MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
1.1.1.205	Oxidoreductases; Acting on the CH-OH group of donors; With NAD+ or NADP+ as acceptor; IMP dehydrogenase

Structure

PDB	Resolution (Å)	PDB name
1JCN	2.5	BINARY COMPLEX OF HUMAN TYPE-I INOSINE MONOPHOSPHATE DEHYDROGENASE WITH 6-CL-IMP
7RER	2.6	HUMAN IMPDH1 TREATED WITH ATP, IMP, AND NAD+
7RES	3.05	HUMAN IMPDH1 TREATED WITH ATP, IMP, AND NAD+, OCTAMER-CENTERED
7RFE	2.6	HUMAN IMPDH1 TREATED WITH GTP, IMP, AND NAD+; INTERFACE-CENTERED
7RFF	2.7	HUMAN RETINAL VARIANT IMPDH1(595) TREATED WITH ATP; INTERFACE-CENTERED
7RFG	2.6	HUMAN IMPDH1 TREATED WITH GTP, IMP, AND NAD+ OCTAMER-CENTERED
7RFH	3.7	HUMAN RETINAL VARIANT IMPDH1(595) TREATED WITH ATP, OCTAMER-CENTERED
7RFI	2.6	HUMAN RETINAL VARIANT IMPDH1(595) TREATED WITH GTP, ATP, IMP, NAD+, INTERFACE-CENTERED
7RGD	3.0	HUMAN RETINAL VARIANT IMPDH1(595) TREATED WITH GTP, ATP, IMP, NAD+, OCTAMER-CENTERED
7RGI	3.6	HUMAN RETINAL VARIANT IMPDH1(546) TREATED WITH GTP, ATP, IMP, NAD+; INTERFACE-CENTERED
7RGL	2.4	HUMAN RETINAL VARIANT IMPDH1(546) TREATED WITH ATP, IMP, NAD+, INTERFACE-CENTERED
7RGM	2.8	HUMAN RETINAL VARIANT IMPDH1(546) TREATED WITH ATP, IMP, NAD+, OCTAMER-CENTERED
7RGQ	3.9	HUMAN RETINAL VARIANT IMPDH1(546) TREATED WITH GTP, ATP, IMP, NAD+; INTERFACE-CENTERED

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006177	GMP biosynthetic process
Biological Process	GO:0006183	GTP biosynthetic process
Molecular Function	GO:0003677	DNA binding
Molecular Function	GO:0003938	IMP dehydrogenase activity
Molecular Function	GO:0003723	RNA binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0003676	nucleic acid binding
Molecular Function	GO:0000166	nucleotide binding
Cellular Component	GO:0035578	azurophil granule lumen
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005576	extracellular region
Cellular Component	GO:1904813	ficolin-1-rich granule lumen
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0034774	secretory granule lumen

InterPro / Pfam

InterPro	InterPro name
IPR000644	CBS domain
IPR001093	IMP dehydrogenase/GMP reductase
IPR005990	Inosine-5'-monophosphate dehydrogenase
IPR013785	Aldolase-type TIM barrel
IPR015875	IMP dehydrogenase / GMP reductase, conserved site

Pfam	Pfam name
PF00478	IMP dehydrogenase / GMP reductase domain
PF00571	CBS domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-6798695	Neutrophil degranulation	Leaf	R-HSA-168256	Immune System
R-HSA-73817	Purine ribonucleoside monophosphate biosynthesis	Leaf	R-HSA-1430728	Metabolism
R-HSA-9679191	Potential therapeutics for SARS	Leaf	R-HSA-1643685	Disease
R-HSA-9748787	Azathioprine ADME	Leaf	R-HSA-9748784	Drug ADME

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000255	PubMed:14766016
Nucleus	ECO:0000255	PubMed:14766016

