356-67
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