IMPDH1 - inosine monophosphate dehydrogenase 1 Gene

Also Known as IMPD; RP10; IMPD1; LCA11; IMPDH-I; sWSS2608

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3614

About IMPDH1

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:128,392,277-128,409,982 (from NCBI)

This gene has 18 transcripts (splice variants), 272 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 19.1), appendix (RPKM 15.8) and 24 other tissues.

Summary

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]

IMPDH1 Products (8)

mRNA	Protein	Name
NM_000883.4	NP_000874.2	inosine-5'-monophosphate dehydrogenase 1 isoform a
NM_001102605.2	NP_001096075.1	inosine-5'-monophosphate dehydrogenase 1 isoform c
NM_001142573.2	NP_001136045.1	inosine-5'-monophosphate dehydrogenase 1 isoform e
NM_001142574.2	NP_001136046.1	inosine-5'-monophosphate dehydrogenase 1 isoform f
NM_001142575.2	NP_001136047.1	inosine-5'-monophosphate dehydrogenase 1 isoform g
NM_001142576.2	NP_001136048.1	inosine-5'-monophosphate dehydrogenase 1 isoform d
NM_001304521.2	NP_001291450.1	inosine-5'-monophosphate dehydrogenase 1 isoform h
NM_183243.3	NP_899066.1	inosine-5'-monophosphate dehydrogenase 1 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	14766016	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables nucleic acid binding	IDA IDA: Inferred from direct assay	14766016	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14766016	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14766016	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IMPDH1 Protein Structure

IMPDH

CBS

0
100
200
300
400
513 a.a.

Protein Preferred Names	Protein Names
inosine-5'-monophosphate dehydrogenase 1	IMP (inosine 5'-monophosphate) dehydrogenase 1

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 11	LCA11 Leber Congenital Amaurosis, Type 11
Retinitis Pigmentosa 10	RP10 Retinitis Pigmentosa-10 Retinitis Pigmentosa, Type 10
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinitis
Retinitis Pigmentosa 88	RP88 Retinitis Pigmentosa, Type 88
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa 9	RP9 Retinitis Pigmentosa-9 Retinitis Pigmentosa, Type 9
Osteopetrosis, Autosomal Recessive 1	OPTB1 Autosomal Recessive Osteopetrosis 1 Autosomal Recessive Albers-Schonberg Disease Infantile Malignant Osteopetrosis Osteopetrosis, Infantile Malignant 1 Marble Bones, Autosomal Recessive Albers-Schonberg Disease, Autosomal Recessive Infantile Malignant Osteopetrosis 1 Osteopetrosis Autosomal Recessive 1 Autosomal Recessive Osteopetrosis Type 1 Marble Bones Autosomal Recessive Osteopetrosis Infantile Malignant 1 Osteopetrosis, Autosomal Recessive, Type 1
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Osteopetrosis, Autosomal Recessive 7	OPTB7 Autosomal Recessive Osteopetrosis 7 Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Autosomal Recessive Osteopetrosis Type 7 Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Osteopetrosis-Hypogammaglobulinemia Syndrome Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia Osteopetrosis Autosomal Recessive 7 Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia Osteopetrosis, Autosomal Recessive, Type 7
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Osteopetrosis, Autosomal Recessive 4	Autosomal Recessive Osteopetrosis 4 OPTB4 Infantile Malignant Osteopetrosis 2 Osteopetrosis, Infantile Malignant 2 Osteopetrosis, Autosomal Recessive, Type 4
Retinitis Pigmentosa 63	RP63
Osteopetrosis, Autosomal Recessive 5	OPTB5 Autosomal Recessive Osteopetrosis 5 Infantile Malignant Osteopetrosis 3 Osteopetrosis, Infantile Malignant 3 Osteopetrosis Autosomal Recessive 5 Osteopetrosis And Infantile Neuroaxonal Dystrophy Autosomal Recessive Osteopetrosis Type 5 Osteopetrosis Infantile Malignant 3 Osteopetrosis, Autosomal Recessive, Type 5
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Retinal Degeneration	Degeneration Of Retina
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Pseudoretinitis Pigmentosa	Secondary Pigmentary Retinal Degeneration Secondary Pigmentary Degeneration Of Retina
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Leber Congenital Amaurosis 15	LCA15 Leber Congenital Amaurosis, Type 15
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Eye Degenerative Disease
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-118917	VX-148	Inhibitor	/	Unkown
HY-147342	β-Benzamide adenine dinucleotide	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	IMPDH1	MGD	MGI:96567
Bos taurus	IMPDH1	VGNC	VGNC:30188
Felis catus	IMPDH1	VGNC	VGNC:67797
Rattus norvegicus	IMPDH1	RGD	RGD:1311108
Canis familiaris	IMPDH1	VGNC	VGNC:42010
Macaca mulatta	IMPDH1	VGNC	VGNC:81333
Others	IMPDH1	NCBI