Gene
pdhx
- ID
- ZDB-GENE-040426-1539
- Name
- pyruvate dehydrogenase complex component X
- Symbol
- pdhx Nomenclature History
- Previous Names
-
- zgc:66110
- zgc:85977 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups. Predicted to act upstream of or within pyruvate decarboxylation to acetyl-CoA. Predicted to be located in mitochondrial matrix. Predicted to be part of pyruvate dehydrogenase complex. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency and sarcoma. Orthologous to human PDHX (pyruvate dehydrogenase complex component X).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85977 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa30318 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pyruvate decarboxylase deficiency | Alliance | Lacticacidemia due to PDX1 deficiency | 245349 |
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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 | IPR045257 | Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component |
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Domain Details Per Protein
| Protein | Additional Resources | 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 | E3-binding domain superfamily | Peripheral subunit-binding domain | Single hybrid motif |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BI02 | InterPro | 490 | ||||||||
| UniProtKB:F1R0J8 | InterPro | 496 |
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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 | Fosmid | CH1073-288B16 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:66110 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:85977 | ||
| Encodes | cDNA | MGC:174504 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200560 (1) | 1854 nt | ||
| Genomic | GenBank:CU633770 (2) | 35489 nt | ||
| Polypeptide | UniProtKB:F1R0J8 (1) | 496 aa |
- 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
- Mueller, R.L., Huang, C., and Ho, R.K. (2010) Spatio-temporal regulation of Wnt and retinoic acid signaling by tbx16/spadetail during zebrafish mesoderm differentiation. BMC Genomics. 11:492
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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