Gene
gemin5
- ID
- ZDB-GENE-031112-9
- Name
- gem (nuclear organelle) associated protein 5
- Symbol
- gemin5 Nomenclature History
- Previous Names
-
- cb926 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable mRNA 3'-UTR binding activity. Acts upstream of or within T cell differentiation and neuromast regeneration. Predicted to be part of SMN complex. Predicted to be active in nucleus. Is expressed in several structures, including alar plate midbrain region; brain; immature eye; liver; and segmental plate. Used to study cerebellar ataxia. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cerebellar atrophy and motor dysfunction. Orthologous to human GEMIN5 (gem nuclear organelle associated protein 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb926 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hg80 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| hg81 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| hg107 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| it342 | Allele with one delins | Exon 16 | Frameshift | CRISPR | |
| it343 | Allele with one deletion | Exon 26 | Unknown | CRISPR | |
| sa24000 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45744 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| t26393 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-gemin5 | Varshney et al., 2015 | |
| CRISPR2-gemin5 | (3) | |
| CRISPR3-gemin5 | Saida et al., 2021 | |
| CRISPR4-gemin5 | Saida et al., 2021 | |
| MO1-gemin5 | N/A | O'Meara et al., 2021 |
| MO2-gemin5 | N/A | O'Meara et al., 2021 |
| MO3-gemin5 | N/A | O'Meara et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Alliance | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 619333 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cerebellar ataxia | gemin5it342/it342 | standard conditions | Saida et al., 2021 |
| cerebellar ataxia | gemin5it343/it343 | standard conditions | Saida et al., 2021 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019775 | WD40 repeat, conserved site |
| Domain | IPR024977 | Anaphase-promoting complex subunit 4-like, WD40 domain |
| Family | IPR052640 | Gem-associated protein 5 |
| Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Anaphase-promoting complex subunit 4-like, WD40 domain | Gem-associated protein 5 | Quinoprotein alcohol dehydrogenase-like superfamily | WD40 repeat | WD40 repeat, conserved site | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:E9QH84 | InterPro | 1440 | ||||||
| UniProtKB:A0A8M3AX38 | InterPro | 1439 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gemin5-201
(1)
|
Ensembl | 4,516 nt | ||
| mRNA |
gemin5-202
(1)
|
Ensembl | 615 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-gemin5 | monoclonal | IgG2a | Mouse |
|
2 |
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-174N5 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-211K10 | ZFIN Curated Data | |
| Encodes | EST | cb926 | Thisse et al., 2001 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001339844 (1) | 4515 nt | ||
| Genomic | GenBank:CR352267 (2) | 143937 nt | ||
| Polypeptide | UniProtKB:E9QH84 (1) | 1440 aa |
- O'Meara, C.P., Guerri, L., Lawir, D.F., Mateos, F., Iconomou, M., Iwanami, N., Soza-Ried, C., Sikora, K., Siamishi, I., Giorgetti, O., Peter, S., Schorpp, M., Boehm, T. (2021) Genetic landscape of T cells identifies synthetic lethality for T-ALL. Communications biology. 4:1201
- Saida, K., Tamaoki, J., Sasaki, M., Haniffa, M., Koshimizu, E., Sengoku, T., Maeda, H., Kikuchi, M., Yokoyama, H., Sakamoto, M., Iwama, K., Sekiguchi, F., Hamanaka, K., Fujita, A., Mizuguchi, T., Ogata, K., Miyake, N., Miyatake, S., Kobayashi, M., Matsumoto, N. (2021) Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy. Clinical genetics. 100(6):722-730
- Pei, W., Xu, L., Chen, Z., Slevin, C.C., Pettie, K.P., Wincovitch, S., NISC Comparative Sequencing Program, Burgess, S.M. (2020) A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation. NPJ Regenerative medicine. 5:6
- Pei, W., Xu, L., Huang, S.C., Pettie, K., Idol, J., Rissone, A., Jimenez, E., Sinclair, J.W., Slevin, C., Varshney, G.K., Jones, M., Carrington, B., Bishop, K., Huang, H., Sood, R., Lin, S., Burgess, S.M. (2018) Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. NPJ Regenerative medicine. 3:11
- Iwanami, N., Sikora, K., Richter, A.S., Mönnich, M., Guerri, L., Soza-Ried, C., Lawir, D.F., Mateos, F., Hess, I., O'Meara, C.P., Schorpp, M., Boehm, T. (2016) Forward Genetic Screens in Zebrafish Identify Pre-mRNA-Processing Pathways Regulating Early T Cell Development. Cell Reports. 17:2259-2270
- 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
- Hao, L.T., Wolman, M., Granato, M., and Beattie, C.E. (2012) Survival motor neuron affects plastin 3 protein levels leading to motor defects. The Journal of neuroscience : the official journal of the Society for Neuroscience. 32(15):5074-5084
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
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