Gene
aldh18a1
- ID
- ZDB-GENE-030131-5602
- Name
- aldehyde dehydrogenase 18 family, member A1
- Symbol
- aldh18a1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable glutamate-5-semialdehyde dehydrogenase activity. Predicted to be involved in L-proline biosynthetic process. Predicted to act upstream of or within phosphorylation and proline biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including central nervous system; endocrine system; eye; immature eye; and tail bud. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 31 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb842 (12 images)
- cb881 (3 images)
- cb899 (5 images)
- IMAGE:7165398 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la018205Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa27981 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35325 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant cutis laxa 3 | Alliance | Cutis laxa, autosomal dominant 3 | 616603 |
| autosomal recessive cutis laxa type IIIA | Alliance | Cutis laxa, autosomal recessive, type IIIA | 219150 |
| hereditary spastic paraplegia 9A | Alliance | Spastic paraplegia 9A, autosomal dominant | 601162 |
| hereditary spastic paraplegia 9B | Alliance | Spastic paraplegia 9B, autosomal recessive | 616586 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019797 | Glutamate 5-kinase, conserved site |
| Conserved_site | IPR020593 | Gamma-glutamyl phosphate reductase GPR, conserved site |
| Domain | IPR000965 | GPR domain |
| Domain | IPR001048 | Aspartate/glutamate/uridylate kinase |
| Domain | IPR015590 | Aldehyde dehydrogenase domain |
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Domain Details Per Protein
| Protein | Length | Acetylglutamate kinase-like superfamily | Aldehyde dehydrogenase, C-terminal | Aldehyde dehydrogenase domain | Aldehyde dehydrogenase, N-terminal | Aldehyde/histidinol dehydrogenase | Aspartate/glutamate/uridylate kinase | Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain | Delta l-pyrroline-5-carboxylate synthetase | Gamma-glutamyl phosphate reductase GPR, conserved site | Glutamate 5-kinase, conserved site | Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase | Glutamate/acetylglutamate kinase | GPR domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AYJ5
|
803 | |||||||||||||
|
UniProtKB:A4IGC8
|
782 | |||||||||||||
|
UniProtKB:A0A8M3B4R7
|
805 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
aldh18a1-201
(1)
|
Ensembl | 4,416 nt | ||
| mRNA |
aldh18a1-202
(1)
|
Ensembl | 5,543 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 | CH211-140C18 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-41E15 | ZFIN Curated Data | |
| Contains | SNP | rs3728509 | ZFIN Curated Data | |
| Encodes | EST | cb842 | Thisse et al., 2001 | |
| Encodes | EST | cb881 | Thisse et al., 2001 | |
| Encodes | EST | cb899 | Thisse et al., 2001 | |
| Encodes | EST | fa91f10 | ||
| Encodes | EST | fi05f11 | ||
| Encodes | EST | fi17d12 | ||
| Encodes | EST | fi50d09 | Rauch et al., 2003 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001083546 (1) | 4424 nt | ||
| Genomic | GenBank:CR751608 (1) | 209340 nt | ||
| Polypeptide | UniProtKB:A0A8M3B4R7 (1) | 805 aa |
- Lu, Y., Travnickova, J., Badonyi, M., Rambow, F., Coates, A., Khan, Z., Marques, J., Murphy, L.C., Garcia-Martinez, P., Marais, R., Louphrasitthiphol, P., Chan, A.H.Y., Schofield, C.J., von Kriegsheim, A., Marsh, J.A., Pavet, V., Sansom, O.J., Illingworth, R.S., Patton, E.E. (2024) ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma. Cell Reports. 43:114406114406
- Brunsdon, H., Brombin, A., Peterson, S., Postlethwait, J.H., Patton, E.E. (2022) Aldh2 is a lineage-specific metabolic gatekeeper in melanocyte stem cells. Development (Cambridge, England). 149(10):
- Lou, B., Boger, M., Bennewitz, K., Sticht, C., Kopf, S., Morgenstern, J., Fleming, T., Hell, R., Yuan, Z., Nawroth, P.P., Kroll, J. (2020) Elevated 4-hydroxynonenal induces hyperglycaemia via Aldh3a1 loss in zebrafish and associates with diabetes progression in humans. Redox Biology. 37:101723
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Zhou, L., Ishizaki, H., Spitzer, M., Taylor, K.L., Temperley, N.D., Johnson, S.L., Brear, P., Gautier, P., Zeng, Z., Mitchell, A., Narayan, V., McNeil, E.M., Melton, D.W., Smith, T.K., Tyers, M., Westwood, N.J., and Patton, E.E. (2012) ALDH2 Mediates 5-Nitrofuran Activity in Multiple Species. Chemistry & Biology. 19(7):883-892
- Ma, A.C., Chung, M.I., Liang, R., and Leung, A.Y. (2010) A DEAB-sensitive aldehyde dehydrogenase regulates hematopoietic stem and progenitor cells development during primitive hematopoiesis in zebrafish embryos. Leukemia. 24(12):2090-2099
- De Wit, M., Keil, D., Remmerie, N., Ven, K.V., Brandhof, E.J., Knapen, D., Witters, E., and Coen, W.D. (2008) Molecular targets of TBBPA in zebrafish analysed through integration of genomic and proteomic approaches. Chemosphere. 74(1):96-105
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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