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 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 |
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 |
| Domain | IPR037779 | SynGAP, PH domain |
| Family | IPR039360 | Ras GTPase-activating protein |
| Homologous_superfamily | IPR008936 | Rho GTPase activation protein |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
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 |
| 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 |
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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