Gene
dlat
- ID
- ZDB-GENE-030131-2921
- Name
- dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
- Symbol
- dlat Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Contributes to pyruvate dehydrogenase activity. Acts upstream of or within acetyl-CoA biosynthetic process from pyruvate and detection of light stimulus involved in visual perception. Predicted to be part of pyruvate dehydrogenase complex. Is expressed in several structures, including adaxial cell; ectoderm; head; immature eye; and pronephric duct. Used to study lactic acidosis and pyruvate decarboxylase deficiency. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Baxendale et al., 2009
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pyruvate decarboxylase deficiency | Alliance | Pyruvate dehydrogenase E2 deficiency | 245348 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR003016 | 2-oxo acid dehydrogenase, lipoyl-binding site |
| Domain | IPR000089 | Biotin/lipoyl attachment |
| Domain | IPR001078 | 2-oxoacid dehydrogenase acyltransferase, catalytic domain |
| Domain | IPR004167 | Peripheral subunit-binding domain |
| Family | IPR006257 | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex |
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Domain Details Per Protein
| Protein | Length | 2-oxoacid dehydrogenase acyltransferase, catalytic domain | 2-oxo acid dehydrogenase, lipoyl-binding site | Biotin/lipoyl attachment | Chloramphenicol acetyltransferase-like domain superfamily | Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex | E3-binding domain superfamily | Peripheral subunit-binding domain | Single hybrid motif |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F6NRK1
|
652 | |||||||||
|
UniProtKB:Q804C3
|
652 |
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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 | CH73-285B21 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-14B8 | ZFIN Curated Data | |
| Contains | SNP | rs3729104 | ZFIN Curated Data | |
| Contains | SNP | rs3729105 | ZFIN Curated Data | |
| Encodes | EST | fc14f10 | ||
| Encodes | EST | fc21f08 | ||
| Encodes | EST | fc86g11 | ||
| Encodes | EST | fj57d06 | ||
| Encodes | cDNA | MGC:194568 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194582 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212667 (1) | 3306 nt | ||
| Genomic | GenBank:BX296544 (2) | 121579 nt | ||
| Polypeptide | UniProtKB:F6NRK1 (1) | 652 aa |
- Li, Y., Liu, C., Rolling, L., Sikora, V., Chen, Z., Gurwin, J., Barabell, C., Lin, J., Duan, C. (2023) ROS signaling-induced mitochondrial Sgk1 expression regulates epithelial cell renewal. Proceedings of the National Academy of Sciences of the United States of America. 120:e2216310120e2216310120
- Wu, C., Zhang, W., Luo, Y., Cheng, C., Wang, X., Jiang, Y., Li, S., Luo, L., Yang, Y. (2023) Zebrafish ppp1r21 mutant as a model for the study of primary biliary cholangitis. Journal of genetics and genomics = Yi chuan xue bao. 50(12):1004-1013
- Brandão, A.S., Borbinha, J., Pereira, T., Brito, P.H., Lourenço, R., Bensimon-Brito, A., Jacinto, A. (2022) A regeneration-triggered metabolic adaptation is necessary for cell identity transitions and cell cycle re-entry to support blastema formation and bone regeneration. eLIFE. 11
- Hatzold, J., Wessendorf, H., Pogoda, H.M., Bloch, W., Hammerschmidt, M. (2021) The Kunitz-type serine protease inhibitor Spint2 is required for cellular cohesion, coordinated cell migration and cell survival during zebrafish hatching gland development. Developmental Biology. 476:148-170
- Saddala, M.S., Lennikov, A., Bouras, A., Huang, H. (2020) RNA-Seq reveals differential expression profiles and functional annotation of genes involved in retinal degeneration in Pde6c mutant Danio rerio. BMC Genomics. 21:132
- Zhang, J., Qian, L., Wang, C., Teng, M., Duan, M., Chen, X., Li, X., Wang, C. (2020) UPLC-TOF-MS/MS metabolomics analysis of zebrafish metabolism by spirotetramat. Environmental pollution (Barking, Essex : 1987). 266:115310
- 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
- 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
- Ferriero, R., Manco, G., Lamantea, E., Nusco, E., Ferrante, M.I., Sordino, P., Stacpoole, P.W., Lee, B., Zeviani, M., and Brunetti-Pierri, N. (2013) Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Science Translational Medicine. 5(175):175ra31
- Baxendale, S., Chen, C.K., Tang, H., Davison, C., Hateren, L.V., Croning, M.D., Humphray, S.J., Hubbard, S.J., and Ingham, P.W. (2009) Expression screening and annotation of a zebrafish myoblast cDNA library. Gene expression patterns : GEP. 9(2):73-82
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