IMPDH1 (inosine monophosphate dehydrogenase 1)

2006-10-01 Affiliation

Identity

HGNC

IMPDH1

LOCATION

7q32.1

LOCUSID

3614

ALIAS

IMPD,IMPD1,IMPDH-I,LCA11,RP10,sWSS2608

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3614
MIM: 146690
HGNC: 6052
Ensembl: ENSG00000106348

Variants:

dbSNP: 3614
ClinVar: 3614
TCGA: ENSG00000106348
COSMIC: IMPDH1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000106348	ENST00000338791	P20839
ENSG00000106348	ENST00000348127	P20839
ENSG00000106348	ENST00000354269	P20839
ENSG00000106348	ENST00000419067	P20839
ENSG00000106348	ENST00000469328	H7C5T1
ENSG00000106348	ENST00000470772	C9J381
ENSG00000106348	ENST00000473463	F8WDE9
ENSG00000106348	ENST00000480861	P20839
ENSG00000106348	ENST00000484496	H7C511
ENSG00000106348	ENST00000489263	C9J029
ENSG00000106348	ENST00000496200	P20839
ENSG00000106348	ENST00000497868	C9K0R9
ENSG00000106348	ENST00000626419	C9J381
ENSG00000106348	ENST00000648462	A0A3B3IRL5

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Drug metabolism - other enzymes	KEGG	ko00983
Purine metabolism	KEGG	hsa00230
Drug metabolism - other enzymes	KEGG	hsa00983
Metabolic pathways	KEGG	hsa01100
Guanine ribonucleotide biosynthesis IMP => GDP,GTP	KEGG	M00050
Guanine ribonucleotide biosynthesis IMP => GDP,GTP	KEGG	hsa_M00050
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Purine metabolism	REACTOME	R-HSA-73847
Purine ribonucleoside monophosphate biosynthesis	REACTOME	R-HSA-73817
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA133888799	Organ Transplantation	Disease	ClinicalAnnotation	associated	PD	17851563, 20136638, 20649757, 20679962, 21142914, 22960765
PA164748728	mycophenolic acid	Chemical	Pathway	associated		24220207
PA165817016	Kidney Transplantation	Disease	ClinicalAnnotation	associated	PD	17851563, 20136638, 20679962, 21142914, 22960765
PA444773	Leukopenia	Disease	ClinicalAnnotation	associated	PD	20679962, 21142914
PA450566	mycophenolate mofetil	Chemical	ClinicalAnnotation	associated	PD	17851563, 20136638, 20649757, 20679962, 21142914, 22960765

References

Pubmed ID	Year	Title	Citations
11875050	2002	Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.	63
16384941	2006	Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.	52
11875049	2002	Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.	41
17851563	2008	IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients.	26
18974094	2008	IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA.	20
16936083	2006	Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?	17
15851576	2005	Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.	12
22301190	2012	A p53-inducible microRNA-34a downregulates Ras signaling by targeting IMPDH.	12
20061166	2010	Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.	11
20061166	2010	Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.	11

Citation

Dessen P

IMPDH1 (inosine monophosphate dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43316/impdh1