Gene
ttc7a
- ID
- ZDB-GENE-010319-27
- Name
- tetratricopeptide repeat domain 7A
- Symbol
- ttc7a Nomenclature History
- Previous Names
-
- id:ibd5135
- si:ch211-93n23.6
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Acts upstream of or within digestive tract development. Predicted to be active in plasma membrane. Is expressed in brain; ectoderm; intestine; and notochord. Human ortholog(s) of this gene implicated in multiple intestinal atresia. Orthologous to human TTC7A (tetratricopeptide repeat domain 7A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Jardine et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2679 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22223 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38921 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa42138 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zf3351 | Allele with one deletion | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple intestinal atresia | Alliance | Gastrointestinal defects and immunodeficiency syndrome | 243150 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Endocytosis and PI4K-regulating protein | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat | Tetratricopeptide repeat protein 7, N-terminal |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PYB7
|
857 | ||||
|
UniProtKB:A0A8M9PFH5
|
885 | ||||
|
UniProtKB:A0A8M1QQW3
|
885 | ||||
|
UniProtKB:A0A8M9QA29
|
848 |
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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 | CH211-93N23 | ZFIN Curated Data | |
| Encodes | EST | ibd5135 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009307117 (1) | 2973 nt | ||
| Genomic | GenBank:BX004962 (2) | 170736 nt | ||
| Polypeptide | UniProtKB:A0A8M1QQW3 (1) | 885 aa |
- Jardine, S., Anderson, S., Babcock, S., Leung, G., Pan, J., Dhingani, N., Warner, N., Guo, C., Siddiqui, I., Kotlarz, D., Dowling, J.J., Melnyk, R., Snapper, S.B., Klein, C., Thiagarajah, J.R., Muise, A.M. (2019) Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency. Gastroenterology. 158(4):1000-1015
- Zhao, S., Xia, J., Wu, X., Zhang, L., Wang, P., Wang, H., Li, H., Wang, X., Chen, Y., Agnetti, J., Li, Y., Pei, D., Shu, X. (2018) Deficiency in class III PI3-kinase confers postnatal lethality with IBD-like features in zebrafish. Nature communications. 9:2639
- 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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