Gene
ccdc88aa
- ID
- ZDB-GENE-100701-2
- Name
- coiled-coil domain containing 88Aa
- Symbol
- ccdc88aa Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable dynein light intermediate chain binding activity and microtubule binding activity. Predicted to be involved in cytoplasmic microtubule organization and cytoskeleton-dependent intracellular transport. Predicted to be active in centrosome and cytoplasm. Orthologous to human CCDC88A (coiled-coil domain containing 88A).
- 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 |
---|---|---|---|---|---|
sa11239 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa12136 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa17212 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa26670 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa33796 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa38537 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa40629 | 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 |
---|---|---|---|
PEHO syndrome-like | 617507 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Calponin homology domain | CH domain superfamily | HOOK, N-terminal |
---|---|---|---|---|---|
UniProtKB:A0A8M3B070 | InterPro | 1472 | |||
UniProtKB:A0A8M3BA59 | InterPro | 1554 | |||
UniProtKB:A0A8M9P931 | InterPro | 1553 | |||
UniProtKB:A0A8M9PK76 | InterPro | 1550 | |||
UniProtKB:A0A8M3AT37 | InterPro | 1550 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
ccdc88aa-201
(1)
|
Ensembl | 4,649 nt | ||
mRNA |
ccdc88aa-202
(1)
|
Ensembl | 348 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 | DKEY-103K8 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-158I10 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_021471701 (1) | 7368 nt | ||
Genomic | GenBank:BX324134 (2) | 219514 nt | ||
Polypeptide | UniProtKB:A0A8M3BA59 (1) | 1554 aa |
- Comparative Orthology
- Alliance
- Ear, J., Abd El-Hafeez, A.A., Roy, S., Ngo, T., Rajapakse, N., Choi, J., Khandelwal, S., Ghassemian, M., McCaffrey, L., Kufareva, I., Sahoo, D., Ghosh, P. (2021) A long isoform of GIV/Girdin contains a PDZ-binding module that regulates localization and G-protein binding. The Journal of biological chemistry. 296:100493
- 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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