IMPDH1
entrez
3614
canonical
uniprot
P20839
canonical
ensembl
ENSG00000106348
resolver
ensp
ENSP00000265385
resolver
ensp
ENSP00000345096
resolver
ensp
ENSP00000346219
resolver
ensp
ENSP00000399400
resolver
ensp
ENSP00000417296
resolver
ensp
ENSP00000420185
resolver
ensp
ENSP00000420803
resolver
ensp
ENSP00000496892
resolver
ensp
ENSP00000625385
resolver
ensp
ENSP00000678239
resolver
ensp
ENSP00000712497
resolver
ensp
ENSP00000712507
resolver
genesymbol
IMPDH1
resolver
genesymbol_syn
IMPD1
resolver
hgnc
HGNC:6052
resolver
uniprot
A4D0Z6
resolver
uniprot
A4D0Z7
resolver
uniprot
A6NDW5
resolver
uniprot
A6NNI6
resolver
uniprot
B3KNP7
resolver
uniprot
B3KVM8
resolver
uniprot
B4DE09
resolver
uniprot
C9JV30
resolver
uniprot
J3KNX8
resolver
uniprot
Q8N194
resolver
uniprot
Q96NU2
resolver
uniprot_entry
IMDH1_HUMAN
resolver
uniprot_sec
A4D0Z6
resolver
uniprot_sec
A4D0Z7
resolver
uniprot_sec
A6NDW5
resolver
uniprot_sec
A6NNI6
resolver
uniprot_sec
B3KNP7
resolver
uniprot_sec
B3KVM8
resolver
uniprot_sec
B4DE09
resolver
uniprot_sec
C9JV30
resolver
uniprot_sec
J3KNX8
resolver
uniprot_sec
Q8N194
resolver
uniprot_sec
Q96NU2
resolver
activity_regulation
ACTIVITY REGULATION: Mycophenolic acid (MPA) is a non-competitive inhibitor that prevents formation of the closed enzyme conformation by binding to the same site as the amobile flap. In contrast, mizoribine monophosphate (MZP) is a competitive inhibitor that induces the closed conformation. MPA is a potent inhibitor of mammalian IMPDHs but a poor inhibitor of the bacterial enzymes. MZP is a more potent inhibitor of bacterial IMPDH. Subject to product inhibition by XMP and NADH. Also inhibited by ADP. {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:7903306}.
uniprot
proteins
amino_acid_sequence
MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTDLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11875049, ECO:0000269|PubMed:11875050, ECO:0000269|PubMed:16384941}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:16384941}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.205
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
55406
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1. {ECO:0000255|HAMAP-Rule:MF_03156}.
uniprot
proteins
protein_family
IMPDH/GMPR family
uniprot
proteins
pubmed
11875049
uniprot
proteins
pubmed
11875050
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14766016
uniprot
proteins
pubmed
15028279
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16384941
uniprot
proteins
pubmed
1969416
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
7763314
uniprot
proteins
pubmed
7903306
uniprot
proteins
sequence_length
514
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:14766016}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:14766016}.
uniprot
proteins