• Gene id: 3614

Gene Summary

• Gene Symbol: IMPDH1   Gene   UCSC   Ensembl
• Aliases: IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608
• Gene name: inosine monophosphate dehydrogenase 1
• Alternate names: inosine-5'-monophosphate dehydrogenase 1, IMP (inosine 5'-monophosphate) dehydrogenase 1, IMP (inosine monophosphate) dehydrogenase 1, IMPD 1, IMPDH 1,
• Gene location: 7q32.1 (128409988: 128392276)     Exons: 18     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 300738

Protein Summary

• Protein general information: P20839  
  • Name: Inosine 5' monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPD 1) (IMPDH 1) (EC 1.1.1.205) (IMPDH I)
  • Length: 514  
  • Mass: 55406
  • Tissue specificity: IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.
• Sequence:

  MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTE
  ADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTM
  GSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIART
  DLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVI
  GGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVK
  ALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDK
  GSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY

• Structural information:
  • Protein Domains: (114..17-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03156-)
    (179..23-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03156"-)
  • Interpro: IPR013785  IPR000644  IPR005990  IPR015875  IPR001093  
  • Prosite: PS51371 PS00487
  • CDD: cd00381
  • PDB: 1JCN
  • PDBsum: 1JCN
  • DIP: 60163
  • STRING: ENSP00000345096
• Other Databases: GeneCards:  IMPDH1  Malacards:  IMPDH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003938	IMP dehydrogenase activity	IBA	molecular function
GO:0006183	GTP biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0003938	IMP dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006177	GMP biosynthetic process	IEA	biological process
GO:0003938	IMP dehydrogenase activity	TAS	molecular function
GO:0003938	IMP dehydrogenase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0046651	lymphocyte proliferation	IEA	biological process
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0003938	IMP dehydrogenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003938	IMP dehydrogenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006177	GMP biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003676	nucleic acid binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	PMID:11875050
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881