IMPDH1 Gene
protein-coding GIFtS: 68
GCID: GC07M128032
|
|
IMP (inosine 5'-monophosphate) dehydrogenase 1(Previous names: retinitis pigmentosa 10 (autosomal dominant), IMP (inosine...)
(Previous symbol: RP10)
| |
Aliases
for IMPDH1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| IMP (Inosine 5'-Monophosphate) Dehydrogenase 11 2 | | IMP Dehydrogenase 12 3 | | LCA111 2 5 | | IMPD 12 3 | | RP101 2 5 | | IMPDH 12 3 | | IMP (Inosine Monophosphate) Dehydrogenase 11 2 | | EC 1.1.1.2053 8 | | SWSS26081 | | Retinitis Pigmentosa 10 (Autosomal Dominant)1 | | IMPD12 3 | | IMPD2 | | IMPDH-I2 3 | | Inosine-5'-Monophosphate Dehydrogenase 12 |
Export aliases for IMPDH1 gene to outside databasesPrevious GC identifers: GC07M126509 GC07M127572 GC07M127586 GC07M127626 GC07M127819 GC07M122393 |
Summaries
for IMPDH1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for IMPDH1:
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme thatcatalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limitingstep in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10(RP10). Several transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,Dec 2008)
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839Function: Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committedand rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in theregulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role inRNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of sometumors
Gene Wiki entry for IMPDH1
|
Genomic Views
for IMPDH1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the IMPDH1 gene promoter:
c-Fos USF1 AP-1 NRF-2 USF-1 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for IMPDH1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IMPDH1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q31.3-q32 Ensembl cytogenetic band: 7q32.1 HGNC cytogenetic band: 7q31.3-q32IMPDH1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M128032: view genomic region
(about GC identifiers)
Start:
|
128,032,331 bp from pter |
End:
|
128,050,306 bp from pter |
Size:
|
17,976 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 127,415,442-127,433,147 |
|
Proteins
for IMPDH1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839 (See
protein sequence)Recommended Name: Inosine-5'-monophosphate dehydrogenase 1 Size: 514 amino acids; 55406 Da
Cofactor: Potassium (By similarity)
Subunit: Homotetramer
Subcellular location: Cytoplasm. Nucleus
Miscellaneous: Because IMPDH activity is tightly linked with cell proliferation, it has been recognized as a target forcancer and viral chemotherapy and as a target for immunosuppressive drugs. The activities of the antitumor drugtiazofurin, the antiviral drug ribavirin, and the immunosuppressive drugs mizoribine and mycophenolic acid (MPA) areattributed to the inhibition of IMPDH. In addition, bacterial and parasitic IMPDH's differ significantly frommammalian enzymes, which makes it a suitable target for anti-infective drugs
1 PDB 3D structure from  and Proteopedia  for IMPDH1:1JCN (3D)
Secondary accessions: A4D0Z7 A6NDW5 B3KNP7 B4DE09 Q8N194 Q96NU2Alternative splicing: 4 isoforms: P20839-1 P20839-2 P20839-3 P20839-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for IMPDH1: NX_P20839
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P20839
4/18 DME Specific Peptides for IMPDH1 (P20839) (see all 18)
IMPDH1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (7 alternative transcripts):
NP_000874.2 NP_001096075.1 NP_001136045.1 NP_001136046.1 NP_001136047.1 NP_001136048.1 NP_899066.1
ENSEMBL proteins: ENSP00000420756 ENSP00000418742 ENSP00000399400 ENSP00000345096 ENSP00000420803 ENSP00000346219 ENSP00000265385 ENSP00000417296 ENSP00000420185 ENSP00000419609 ENSP00000418592 ENSP00000420469 ENSP00000367989 ENSP00000342438 Reactome Protein details: P20839
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
IMPDH1 for ontologies About GeneDecksing
IMPDH1 Antibody Products:
Assay Products for IMPDH1: |
Protein
Domains /
Families
for IMPDH1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IMPDH1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P20839ProtoNet protein and cluster: P20839 2 Blocks protein families: IPB000644 CBS domain IPB001093 IMP dehydrogenase/GMP reductase
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839Similarity: Belongs to the IMPDH/GMPR familySimilarity: Contains 2 CBS domains |
Function
for IMPDH1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839Function: Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committedand rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in theregulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role inRNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of sometumorsCatalytic activity: Inosine 5'-phosphate + NAD(+) + H(2)O = xanthosine 5'-phosphate + NADHEnzyme regulation: Mycophenolic acid (MPA) is a non-competitive inhibitor that prevents formation of the closed enzymeconformation by binding to the same site as the amobile flap. In contrast, mizoribine monophosphate (MZP) is acompetitive inhibitor that induces the closed conformation. MPA is a potent inhibitor of mammalian IMPDHs but a poorinhibitor of the bacterial enzymes. MZP is a more potent inhibitor of bacterial IMPDH. Subject to product inhibitionby XMP and NADH. Also inhibited by ADPBiophysicochemical properties: Kinetic parameters: KM=18 uM for Inosine 5'-phosphate; KM=46 uM for NAD(+);Induction: Constitutively expressed Genatlas biochemistry entry for IMPDH1:inosine 5'-monophosphate dehydrogenase,type I,paralog to IMPDH2
