Gene
impdh1a
- ID
- ZDB-GENE-040704-15
- Name
- IMP (inosine 5'-monophosphate) dehydrogenase 1a
- Symbol
- impdh1a Nomenclature History
- Previous Names
-
- zgc:91911
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable IMP dehydrogenase activity. Acts upstream of or within developmental pigmentation and eye development. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in brain; digestive system; heart; muscle; and sensory system. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 11; retinitis pigmentosa; and retinitis pigmentosa 10. Orthologous to human IMPDH1 (inosine monophosphate dehydrogenase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 12 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:91911 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Leber congenital amaurosis 11 | Alliance | Leber congenital amaurosis 11 | 613837 |
retinitis pigmentosa 10 | Alliance | Retinitis pigmentosa 10 | 180105 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Aldolase-type TIM barrel | CBS domain | IMP dehydrogenase/GMP reductase | IMP dehydrogenase / GMP reductase, conserved site | Inosine-5'-monophosphate dehydrogenase |
---|---|---|---|---|---|---|
UniProtKB:B2GRR5
|
544 | |||||
UniProtKB:A0A8M2B5Y5
|
624 | |||||
UniProtKB:A0A8M3ART7
|
564 | |||||
UniProtKB:Q6GMG5
|
544 | |||||
UniProtKB:A0A8M2B5K3
|
594 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
impdh1a-201
(1)
|
Ensembl | 2,691 nt | ||
mRNA |
impdh1a-202
(1)
|
Ensembl | 260 nt | ||
mRNA |
impdh1a-203
(1)
|
Ensembl | 784 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-impdh2 | polyclonal | IgG | Rabbit |
|
Proteintech
|
1 | |
Ab1-impdh1a | polyclonal | Rabbit |
|
2 | |||
Ab2-impdh1a | polyclonal | Rabbit |
|
2 |
Plasmids
No data available