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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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IMPDH1
inosine monophosphate dehydrogenase 1
Chromosome 7 Β· 7q32.1
NCBI Gene: 3614Ensembl: ENSG00000106348.20HGNC: HGNC:6052UniProt: P20839
106PubMed Papers
22Diseases
9Drugs
37Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmnucleuscytosolDNA bindingretinitis pigmentosaretinitis pigmentosa 10chronic hepatitis C virus infectionhepatitis C virus infection
✦AI Summary

IMPDH1 catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), representing the first committed and rate-limiting step in de novo guanine nucleotide synthesis 1. This enzyme plays a critical role in regulating cell growth through GTP biosynthesis and is subject to complex allosteric regulation and feedback inhibition by GTP 1. In retinal tissue, IMPDH1 exists as tissue-specific splice variants that assemble into micron-scale filaments, which enhance nucleotide production by desensitizing the enzyme to GTP inhibition 1. Phosphorylation at residue S477 in the dark acts as a mechanism to downregulate retinal GTP synthesis by modulating filament assembly 1. IMPDH1 enzymatic activity is further regulated through post-translational modifications, including SIRT5-mediated desuccinylation, which enhances activity and promotes tumor cell proliferation 2. Mutations in IMPDH1 cause autosomal dominant retinitis pigmentosa (RP10) and Leber congenital amaurosis 11, with early macular involvement typically appearing in the first decade of life 3. In cancer biology, IMPDH1-dependent purine biosynthesis represents a metabolic vulnerability in specific tumor subtypes, including ASCL1Low small cell lung cancer and high-risk head and neck squamous cell carcinoma 45. IMPDH inhibition effectively suppresses cancer cell proliferation and represents a potential therapeutic target in purine metabolism-dependent malignancies.

Sources cited
1
IMPDH1 is the rate-limiting enzyme in GTP synthesis, assembles into filaments that regulate activity, and is controlled by phosphorylation at S477 in retinal tissue
PMID: 37790411
2
SIRT5-mediated desuccinylation of IMPDH1 increases enzymatic activity and promotes tumor cell proliferation
PMID: 39522945
3
IMPDH1 mutations cause autosomal dominant retinitis pigmentosa (RP10) and Leber congenital amaurosis, with early macular involvement in the first decade of life
PMID: 37259572
4
ASCL1Low small cell lung cancer depends on IMPDH1-mediated guanosine biosynthesis, and IMPDH inhibition selectively suppresses this tumor subtype
PMID: 30043754
5
IMPDH1-mediated purine biosynthesis is enhanced in high-risk head and neck squamous cell carcinoma, and IMPDH inhibitors suppress cell proliferation and metastasis
PMID: 38886346
6
IMPDH1 mutations are identified as rare genetic causes of macular and cone/cone-rod dystrophies
PMID: 29555955
7
IMPDH1 mutations are associated with congenital retinal folds, though the pathogenic mechanism remains unclear
PMID: 39884496
Disease Associationsβ“˜22
retinitis pigmentosaOpen Targets
0.71Strong
retinitis pigmentosa 10Open Targets
0.68Moderate
chronic hepatitis C virus infectionOpen Targets
0.61Moderate
hepatitis C virus infectionOpen Targets
0.60Moderate
cirrhosis of liverOpen Targets
0.59Moderate
Leber congenital amaurosis 11Open Targets
0.59Moderate
Leber congenital amaurosisOpen Targets
0.53Moderate
acute lymphoblastic leukemiaOpen Targets
0.48Moderate
viral diseaseOpen Targets
0.46Moderate
immune system diseaseOpen Targets
0.44Moderate
fibrosisOpen Targets
0.43Moderate
multiple sclerosisOpen Targets
0.43Moderate
Retinal dystrophyOpen Targets
0.42Moderate
leukemiaOpen Targets
0.41Moderate
kidney transplantOpen Targets
0.41Moderate
neoplasmOpen Targets
0.41Moderate
lupus nephritisOpen Targets
0.41Moderate
HIV infectionOpen Targets
0.40Weak
breast cancerOpen Targets
0.39Weak
acute graft vs. host diseaseOpen Targets
0.39Weak
Leber congenital amaurosis 11UniProt
Retinitis pigmentosa 10UniProt
Pathogenic Variants37
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)Pathogenic
