Gene
ppp1r3ab
- ID
- ZDB-GENE-050309-246
- Name
- protein phosphatase 1, regulatory subunit 3Ab
- Symbol
- ppp1r3ab Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable glycogen binding activity and protein phosphatase 1 binding activity. Predicted to be involved in regulation of glycogen biosynthetic process. Predicted to be located in membrane. Predicted to be part of protein phosphatase type 1 complex. Human ortholog(s) of this gene implicated in hypoglycemia and type 2 diabetes mellitus. Orthologous to human PPP1R3A (protein phosphatase 1 regulatory subunit 3A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153078 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa11483 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11706 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24675 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24676 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24677 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30253 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44303 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| type 2 diabetes mellitus | Alliance | Insulin resistance, severe, digenic | 125853 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CBM21 (carbohydrate binding type-21) domain | CBM21 domain superfamily | Protein phosphatase 1 regulatory subunit 3 |
|---|---|---|---|---|---|
| UniProtKB:A0A8M1PZH2 | InterPro | 1207 | |||
| UniProtKB:E7EZR5 | InterPro | 1207 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ppp1r3ab-201
(1)
|
Ensembl | 5,785 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 | CH211-147K9 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7153078 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001341262 (1) | 4948 nt | ||
| Genomic | RefSeq:NW_018395202 (1) | 257270 nt | ||
| Polypeptide | UniProtKB:A0A8M1PZH2 (1) | 1207 aa |
- 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
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