Gene
pstpip1a
- ID
- ZDB-GENE-050419-251
- Name
- proline-serine-threonine phosphatase interacting protein 1a
- Symbol
- pstpip1a Nomenclature History
- Previous Names
-
- si:dkey-24l11.5
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to be active in cytoplasm and plasma membrane. Human ortholog(s) of this gene implicated in PAPA syndrome. Orthologous to human PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa18162 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| PAPA syndrome | Alliance | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | 604416 |
| Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia | 601979 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AH/BAR domain superfamily | F-BAR domain | FCH domain | PSTPIP1, SH3 domain | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q1LX61 | InterPro | 418 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pstpip1a-201
(1)
|
Ensembl | 1,262 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-24L11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045216 (1) | 1262 nt | ||
| Genomic | GenBank:BX470164 (1) | 248419 nt | ||
| Polypeptide | UniProtKB:Q1LX61 (1) | 418 aa |
- Pereiro, P., Forn-Cuní, G., Dios, S., Coll, J., Figueras, A., Novoa, B. (2017) Interferon-independent antiviral activity of 25-hydroxycholesterol in a teleost fish. Antiviral Research. 145:146-159
- 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
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