Gene
plekhg5a
- ID
- ZDB-GENE-060503-766
- Name
- pleckstrin homology domain containing, family G (with RhoGef domain) member 5a
- Symbol
- plekhg5a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within angiogenesis; blood vessel endothelial cell migration; and gastrulation. Predicted to be located in cell projection and cytoplasm. Predicted to be active in axon; endocytic vesicle; and plasma membrane. Is expressed in axial vasculature; dorsal aorta; and intersegmental vessel. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and autosomal recessive distal hereditary motor neuronopathy 4. Orthologous to human PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 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 |
|---|---|---|---|---|---|
| la017777Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa31827 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35079 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41834 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41835 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-plekhg5a | N/A | (2) |
| MO2-plekhg5a | N/A | (2) |
| MO3-plekhg5a | N/A | Ernkvist et al., 2009 |
| MO4-plekhg5a | N/A | Ernkvist et al., 2009 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive distal hereditary motor neuronopathy 4 | Alliance | Neuronopathy, distal hereditary motor, autosomal recessive 4 | 611067 |
| Charcot-Marie-Tooth disease recessive intermediate C | Alliance | Charcot-Marie-Tooth disease, recessive intermediate C | 615376 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000219 | Dbl homology domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Family | IPR040181 | Pleckstrin homology domain-containing family G member 5/7 |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Dbl homology (DH) domain superfamily | Dbl homology domain | PH-like domain superfamily | Pleckstrin homology domain | Pleckstrin homology domain-containing family G member 5/7 | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PVI0 | InterPro | 1146 | ||||||
| UniProtKB:A0A8M9PAS1 | InterPro | 406 | ||||||
| UniProtKB:A0A8M9PM84 | InterPro | 395 | ||||||
| UniProtKB:A0A0R4ISX1 | InterPro | 1135 | ||||||
| UniProtKB:A0A8M1QHY5 | InterPro | 860 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
plekhg5a-201
(1)
|
Ensembl | 5,637 nt | ||
| mRNA |
plekhg5a-203
(1)
|
Ensembl | 434 nt | ||
| mRNA |
plekhg5a-204
(1)
|
Ensembl | 4,936 nt | ||
| mRNA |
plekhg5a-205
(1)
|
Ensembl | 5,767 nt | ||
| mRNA |
plekhg5a-206
(1)
|
Ensembl | 6,028 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 | CH211-15P9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-27B23 | ZFIN Curated Data | |
| Encodes | EST | wz11960 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009306045 (1) | 4571 nt | ||
| Genomic | GenBank:BX072564 (1) | 205057 nt | ||
| Polypeptide | UniProtKB:F1R1Q2 (1) | 1157 aa |
- Kimura, T., Takehana, Y., Naruse, K. (2017) pnp4a Is the Causal Gene of the Medaka Iridophore Mutant guanineless.. G3 (Bethesda). 7(4):1357-1363
- Wei, S., Dai, M., Liu, Z., Ma, Y., Shang, H., Cao, Y., Wang, Q. (2017) The guanine nucleotide exchange factor Net1 facilitates the specification of dorsal cell fates in zebrafish embryos by promoting maternal β-catenin activation. Cell Research. 27(2):202-225
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Goh, L.L., and Manser, E. (2010) The RhoA GEF Syx is a target of Rnd3 and regulated via a Raf1-like ubiquitin-related domain. PLoS One. 5(8):pii: e12409
- Ernkvist, M., Luna Persson, N., Audebert, S., Lecine, P., Sinha, I., Liu, M., Schlueter, M., Horowitz, A., Aase, K., Weide, T., Borg, J.P., Majumdar, A., and Holmgren, L. (2009) The Amot/Patj/Syx signaling complex spatially controls RhoA GTPase activity in migrating endothelial cells. Blood. 113(1):244-253
- Wong, K.S., Proulx, K., Rost, M.S., and Sumanas, S. (2009) Identification of vasculature-specific genes by microarray analysis of etsrp/etv2 overexpressing zebrafish embryos. Developmental Dynamics : an official publication of the American Association of Anatomists. 238(7):1836-1850
- Garnaas, M.K., Moodie, K.L., Liu, M.L., Samant, G.V., Li, K., Marx, R., Baraban, J.M., Horowitz, A., and Ramchandran, R. (2008) Syx, a RhoA Guanine Exchange Factor, Is Essential for Angiogenesis In Vivo. Circulation research. 103(7):710-716
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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