Gene
syngap1a
- ID
- ZDB-GENE-060503-370
- Name
- synaptic Ras GTPase activating protein 1a
- Symbol
- syngap1a Nomenclature History
- Previous Names
-
- si:dkeyp-24a7.8
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Predicted to be involved in regulation of intracellular signal transduction. Predicted to act upstream of or within negative regulation of Ras protein signal transduction. Is expressed in brain; forebrain; and hindbrain. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 5. Orthologous to human SYNGAP1 (synaptic Ras GTPase activating protein 1).
- 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
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a370 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| sa10044 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15234 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32224 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36741 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-syngap1a | (2) | |
| CRISPR2-syngap1a | (2) | |
| CRISPR3-syngap1a | (2) | |
| CRISPR4-syngap1a | (2) | |
| MO1-syngap1a | N/A | Kozol et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 5 | Alliance | Intellectual developmental disorder, autosomal dominant 5 | 612621 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023152 | Ras GTPase-activating protein, conserved site |
| Domain | IPR000008 | C2 domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR001936 | Ras GTPase-activating domain |
| Domain | IPR021887 | Disabled homolog 2-interacting protein, C-terminal domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | C2 domain | C2 domain superfamily | Disabled homolog 2-interacting protein, C-terminal domain | PH-like domain superfamily | Pleckstrin homology domain | Ras GTPase-activating domain | Ras GTPase-activating protein | Ras GTPase-activating protein, conserved site | Rho GTPase activation protein | SynGAP, PH domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RP05 | InterPro | 1311 | ||||||||||
| UniProtKB:A0A8M2B5U5 | InterPro | 1313 | ||||||||||
| UniProtKB:A0A8M2B5U2 | InterPro | 1295 | ||||||||||
| UniProtKB:A0A8M3AJW4 | InterPro | 691 | ||||||||||
| UniProtKB:A0A8M3AS94 | InterPro | 1210 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syngap1a-201
(1)
|
Ensembl | 4,480 nt | ||
| mRNA |
syngap1a-202
(1)
|
Ensembl | 3,768 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 | DKEYP-24A7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005159318 (1) | 4797 nt | ||
| Genomic | GenBank:CR548627 (1) | 146348 nt | ||
| Polypeptide | UniProtKB:A0A8M2B5U5 (1) | 1313 aa |
- Comparative Orthology
- Alliance
- Sumathipala, S.H., Khan, S., Kozol, R.A., Araki, Y., Syed, S., Huganir, R.L., Dallman, J.E. (2024) Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related disorder. Frontiers in molecular neuroscience. 17:14017461401746
- Geng, Y., Zhang, T., Alonzo, I.G., Godar, S.C., Yates, C., Pluimer, B.R., Harrison, D.L., Nath, A.K., Yeh, J.J., Drummond, I.A., Bortolato, M., Peterson, R.T. (2022) Top2a promotes the development of social behavior via PRC2 and H3K27me3. Science advances. 8:eabm7069
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Kozol, R.A., Cukier, H.N., Zou, B., Mayo, V., De Rubeis, S., Cai, G., Griswold, A.J., Whitehead, P.L., Haines, J.L., Gilbert, J.R., Cuccaro, M.L., Martin, E.R., Baker, J.D., Buxbaum, J.D., Pericak-Vance, M.A., Dallman, J.E. (2015) Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Human molecular genetics. 24(14):4006-23
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