IMPDH1 Gene Summary [Human]
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | IMPDH1 |
| Official Name | inosine monophosphate dehydrogenase 1 [Source:HGNC Symbol;Acc:HGNC:6052] |
| Ensembl ID | ENSG00000106348 |
| Bio databases IDs | |
| Aliases | inosine monophosphate dehydrogenase 1 |
| Synonyms | B930086D20Rik, IMPD, IMPD 1, IMPDH-I, inosine monophosphate dehydrogenase 1, LCA11, RP10, sWSS2608, Tcbp/imdh1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IMPDH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CBS_pair_SF
- Domain in cystathionine beta-synthase and other proteins
- IMP dehydrogenase
- nucleic acid binding
- TIM-like beta/alpha barrel domains
- CBS domain
- IMP dehydrogenase / GMP reductase domain
- enzyme
- protein binding
- identical protein binding
- inosine-5'-monophosphate dehydrogenase
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- type M3 acute myeloid leukemia
- anemia
- HIV infection
- lymphoma
- myelodysplastic syndrome
- plasma cell myeloma
- leukemia
- intermediate uveitis
- panuveitis
role in cell
- proliferation
- activation
- abnormal morphology
- function
- cytotoxicity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- secretory granule lumen
- ficolin-1-rich granule lumen
- azurophil granule lumen
- Extracellular Space
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IMPDH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GTP biosynthetic process
- GMP biosynthetic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- secretory granule lumen
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- nucleic acid binding
- DNA binding
- RNA binding
- metal ion binding
- IMP dehydrogenase activity