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000035	Abnormal testis morphology
HP:0000135	Hypogonadism
HP:0000365	Hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000543	Optic disc pallor
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0000987	Atypical scarring of skin
HP:0001133	Constriction of peripheral visual field
HP:0001141	Severely reduced visual acuity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001347	Hyperreflexia
HP:0001513	Obesity
HP:0002084	Encephalocele
HP:0002269	Abnormality of neuronal migration
HP:0003593	Infantile onset
HP:0004374	Hemiplegia/hemiparesis
HP:0005978	Type II diabetes mellitus
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007688	Undetectable light- and dark-adapted electroretinogram
HP:0007703	Abnormality of retinal pigmentation
HP:0007737	Bone spicule pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0008046	Abnormal retinal vascular morphology
HP:0008736	Hypoplasia of penis
HP:0011463	Childhood onset
HP:0011504	Bull's eye maculopathy
HP:0012795	Abnormal optic disc morphology
HP:0031609	Geographic atrophy

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Approved
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	Low	Approved
appendix	lymphoid tissue	Medium	Approved
breast	adipocytes	Medium	Approved
breast	glandular cells	Medium	Approved
breast	myoepithelial cells	Medium	Approved
bronchus	respiratory epithelial cells	Medium	Approved
caudate	glial cells	Medium	Approved
caudate	neuronal cells	Medium	Approved
cerebellum	cells in granular layer	Medium	Approved
cerebellum	cells in molecular layer	Medium	Approved
cerebral cortex	endothelial cells	Medium	Approved
cerebral cortex	glial cells	Medium	Approved
cerebral cortex	neuronal cells	Medium	Approved
cervix	glandular cells	Medium	Approved
colon	endothelial cells	Medium	Approved
colon	glandular cells	Medium	Approved
colon	peripheral nerve/ganglion	Low	Approved
duodenum	glandular cells	Medium	Approved
endometrium 1	cells in endometrial stroma	Medium	Approved
endometrium 1	glandular cells	Medium	Approved
endometrium 2	cells in endometrial stroma	Medium	Approved
endometrium 2	glandular cells	Medium	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	Medium	Approved
fallopian tube	glandular cells	Medium	Approved
gallbladder	glandular cells	Low	Approved
heart muscle	cardiomyocytes	Medium	Approved
hippocampus	glial cells	Medium	Approved
hippocampus	neuronal cells	Low	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	Medium	Approved
liver	cholangiocytes	Low	Approved
lung	alveolar cells	Medium	Approved
lung	macrophages	Medium	Approved
lymph node	germinal center cells	Medium	Approved
lymph node	non-germinal center cells	Medium	Approved
nasopharynx	respiratory epithelial cells	Medium	Approved
oral mucosa	squamous epithelial cells	Medium	Approved
ovary	follicle cells	Medium	Approved
ovary	ovarian stroma cells	Medium	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
parathyroid gland	glandular cells	Medium	Approved
placenta	decidual cells	Medium	Approved
placenta	trophoblastic cells	Medium	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	Medium	Approved
salivary gland	glandular cells	Low	Approved
seminal vesicle	glandular cells	Medium	Approved
skin 1	Langerhans	Low	Approved
skin 1	fibroblasts	Low	Approved
skin 1	keratinocytes	Low	Approved
skin 1	melanocytes	Medium	Approved
skin 2	epidermal cells	Medium	Approved
small intestine	glandular cells	Medium	Approved
smooth muscle	smooth muscle cells	Low	Approved
soft tissue 1	fibroblasts	Low	Approved
soft tissue 2	peripheral nerve	Low	Approved
spleen	cells in red pulp	Medium	Approved
spleen	cells in white pulp	Medium	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	pachytene spermatocytes	Low	Approved
testis	spermatogonia cells	High	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	germinal center cells	Medium	Approved
tonsil	non-germinal center cells	Medium	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved
vagina	squamous epithelial cells	Low	Approved

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
retinitis pigmentosa 10	MONDO:0008379	H35	chapter7, Diseases of the eye and adnexa	OMIM:180105
leber congenital amaurosis 11	MONDO:0013454	H35	chapter7, Diseases of the eye and adnexa	OMIM:613837

Summary of P20839

Gene: IMPDH1, IMPD1
Protein: Inosine-5'-monophosphate dehydrogenase 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P20839

Gene: IMPDH1, IMPD1 Protein: Inosine-5'-monophosphate dehydrogenase 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: IMPDH1, IMPD1
Protein: Inosine-5'-monophosphate dehydrogenase 1