Gene
mast1b
- ID
- ZDB-GENE-131025-2
- Name
- microtubule associated serine/threonine kinase 1b
- Symbol
- mast1b Nomenclature History
- Previous Names
-
- id:ibd3427
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in brain development; cytoskeleton organization; and intracellular signal transduction. Predicted to act upstream of or within protein phosphorylation. Predicted to be located in cytoplasm. Is expressed in hindbrain; midbrain; spinal cord; telencephalon; and yolk syncytial layer. Human ortholog(s) of this gene implicated in female breast cancer and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations. Orthologous to human MAST1 (microtubule associated serine/threonine kinase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Kudoh et al., 2001
- 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 |
|---|---|---|---|---|---|
| sa11571 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15819 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19944 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38372 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-mast1b | (2) | |
| CRISPR2-mast1b | (2) | |
| CRISPR3-mast1b | (2) | |
| CRISPR4-mast1b | (2) | |
| CRISPR5-mast1b | (2) | |
| CRISPR6-mast1b | (2) | |
| CRISPR7-mast1b | (2) | |
| CRISPR8-mast1b | LaCoursiere et al., 2024 | |
| CRISPR9-mast1b | LaCoursiere et al., 2024 | |
| CRISPR10-mast1b | LaCoursiere et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | Alliance | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 618273 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR000961 | AGC-kinase, C-terminal |
| Domain | IPR001478 | PDZ domain |
| Domain | IPR015022 | Microtubule-associated serine/threonine-protein kinase, pre-PK domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | AGC-kinase, C-terminal | Microtubule-associated serine/threonine-protein kinase, catalytic domain | Microtubule-associated serine/threonine-protein kinase, pre-PK domain | Microtubule-associated serine/threonine-protein kinase, pre-PK domain superfamily | PDZ domain | PDZ superfamily | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Serine/threonine-protein kinases, AGC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AXQ6 | InterPro | 1634 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mast1b-201
(1)
|
Ensembl | 4,776 nt | ||
| mRNA |
mast1b-202
(1)
|
Ensembl | 7,288 nt | ||
| mRNA |
mast1b-203
(1)
|
Ensembl | 2,310 nt | ||
| mRNA |
mast1b-204
(1)
|
Ensembl | 4,722 nt | ||
| mRNA |
mast1b-205
(1)
|
Ensembl | 4,764 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 | CH211-93G18 | ZFIN Curated Data | |
| Encodes | EST | ibd3427 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009299113 (1) | 9325 nt | ||
| Genomic | GenBank:CR548626 (2) | 167672 nt | ||
| Polypeptide | UniProtKB:A0A8M3AXQ6 (1) | 1634 aa |
- Comparative Orthology
- Alliance
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Garcia-Concejo, A., Larhammar, D. (2021) Protein kinase C family evolution in jawed vertebrates. Developmental Biology. 479:77-90
- 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
- Moreno-Mateos, M.A., Vejnar, C.E., Beaudoin, J.D., Fernandez, J.P., Mis, E.K., Khokha, M.K., Giraldez, A.J. (2015) CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo. Nature Methods. 12:982-8
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