Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | IMPDH1 | contributors: mct/pgu - updated : 14-03-2015 |
HGNC name | IMP (inosine monophosphate) dehydrogenase 1 |
HGNC id | 6052 |
|
DNA |
TYPE | functioning gene |
STRUCTURE | 17.70 kb 15 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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text | the predominant transcripts in human retina are the result of alternate splicing and alternate start sites of translation, significantly different from those of other tissues and encoding distinct proteins |
EXPRESSION |
Type | widely |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | fetal |
Text | liver |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| two CBS forming a stable globular domain |
mono polymer | homomer , tetramer |
HOMOLOGY |
intraspecies | paralog to IMPDH2 |
Homologene |
FAMILY | IMPDH/GMPR family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,cytosolic | |
intracellular,nucleus | |
text | |
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basic FUNCTION | |
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CELLULAR PROCESS | cell life, proliferation/growth |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | purine/pyrimidine |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein | associated with polyribosomes containing rhodopsin mRNA |
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cell & other |
REGULATION |
activated by | TH |
inhibited by | 17-AAG that is a potent inhibitor of mutant IMPDH1-induced apoptosis ( | |
ASSOCIATED DISORDERS |
corresponding disease(s) | RP10 , LCA11 |
Other morbid association(s) |
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Susceptibility |
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Variant & Polymorphism SNP | increasing the risk of resistance to immunosuppressive drug, mycophenolic acid (MPA)( |
Candidate gene | ||
Marker
Therapy target
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ANIMAL & CELL MODELS |