IMPDH1 - inosine monophosphate dehydrogenase 1 Gene

Homo sapiens

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

Gene ID: 3614 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114570	Tiazofurin	Inhibitor	99.84%	Unkown
HY-169296	IMPDH2-IN-4		/	Unkown
HY-RS06798	IMPDH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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