Gene
cert1a
- ID
- ZDB-GENE-080724-10
- Name
- ceramide transporter 1a
- Symbol
- cert1a Nomenclature History
- Previous Names
-
- col4a3bp
- col4a3bpa
- gpbpΔ26
- gpbp (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to act upstream of or within lipid transport and muscle organ development. Predicted to be located in Golgi apparatus. Predicted to be active in cytosol. Is expressed in immature eye. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 34. Orthologous to human CERT1 (ceramide transporter 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Granero-Moltó et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Granero-Moltó et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa9854 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18820 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa26571 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33707 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40554 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cert1a | Simões et al., 2020 | |
| CRISPR1-cert1a,cert1b | Simões et al., 2020 | |
| MO1-cert1a | N/A | Granero-Moltó et al., 2008 |
| MO2-cert1a | N/A | Granero-Moltó et al., 2008 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 34 | Alliance | Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies | 616351 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | PH-like domain superfamily | Pleckstrin homology domain | STARD11, START domain | START domain | START domain-containing lipid transfer | START-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:F8W2V5 | InterPro | 620 | ||||||
| UniProtKB:Q5M7Y0 | InterPro | 620 | ||||||
| UniProtKB:A0A2R9YJF5 | InterPro | 594 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cert1a-206
(1)
|
Ensembl | 5,357 nt | ||
| mRNA |
cert1a-207
(1)
|
Ensembl | 6,630 nt | ||
| mRNA |
col4a3bpa-201
(1)
|
Ensembl | 1,785 nt | ||
| mRNA |
col4a3bpa-202
(1)
|
Ensembl | 912 nt | ||
| mRNA |
col4a3bpa-204
(1)
|
Ensembl | 3,405 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| AB1-col4a3bp | monoclonal |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-129A6 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-106O5 | ZFIN Curated Data | |
| Encodes | EST | fc37f11 | ZFIN Curated Data | |
| Has Artifact | cDNA | MGC:92147 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001017914 (1) | 3134 nt | ||
| Genomic | GenBank:BX511209 (1) | 159017 nt | ||
| Polypeptide | UniProtKB:F8W2V5 (1) | 620 aa |
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Simões, F.C., Cahill, T.J., Kenyon, A., Gavriouchkina, D., Vieira, J.M., Sun, X., Pezzolla, D., Ravaud, C., Masmanian, E., Weinberger, M., Mayes, S., Lemieux, M.E., Barnette, D.N., Gunadasa-Rohling, M., Williams, R.M., Greaves, D.R., Trinh, L.A., Fraser, S.E., Dallas, S.L., Choudhury, R.P., Sauka-Spengler, T., Riley, P.R. (2020) Macrophages directly contribute collagen to scar formation during zebrafish heart regeneration and mouse heart repair. Nature communications. 11:600
- Burguera, D., Marquez, Y., Racioppi, C., Permanyer, J., Torres-Méndez, A., Esposito, R., Albuixech-Crespo, B., Fanlo, L., D'Agostino, Y., Gohr, A., Navas-Perez, E., Riesgo, A., Cuomo, C., Benvenuto, G., Christiaen, L.A., Martí, E., D'Aniello, S., Spagnuolo, A., Ristoratore, F., Arnone, M.I., Garcia-Fernàndez, J., Irimia, M. (2017) Evolutionary recruitment of flexible Esrp-dependent splicing programs into diverse embryonic morphogenetic processes. Nature communications. 8:1799
- 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
- Granero-Moltó, F., Sarmah, S., O'Rear, L., Spagnoli, A., Abrahamson, D., Saus, J., Hudson, B.G., and Knapik, E.W. (2008) Goodpasture antigen-binding protein and its spliced variant, ceramide transfer protein, have different functions in the modulation of apoptosis during zebrafish development. The Journal of biological chemistry. 283(29):20495-20504
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