Gene
camta1b
- ID
- ZDB-GENE-080229-1
- Name
- calmodulin binding transcription activator 1b
- Symbol
- camta1b Nomenclature History
- Previous Names
-
- camta1
- im:7144854
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable double-stranded DNA binding activity and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in nonprogressive cerebellar ataxia with mental retardation. Orthologous to human CAMTA1 (calmodulin binding transcription activator 1).
- 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:7144854 (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 |
|---|---|---|---|---|---|
| sa12769 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13525 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16711 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21967 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21968 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24895 | 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 |
|---|---|---|---|
| nonprogressive cerebellar ataxia with mental retardation | Alliance | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 614756 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | CG-1 DNA-binding domain | Immunoglobulin E-set | Immunoglobulin-like fold | IPT domain | IQ motif, EF-hand binding site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q7V2 | InterPro | 1540 | ||||||||
| UniProtKB:A0A8M9QM43 | InterPro | 1672 | ||||||||
| UniProtKB:A0A8M6Z970 | InterPro | 1673 | ||||||||
| UniProtKB:A0A8M9PVP1 | InterPro | 1666 | ||||||||
| UniProtKB:A0A8M9Q7U3 | InterPro | 1673 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
camta1b-201
(1)
|
Ensembl | 9,538 nt | ||
| mRNA |
camta1b-202
(1)
|
Ensembl | 9,507 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 | CH211-138E4 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-205L13 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7144854 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_017358366 (1) | 9147 nt | ||
| Genomic | GenBank:CR847998 (2) | 195715 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z970 (1) | 1673 aa |
- Comparative Orthology
- Alliance
- Rani, R., Sri, N.S., Medishetti, R., Chatti, K., Sevilimedu, A. (2024) Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome. Human molecular genetics. 33(16):1391-1405
- 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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