Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3614
Gene name Gene Name - the full gene name approved by the HGNC.
Inosine monophosphate dehydrogenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IMPDH1
Synonyms (NCBI Gene) Gene synonyms aliases
IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez 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 no
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121912550 C>T Pathogenic Missense variant, coding sequence variant
rs121912551 C>T Pathogenic Missense variant, coding sequence variant
rs121912552 C>G,T Pathogenic Missense variant, coding sequence variant
rs121912553 G>A Benign, pathogenic Missense variant, intron variant, coding sequence variant
rs121912554 A>C,G Pathogenic Missense variant, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003737 hsa-miR-29a-3p Luciferase reporter assay 17724173
MIRT024021 hsa-miR-1-3p Proteomics 18668040
MIRT025513 hsa-miR-34a-5p Proteomics 21566225
MIRT025513 hsa-miR-34a-5p Proteomics 21566225
MIRT027238 hsa-miR-29b-3p Reporter assay 17724173
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IDA 14766016
GO:0003677 Function DNA binding IDA 14766016
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
146690 6052 ENSG00000106348
Protein
UniProt ID P20839
Protein name Inosine-5'-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPD 1) (IMPDH 1) (EC 1.1.1.205) (IMPDH-I)
Protein 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
PDB 1JCN , 7RER , 7RES , 7RFE , 7RFF , 7RFG , 7RFH , 7RFI , 7RGD , 7RGI , 7RGL , 7RGM , 7RGQ , 8U7M , 8U7Q , 8U7V , 8U8O , 8U8Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00478 IMPDH 29 504 IMP dehydrogenase / GMP reductase domain Domain
PF00571 CBS 107 166 CBS domain Domain
PF00571 CBS 175 232 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.
Sequence
MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKIT
LKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRK
VKKFEQGFITDPVV
LSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFL
AEKDHTTLLSEVMT
PRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTDLKKNRD
YPLASKDS
QKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVI
GGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVP
IIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAM
EKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLR
SMMYSGELKFEKRTMSAQIEGGVH
GLHSYEKRLY
Sequence length 514
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
  Neutrophil degranulation
Purine ribonucleoside monophosphate biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leber Congenital Amaurosis leber congenital amaurosis 11 rs121912554, rs1057518949 N/A
retinal dystrophy Retinal dystrophy rs1798216037, rs121912550, rs121912552 N/A
Retinitis Pigmentosa retinitis pigmentosa 10, retinitis pigmentosa rs886037911, rs1057518949, rs1562998089, rs1584728115, rs1238921380, rs121912550, rs121912552 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pelvic Organ Prolapse Pelvic organ prolapse N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 22952885
Carcinoma Hepatocellular Associate 36494680, 36524514, 36618420
Carcinoma Renal Cell Associate 33221754
Cardiomyopathy Dilated Associate 36401332
Color Vision Defects Associate 16214101
Colorectal Neoplasms Associate 35114976
Cyclic neutropenia Associate 20679962
Diabetes Mellitus Associate 23666569
Drug Related Side Effects and Adverse Reactions Associate 30927276
Graft vs Host Disease Associate 21745452