|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:IMPDH
gptkb:IMPDH_type_I
gptkb:retinitis_pigmentosa_10_protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa
|
|
gptkbp:biologicalProcess
|
purine nucleotide biosynthetic process
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:encodes
|
gptkb:inosine-5'-monophosphate_dehydrogenase_1
|
|
gptkbp:Entrez_Gene_ID
|
3614
|
|
gptkbp:enzymeCommissionNumber
|
gptkb:EC_1.1.1.205
|
|
gptkbp:expressedIn
|
retina
|
|
gptkbp:function
|
catalyzes conversion of IMP to XMP
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6054
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IMPDH1 gene
|
|
gptkbp:length
|
514 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7q32.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autosomal_dominant_retinitis_pigmentosa
gptkb:autosomal_recessive_Leber_congenital_amaurosis
|
|
gptkbp:OMIM
|
146690
|
|
gptkbp:orthologInMouse
|
gptkb:Impd1
|
|
gptkbp:orthologInZebrafish
|
gptkb:impdh1a
gptkb:impdh1b
|
|
gptkbp:proteinFamily
|
gptkb:IMPDH_family
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
gptkb:Q01543
|
|
gptkbp:bfsParent
|
gptkb:Leber_congenital_amaurosis
|
|
gptkbp:bfsLayer
|
6
|