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 have IMP dehydrogenase activity. Involved in developmental pigmentation and eye development. Predicted to localize to 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
Expression
All Expression Data
8 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Li et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With impdh1a Human Ortholog
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
Associated With impdh1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR015875 IMP dehydrogenase / GMP reductase, conserved site
Domain IPR000644 CBS domain
Domain IPR001093 IMP dehydrogenase/GMP reductase
Family IPR005990 Inosine-5'-monophosphate dehydrogenase
Homologous_superfamily IPR013785 Aldolase-type TIM barrel
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:F1QLN9 87
UniProtKB:A0A2R8QBA9 529
UniProtKB:Q1LY41 534
UniProtKB:Q1LY40 78
UniProtKB:Q6GMG5 544
UniProtKB:F1QU25 179
UniProtKB:B2GRR5 544
UniProtKB:A0A2R8Q8K1 543
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations