Gene
zgc:100846
- ID
- ZDB-GENE-040801-47
- Name
- zgc:100846
- Symbol
- zgc:100846 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within several processes, including swimming; swimming behavior; and thigmotaxis. Predicted to be active in autophagosome and endosome. Is expressed in several structures, including central nervous system; heart; integument; liver; and pleuroperitoneal region. Used to study amyotrophic lateral sclerosis. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139850 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ihb827 | Allele with one deletion | Exon 5 | Unknown | CRISPR | |
| ihb828 | Allele with one deletion | Exon 5 | Unknown | CRISPR | |
| mde44 | Allele with one deletion | Exon 2 | Premature Stop | CRISPR | |
| sa30667 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| ue79 | Allele with one delins | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Alliance | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 105550 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR027819 | Guanine nucleotide exchange factor C9orf72 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Guanine nucleotide exchange factor C9orf72 |
|---|---|---|---|
| UniProtKB:Q6TLH8 | InterPro | 462 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zgc:100846-201
(1)
|
Ensembl | 2,427 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg2(ubb:zgc:100846-3xV5,hsp70l:DsRed) |
| 1 | Burrows et al., 2024 | ||
| Tg3(ubb:zgc:100846-3xV5,hsp70l:DsRed) |
| 1 | Burrows et al., 2024 | ||
| Tg(UAS:zgc:100846-2xGGGGCC-GFP) |
|
| 2 | Ohki et al., 2017 | |
| Tg(UAS:zgc:100846-80xGGGGCC-GFP) |
|
| 2 | Ohki et al., 2017 | |
| Tg(ubb:zgc:100846-3xV5,hsp70l:DsRed) |
| 1 | Burrows et al., 2024 | ||
| Tg(ubb:zgc:100846_89xCCCCGG,hsp70l:DsRed) |
|
| 2 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-129A13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-221B16 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7139850 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:100846 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_205603 (1) | 1720 nt | ||
| Genomic | GenBank:CR555301 (2) | 168518 nt | ||
| Polypeptide | UniProtKB:Q6TLH8 (1) | 462 aa |
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Burrows, D.J., McGown, A., Abduljabbar, O., Castelli, L.M., Shaw, P.J., Hautbergue, G.M., Ramesh, T.M. (2024) RAN Translation of C9orf72-Related Dipeptide Repeat Proteins in Zebrafish Recapitulates Hallmarks of Amyotrophic Lateral Sclerosis and Identifies Hypothermia as a Therapeutic Strategy. Annals of neurology. 96(6):1058-1069
- de Calbiac, H., Renault, S., Haouy, G., Jung, V., Roger, K., Zhou, Q., Campanari, M.L., Chentout, L., Demy, D.L., Marian, A., Goudin, N., Edbauer, D., Guerrera, C., Ciura, S., Kabashi, E. (2024) Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects. Autophagy. 20:216421852164-2185
- Jaroszynska, N., Salzinger, A., Tsarouchas, T.M., Becker, C.G., Becker, T., Lyons, D.A., MacDonald, R.B., Keatinge, M. (2024) C9ORF72 deficiency results in neurodegeneration in the zebrafish retina. The Journal of neuroscience : the official journal of the Society for Neuroscience. 44(25):
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Boddy, S., Islam, M., Moll, T., Kurz, J., Burrows, D., McGown, A., Bhargava, A., Julian, T.H., Harvey, C., Marshall, J.N., Hall, B.P., Allen, S.P., Kenna, K.P., Sanderson, E., Zhang, S., Ramesh, T., Snyder, M.P., Shaw, P.J., McDermott, C., Cooper-Knock, J. (2022) Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain communications. 4:fcac069
- Chaytow, H., Carroll, E., Gordon, D., Huang, Y.T., van der Hoorn, D., Smith, H.L., Becker, T., Becker, C.G., Faller, K.M.E., Talbot, K., Gillingwater, T.H. (2022) Targeting phosphoglycerate kinase 1 with terazosin improves motor neuron phenotypes in multiple models of amyotrophic lateral sclerosis. EBioMedicine. 83:104202
- Quelle-Regaldie, A., Folgueira, M., Yáñez, J., Sobrido-Cameán, D., Alba-González, A., Barreiro-Iglesias, A., Sobrido, M.J., Sánchez, L. (2022) A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype. Biomedicines. 10(8)
- Butti, Z., Pan, Y.E., Giacomotto, J., Patten, S.A. (2021) Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish. Communications biology. 4:792
- Keatinge, M., Tsarouchas, T.M., Munir, T., Porter, N.J., Larraz, J., Gianni, D., Tsai, H.H., Becker, C.G., Lyons, D.A., Becker, T. (2021) CRISPR gRNA phenotypic screening in zebrafish reveals pro-regenerative genes in spinal cord injury. PLoS Genetics. 17:e1009515
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