Retinitis pigmentosa 10|not provided|Retinal dystrophy|Retinal disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 311
NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg)Pathogenic
not provided|Retinitis pigmentosa 10|Leber congenital amaurosis 11
β˜…β˜…β˜†β˜†2025β†’ Residue 323
NM_000883.4(IMPDH1):c.255-2A>GPathogenic
Retinitis pigmentosa|not provided
β˜…β˜…β˜†β˜†2023
NM_000883.4(IMPDH1):c.1464dup (p.Asp489fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 489
NM_000883.4(IMPDH1):c.849T>A (p.Asn283Lys)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 283
NM_000883.4(IMPDH1):c.72_73insAACCCGG (p.Gln25fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 25
NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)Pathogenic
Retinitis pigmentosa 10
β˜…β˜†β˜†β˜†2024β†’ Residue 314
NM_000883.4(IMPDH1):c.932A>G (p.Asp311Gly)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 311
NM_000883.4(IMPDH1):c.1458_1461dup (p.Ser488fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 488
NM_000883.4(IMPDH1):c.1405+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_000883.4(IMPDH1):c.1048C>T (p.Gln350Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 350
NM_000883.4(IMPDH1):c.1094C>A (p.Ser365Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 365
NM_000883.4(IMPDH1):c.66_72del (p.Ala23fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 23
NM_000883.4(IMPDH1):c.1540C>T (p.Arg514Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 514
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro)Likely pathogenic
Retinitis pigmentosa 10|Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 309
NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 433
NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 433
NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 270
NM_000883.4(IMPDH1):c.946C>T (p.Arg316Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 316
NM_000883.4(IMPDH1):c.146+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Drug Targets9
AVN-944Phase II
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
pancreatic carcinoma
MERIMEPODIBApproved
Inosine-5'-monophosphate dehydrogenase 1 inhibitor
breast cancer
MIZORIBINEApproved
GMP synthase [glutamine-hydrolyzing] inhibitor
MYCOPHENOLATE MOFETILApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
MYCOPHENOLATE MOFETIL HYDROCHLORIDEApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
MYCOPHENOLATE SODIUMApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
MYCOPHENOLIC ACIDApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
RIBAVIRINApproved
Inosine-5'-monophosphate dehydrogenase 1 inhibitor
chronic hepatitis C virus infection
THIOGUANINEApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
acute myeloid leukemia by FAB classification
Related Genes
ENTPD1Protein interaction98%ENTPD6Protein interaction98%ENTPD3Protein interaction98%NT5C2Protein interaction97%NT5CProtein interaction97%NT5MProtein interaction96%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
95%
Ovary
60%
Heart
25%
Brain
17%
Liver
12%
Gene Interaction Network
Click a node to explore
IMPDH1ENTPD1ENTPD6ENTPD3NT5C2NT5CNT5M
PROTEIN STRUCTURE
Preparing viewer…
PDB8U8Y Β· 2.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.46–0.76]
RankingsWhere IMPDH1 stands among ~20K protein-coding genes
  • #4,484of 20,598
    Most Researched106 Β· top quartile
  • #194of 1,025
    FDA-Approved Drug Targets8 Β· top quartile
  • #1,616of 5,498
    Most Pathogenic Variants37
  • #6,129of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedIMPDH1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
PMID: 29555955
Sci Rep Β· 2018
0.90
3
Highly selective inhibition of IMPDH2 provides the basis of antineuroinflammation therapy.
PMID: 28674004
Proc Natl Acad Sci U S A Β· 2017
0.80
4
Light-sensitive phosphorylation regulates enzyme activity and filament assembly of human IMPDH1 retinal splice variants.
PMID: 37790411
bioRxiv Β· 2023
0.70
5
Integrative single-cell and bulk transcriptomes analyses reveals heterogeneity of serine-glycine-one-carbon metabolism with distinct prognoses and therapeutic vulnerabilities in HNSCC.
PMID: 38886346
Int J Oral Sci Β· 2024
0.60