InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IMPDH1

Summary

InnateDB Protein

IDBP-476869.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IMPDH1

Protein Name

IMP (inosine 5'-monophosphate) dehydrogenase 1

Synonyms

IMPD; IMPD1; LCA11; RP10; sWSS2608;

Species

Homo sapiens

Ensembl Protein

ENSP00000420803

InnateDB Gene

IDBG-39659 (IMPDH1)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.

Subcellular Localization

Cytoplasm {ECO:0000255HAMAP-Rule:MF_03156, ECO:0000269PubMed:14766016}. Nucleus {ECO:0000255HAMAP- Rule:MF_03156, ECO:0000269PubMed:14766016}.

Disease Associations

Retinitis pigmentosa 10 (RP10) [MIM:180105]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:11875049, ECO:0000269PubMed:11875050, ECO:0000269PubMed:16384941}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leber congenital amaurosis 11 (LCA11) [MIM:613837]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:16384941}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003723	RNA binding
GO:0003824	catalytic activity
GO:0003938	IMP dehydrogenase activity
GO:0016491	oxidoreductase activity
GO:0018580	nitronate monooxygenase activity
GO:0030554	adenyl nucleotide binding
GO:0046872	metal ion binding

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0006164	purine nucleotide biosynthetic process
GO:0006177	GMP biosynthetic process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000262 FMN-dependent dehydrogenase
IPR000644 CBS domain
IPR001093 IMP dehydrogenase/GMP reductase
IPR004136 2-nitropropane dioxygenase, NPD
IPR005990 Inosine-5\'-monophosphate dehydrogenase

PFAM

PF01070
PF00571
PF00478
PF03060

PRINTS

PIRSF

PIRSF000130

SMART

SM00116

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt