Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:biologicalProcess |
oxidoreductase activity
purine nucleotide biosynthetic process |
| gptkbp:cellularComponent |
gptkb:cytoplasm
|
| gptkbp:encodedBy |
gptkb:IMPDH1_gene
|
| gptkbp:Entrez_Gene_ID |
3614
|
| gptkbp:enzymeCommissionNumber |
gptkb:EC_1.1.1.205
|
| gptkbp:expressedIn |
gptkb:kidney
retina liver |
| gptkbp:fullName |
Inosine-5'-monophosphate dehydrogenase 1
|
| gptkbp:function |
catalyzes conversion of IMP to XMP
|
| gptkbp:HGNC_ID |
HGNC:6053
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
| gptkbp:mutationAssociatedWith |
causes Leber congenital amaurosis
causes autosomal dominant retinitis pigmentosa |
| gptkbp:OMIM |
146690
|
| gptkbp:orthologInMouse |
Impdh1
Impdhl |
| gptkbp:UniProtID |
ODH1_HUMAN
|
| gptkbp:bfsParent |
gptkb:IMPDH
gptkb:IMPDH_family gptkb:inosine-5'-monophosphate_dehydrogenase_1 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
IMPDH1
|