Gene
gphna
- ID
- ZDB-GENE-110127-3
- Name
- gephyrin a
- Symbol
- gphna Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable molybdopterin molybdotransferase activity. Acts upstream of or within glycine receptor clustering. Predicted to be located in cytoskeleton; plasma membrane; and postsynaptic density. Predicted to be active in several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Is expressed in head; myotome; rhombomere; spinal cord; and spinal cord interneuron. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Ogino et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-gphna | Brennan et al., 2024 | |
CRISPR2-gphna | Brennan et al., 2024 | |
MO1-gphna | N/A | Ogino et al., 2011 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
molybdenum cofactor deficiency type C | Alliance | Molybdenum cofactor deficiency C | 615501 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR008284 | Molybdenum cofactor biosynthesis, conserved site |
Domain | IPR001453 | MoaB/Mog domain |
Domain | IPR005110 | MoeA, N-terminal and linker domain |
Domain | IPR005111 | MoeA, C-terminal, domain IV |
Family | IPR038987 | Molybdopterin biosynthesis protein MoeA-like |
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Domain Details Per Protein
Protein | Additional Resources | Length | MoaB/Mog domain | MoaB/Mog-like domain superfamily | MoeA, C-terminal, domain IV | MoeA, C-terminal, domain IV superfamily | MoeA, N-terminal and linker domain | MoeA, N-terminal and linker domain superfamily | Molybdenum cofactor biosynthesis, conserved site | Molybdopterin biosynthesis protein MoeA-like |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9P061 | InterPro | 595 | ||||||||
UniProtKB:D3KYL0 | InterPro | 834 | ||||||||
UniProtKB:A0A8M9PE95 | InterPro | 574 | ||||||||
UniProtKB:A0A8M6Z1J0 | InterPro | 808 | ||||||||
UniProtKB:D3KYK9 | InterPro | 795 |
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Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab2-gphn | monoclonal | IgG1 | Mouse |
|
BD Biosciences
|
4 |
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Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(UAS:FLAG-gphna-2A-mCherry) |
| 1 | Ogino et al., 2019 | ||
Tg(UAS:FLAG-gphna_S325D-2A-mCherry) |
| 1 | Ogino et al., 2019 | ||
Tg(UAS:Venus-gphna) |
|
| 1 | Ogino et al., 2019 |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH73-209D8 | ZFIN Curated Data | |
Contained in | BAC | CH73-307J4 | ZFIN Curated Data | |
Contained in | BAC | DKEY-25L21 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-88I8 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001177444 (1) | 2505 nt | ||
Genomic | GenBank:BX950853 (1) | 214513 nt | ||
Polypeptide | UniProtKB:A0A8M9PE84 (1) | 920 aa |
- Brennan, E.J., Monk, K.R., Li, J. (2024) A zebrafish gephyrinb mutant distinguishes synaptic and enzymatic functions of Gephyrin. Neural Development. 19:1414
- Karampelias, C., Băloiu, B., Rathkolb, B., da Silva-Buttkus, P., Bachar-Wikström, E., Marschall, S., Fuchs, H., Gailus-Durner, V., Chu, L., Hrabě de Angelis, M., Andersson, O. (2024) Examining the liver-pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration. Life science alliance. 7(11):
- Faria, M., Prats, E., Gómez-Canela, C., Hsu, C.Y., Arick, M.A., Bedrossiantz, J., Orozco, M., Garcia-Reyero, N., Ziv, T., Ben-Lulu, S., Admon, A., Gómez-Oliván, L.M., Raldúa, D. (2019) Therapeutic potential of N-acetylcysteine in acrylamide acute neurotoxicity in adult zebrafish. Scientific Reports. 9:16467
- Ogino, K., Yamada, K., Nishioka, T., Oda, Y., Kaibuchi, K., Hirata, H. (2019) Phosphorylation of gephyrin in zebrafish Mauthner cells governs glycine receptor clustering and behavioral desensitization to sound. The Journal of neuroscience : the official journal of the Society for Neuroscience. 39(45):8988-8997
- 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
- Hirata, H., Ogino, K., Yamada, K., Leacock, S., and Harvey, R.J. (2013) Defective Escape Behavior in DEAH-Box RNA Helicase Mutants Improved by Restoring Glycine Receptor Expression. The Journal of neuroscience : the official journal of the Society for Neuroscience. 33(37):14638-14644
- Ogino, K., Ramsden, S.L., Keib, N., Schwarz, G., Harvey, R.J., and Hirata, H. (2011) Duplicated Gephyrin Genes Showing Distinct Tissue Distribution and Alternative Splicing Patterns Mediate Molybdenum Cofactor Biosynthesis, Glycine Receptor Clustering, and Escape Behavior in Zebrafish. The Journal of biological chemistry. 286(1):806-817
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