Gene
synj1
- ID
- ZDB-GENE-030131-9180
- Name
- synaptojanin 1
- Symbol
- synj1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables phosphatidylinositol phosphate 4-phosphatase activity and phosphatidylinositol phosphate 5-phosphatase activity. Acts upstream of or within several processes, including detection of visible light; retinal cone cell development; and vesicle cytoskeletal trafficking. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in cytoplasm and membrane. Is expressed in brain; hair cell; inner ear; and retina. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 20; and developmental and epileptic encephalopathy 53. Orthologous to human SYNJ1 (synaptojanin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a14 | Allele with one point mutation | Unknown | Premature Stop | not specified | |
| s564 | Allele with one point mutation | Donor Splice Site of Intron 20 | Frameshift | ENU | |
| sa8515 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa9358 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa12222 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18986 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa21748 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21749 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa27618 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34917 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 10 of 16
Show
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 53 | Alliance | Developmental and epileptic encephalopathy 53 | 617389 |
| Parkinson's disease 20 | Alliance | Parkinson disease 20, early-onset | 615530 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Endonuclease/exonuclease/phosphatase superfamily | Inositol 5-phosphatase | Inositol polyphosphate-related phosphatase | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily | RNA recognition motif domain | SAC domain | Synaptojanin-1/2, RNA recognition motif |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2B1N6 | InterPro | 1612 | ||||||||
| UniProtKB:A0A8M3AWP0 | InterPro | 1604 | ||||||||
| UniProtKB:A0A8M3B662 | InterPro | 1583 | ||||||||
| UniProtKB:A0A8M2B1I1 | InterPro | 1570 | ||||||||
| UniProtKB:A0A8M2B1W8 | InterPro | 1599 |
1 - 5 of 13 Show all
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007030 (1) | 4909 nt | ||
| Genomic | GenBank:BX323879 (1) | 243476 nt | ||
| Polypeptide | UniProtKB:A0A8M2B1N6 (1) | 1612 aa |
- Comparative Orthology
- Alliance
- Gao, Y., Nicolson, T. (2021) Temporal Vestibular Deficits in synaptojanin 1 (synj1) Mutants. Frontiers in molecular neuroscience. 13:604189
- Beckwith-Cohen, B., Holzhausen, L.C., Wang, T.M., Rajappa, R., Kramer, R.H. (2018) Localizing proton-mediated inhibitory feedback at the retinal horizontal cell-cone synapse with genetically-encoded pH probes. The Journal of neuroscience : the official journal of the Society for Neuroscience. 39(4):651-662
- Huang, D.F., Wang, M.Y., Yin, W., Ma, Y.Q., Wang, H., Xue, T., Ren, D.L., Hu, B. (2018) Zebrafish Lacking Circadian Gene per2 Exhibit Visual Function Deficiency.. Frontiers in behavioral neuroscience. 12:53
- 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
- George, A.A., Hayden, S., Stanton, G.R., Brockerhoff, S.E. (2016) Arf6 and the 5'phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptors. Inside the cell. 1:117-133
- George, A.A., Hayden, S., Stanton, G.R., Brockerhoff, S.E. (2016) Arf6 and the 5'phosphatase of synaptojanin 1 regulate autophagy in cone photoreceptors. BioEssays : news and reviews in molecular, cellular and developmental biology. 38 Suppl 1:S119-35
- George, A.A., Hayden, S., Holzhausen, L.C., Ma, E.Y., Suzuki, S.C., Brockerhoff, S.E. (2014) Synaptojanin 1 is required for endolysosomal trafficking of synaptic proteins in cone photoreceptor inner segments. PLoS One. 9(1):e84394
- Jia, S., Muto, A., Orisme, W., Henson, H.E., Parupalli, C., Ju, B., Baier, H., and Taylor, M.R. (2014) Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation. Human molecular genetics. 23(11):2981-94
- Mo, W., Chen, F., Nechiporuk, A., and Nicolson, T. (2010) Quantification of vestibular-induced eye movements in zebrafish larvae. BMC Neuroscience. 11:110
- Zhang, C., Song, Y., Thompson, D.A., Madonna, M.A., Millhauser, G.L., Toro, S., Varga, Z., Westerfield, M., Gamse, J., Chen, W., Cone, R.D. (2010) Pineal-specific agouti protein regulates teleost background adaptation. Proceedings of the National Academy of Sciences of the United States of America. 107(47):20164-71
1 - 10 of 27
Show