Gene
pdha1b
- ID
- ZDB-GENE-040718-96
- Name
- pyruvate dehydrogenase E1 subunit alpha 1b
- Symbol
- pdha1b Nomenclature History
- Previous Names
-
- fp73b04
- wu:fp73b04
- zgc:92705 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. Predicted to be located in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency and spermatogenic failure. Orthologous to several human genes including PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1).
- 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:92705 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pyruvate decarboxylase deficiency | Alliance | Pyruvate dehydrogenase E1-alpha deficiency | 312170 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Dehydrogenase, E1 component | Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y | Pyruvate Dehydrogenase E1 Alpha Subunit | Thiamin diphosphate-binding fold |
|---|---|---|---|---|---|
|
UniProtKB:E7F9W7
|
400 | ||||
|
UniProtKB:Q6DGZ9
|
393 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pdha1b-201
(1)
|
Ensembl | 1,712 nt | ||
| mRNA |
pdha1b-202
(1)
|
Ensembl | 2,432 nt | ||
| mRNA |
pdha1b-203
(1)
|
Ensembl | 543 nt |
Interactions and Pathways
No data available
Plasmids
No data available