Gene
gfra1a
- ID
- ZDB-GENE-010226-2
- Name
- gdnf family receptor alpha 1a
- Symbol
- gfra1a Nomenclature History
- Previous Names
-
- zgc:110129
- zmp:0000001075
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables MAP kinase kinase kinase activity. Acts upstream of or within enteric nervous system development and protein-containing complex assembly. Predicted to be located in plasma membrane and side of membrane. Predicted to be part of receptor complex. Predicted to be active in external side of plasma membrane. Is expressed in germ line cell; nervous system; pleuroperitoneal region; presumptive enteric nervous system; and vagal neural crest. Human ortholog(s) of this gene implicated in renal agenesis. Orthologous to human GFRA1 (GDNF family receptor alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 9 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 |
|---|---|---|---|---|---|
| sa8781 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9341 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14181 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22273 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22274 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42179 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-gfra1a | Moreno-Campos et al., 2024 | |
| MO1-gfra1a | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Renal hypodysplasia/aplasia 4 | 619887 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR016017 | GDNF/GAS1 |
| Family | IPR003438 | Glial cell line-derived neurotrophic factor receptor |
| Family | IPR003503 | Glial cell line-derived neurotrophic factor receptor, alpha 1 |
| Family | IPR017372 | Glial cell line-derived neurotrophic factor receptor, alpha 1/2 |
| Homologous_superfamily | IPR037193 | GDNF receptor alpha |
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Domain Details Per Protein
| Protein | Length | GDNF/GAS1 | GDNF receptor alpha | Glial cell line-derived neurotrophic factor receptor | Glial cell line-derived neurotrophic factor receptor, alpha 1 | Glial cell line-derived neurotrophic factor receptor, alpha 1/2 |
|---|---|---|---|---|---|---|
|
UniProtKB:Q98TT9
|
472 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gfra1a-201
(1)
|
Ensembl | 1,422 nt | ||
| mRNA |
gfra1a-202
(1)
|
Ensembl | 2,211 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-gfra1 | polyclonal | Rabbit |
|
Santa Cruz Biotechnology, Inc.
|
3 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-126C3 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110129 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:162478 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131730 (1) | 1419 nt | ||
| Genomic | GenBank:CU633804 (1) | 36517 nt | ||
| Polypeptide | UniProtKB:Q98TT9 (1) | 472 aa |
- Moreno-Campos, R., Singleton, E.W., Uribe, R.A. (2024) A targeted CRISPR-Cas9 mediated F0 screen identifies genes involved in establishment of the enteric nervous system. PLoS One. 19:e0303914e0303914
- Liao, X., Tao, B., Zhang, X., Chen, L., Chen, J., Song, Y., Hu, W. (2023) Loss of gdnfa disrupts spermiogenesis and male courtship behavior in zebrafish. Molecular and Cellular Endocrinology. 576:112010
- Doretto, L.B., Butzge, A.J., Nakajima, R.T., Martinez, E.R.M., de Souza, B.M., Rodrigues, M.D.S., Rosa, I.F., Ricci, J.M.B., Tovo-Neto, A., Costa, D.F., Malafaia, G., Shao, C., Nóbrega, R.H. (2022) Gdnf Acts as a Germ Cell-Derived Growth Factor and Regulates the Zebrafish Germ Stem Cell Niche in Autocrine- and Paracrine-Dependent Manners. Cells. 11(8):
- Adams, S.E., Purkiss, A.G., Knowles, P.P., Nans, A., Briggs, D.C., Borg, A., Earl, C.P., Goodman, K.M., Nawrotek, A., Borg, A.J., McIntosh, P.B., Houghton, F.M., Kjær, S., McDonald, N.Q. (2021) A two-site flexible clamp mechanism for RET-GDNF-GFRα1 assembly reveals both conformational adaptation and strict geometric spacing. Structure (London, England : 1993). 29(7):694-708.e7
- Howard, A.G., Baker, P.A., Ibarra-García-Padilla, R., Moore, J.A., Rivas, L.J., Tallman, J.J., Singleton, E.W., Westheimer, J.L., Corteguera, J.A., Uribe, R.A. (2021) An atlas of neural crest lineages along the posterior developing zebrafish at single-cell resolution. eLIFE. 10:
- Liu, Y., Kaljunen, H., Pavić, A., Saarenpää, T., Himanen, J.P., Nikolov, D.B., Goldman, A. (2018) Binding of EphrinA5 to RET receptor tyrosine kinase: An in vitro study. PLoS One. 13:e0198291
- Shimizu, N., Matsuda, M. (2018) Identification of a Novel Zebrafish Mutant Line that Develops Testicular Germ Cell Tumors. Zebrafish. 16(1):15-28
- Saarenpää, T., Kogan, K., Sidorova, Y., Mahato, A.K., Tascón, I., Kaljunen, H., Yu, L., Kallijärvi, J., Jurvansuu, J., Saarma, M., Goldman, A. (2017) Zebrafish GDNF and its co-receptor GFRα1 activate the human RET receptor and promote the survival of dopaminergic neurons in vitro. PLoS One. 12:e0176166
- Mosimann, C., Panáková, D., Werdich, A.A., Musso, G., Burger, A., Lawson, K.L., Carr, L.A., Nevis, K.R., Sabeh, M.K., Zhou, Y., Davidson, A.J., DiBiase, A., Burns, C.E., Burns, C.G., MacRae, C.A., Zon, L.I. (2015) Chamber identity programs drive early functional partitioning of the heart. Nature communications. 6:8146
- Goodman, K.M., Kjær, S., Beuron, F., Knowles, P.P., Nawrotek, A., Burns, E.M., Purkiss, A.G., George, R., Santoro, M., Morris, E.P., McDonald, N.Q. (2014) RET recognition of GDNF-GFRα1 ligand by a composite binding site promotes membrane-proximal self-association. Cell Reports. 8:1894-904
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