Seroatlas · Human Serome Atlas

IMPDH1

Inosine-5'-monophosphate dehydrogenase 1

Also known as: IMDH1_HUMAN, LCA11, RP10, sWSS2608

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P20839
Gene: IMPDH1
Ensembl: ENSG00000106348
Chromosome: 7
Canonical length: 514 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Cytosol,Rods & Rings
Quaternary structure: Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

514 residues, UniProt reviewed canonical sequence.

>P20839|IMPDH1
     1  MADYLISGGT GYVPEDGLTA QQLFASADGL TYNDFLILPG FIDFIADEVD LTSALTRKIT
    61  LKTPLISSPM DTVTEADMAI AMALMGGIGF IHHNCTPEFQ ANEVRKVKKF EQGFITDPVV
   121  LSPSHTVGDV LEAKMRHGFS GIPITETGTM GSKLVGIVTS RDIDFLAEKD HTTLLSEVMT
   181  PRIELVVAPA GVTLKEANEI LQRSKKGKLP IVNDCDELVA IIARTDLKKN RDYPLASKDS
   241  QKQLLCGAAV GTREDDKYRL DLLTQAGVDV IVLDSSQGNS VYQIAMVHYI KQKYPHLQVI
   301  GGNVVTAAQA KNLIDAGVDG LRVGMGCGSI CITQEVMACG RPQGTAVYKV AEYARRFGVP
   361  IIADGGIQTV GHVVKALALG ASTVMMGSLL AATTEAPGEY FFSDGVRLKK YRGMGSLDAM
   421  EKSSSSQKRY FSEGDKVKIA QGVSGSIQDK GSIQKFVPYL IAGIQHGCQD IGARSLSVLR
   481  SMMYSGELKF EKRTMSAQIE GGVHGLHSYE KRLY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IMPDH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 99 nTPM

Expression across tissuesHPA

Tissue

retina: 99 nTPM
spleen: 53 nTPM
adipose tissue: 51 nTPM
stomach: 46 nTPM
bone marrow: 42 nTPM
breast: 37 nTPM

Single-cell type

neutrophils: 146 nCPM
rod photoreceptor cells: 118 nCPM
retinal bipolar cells: 113 nCPM
cone photoreceptor cells: 89 nCPM
retinal horizontal cells: 74 nCPM
monocytes: 65 nCPM

Immune cell

neutrophil: 198 nTPM
non-classical monocyte: 137 nTPM
intermediate monocyte: 105 nTPM
eosinophil: 89 nTPM
classical monocyte: 89 nTPM
myeloid DC: 60 nTPM

Brain region

medulla oblongata: 42 nTPM
pons: 41 nTPM
thalamus: 30 nTPM
cerebral cortex: 29 nTPM
amygdala: 27 nTPM
midbrain: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IMPDH1.

Disease | AllUniProt

Conditions IMPDH1 is implicated in, by any mechanism.

Retinitis pigmentosa 10 (RP10) MIM:180105
Leber congenital amaurosis 11 (LCA11) MIM:613837

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 703 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 10
Retinal dystrophy
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinal disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.71
gnomAD pLI: 0
gnomAD missense Z: 1.69
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads IMPDH1 as an antibody target. Whether an autoantibody or antibody against IMPDH1 could matter depends on whether native IMPDH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IMPDH1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label IMPDH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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