Enzyme Number (IUBMB): EC 1.1.1.2051 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IMPDH1 (see all 9)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IMPDH1 (see all 7)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 7): IMPDH1 (NM_001142573) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IMPDH1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMPDH1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPDH1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
IMPDH1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Impdh1tm1Bmi for IMPDH1
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Impdh1):
IMPDH1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for IMPDH1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Purine metabolism | | | 2 | purine nucleotides de novo biosynthesis II | | | 3 | Metabolism | | | 4 | purine nucleotides degradation II (aerobic) | | | 5 | Nucleotide Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4  BioSystems Pathways for IMPDH1
4 
Reactome Pathways for IMPDH1
2  PharmGKB Pathways for IMPDH1
3 
Kegg Pathways (Kegg details for IMPDH1):
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839Pathway: Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1
IMPDH1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IMPDH1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/58 Interacting proteins for IMPDH1 (ENSP000003450964) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006144 | purine nucleobase metabolic process |
TAS | -- | | GO:0006164 | purine nucleotide biosynthetic process |
-- | -- | | GO:0006177 | GMP biosynthetic process |
IEA | -- | | GO:0009168 | purine ribonucleoside monophosphate biosynthetic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
IMPDH1 for ontologies About GeneDecksing
|
Drugs & Compounds
for IMPDH1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
IMPDH1 for compounds About GeneDecksing
 Browse Tocris compounds for IMPDH1
6 HMDB Compounds for IMPDH1 About this table
5 DrugBank Compounds for IMPDH1 About this table
6 Novoseek chemical compound relationships for IMPDH1 gene About this table
1 PharmGKB related drug/compound annotation for IMPDH1 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about IMPDH1 / IMDH1
|
Transcripts
for IMPDH1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for IMPDH1 gene (7 alternative transcripts): NM_000883.3 NM_001102605.1 NM_001142573.1 NM_001142574.1 NM_001142575.1 NM_001142576.1 NM_183243.2 Unigene Cluster for IMPDH1: IMP (inosine 5'-monophosphate) dehydrogenase 1 Hs.654401 [show with all ESTs]Unigene Representative Sequence: J0527218 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000469328 ENST00000484496 ENST00000419067 ENST00000338791(uc003vmu.2 uc003vmx.2 uc003vmy.2 uc011kon.1 uc003vmv.2)
ENST00000496200(uc011kol.1 uc011kom.1 uc003vmt.2) ENST00000354269(uc003vmw.2)
ENST00000348127 ENST00000470772 ENST00000480861 ENST00000460045 ENST00000497868
ENST00000468842 ENST00000489263 ENST00000496487 ENST00000491376 ENST00000473463
ENST00000378717 ENST00000343214
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IMPDH1 (see all 9)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IMPDH1 (see all 7)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 7): IMPDH1 (NM_001142573) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IMPDH1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMPDH1 |
Additional cDNA sequence: AK054640.1 AK054667.1 AK092452.1 AK122994.1 AK131294.1 AK293413.1 AK297943.1 BC033622.1 CR933672.1 J05272.1 16 DOTS entries: DT.100798716 DT.100798708 DT.100798711 DT.95139757 DT.100798714 DT.121043210 DT.310934 DT.100798718 DT.101983826 DT.92058507 DT.97772614 DT.92057587 DT.100798717 DT.121043186 DT.97764247 DT.100798710 24/177 AceView cDNA sequences (see all 177): CA436096 BP381389 NM_000883 BM702171 BQ001741 CB151695 CR603937 BM723707 AI092933 BU158880 CR609676 CD014008 BC033622 AI392866 BE671418 BU557046 BM700011 BM013617 CB139253 BU543855 BE905444 BU628236 BQ636664 BM561822
GeneLoc Exon Structure
5/16 Alternative Splicing Database (ASD) splice patterns (SP) for IMPDH1 (see all 16) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ |
|---|
|
| SP1: | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | - | | | | |
| SP3: | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP4: | | | | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | - | | | | |
| SP5: | | | | | | | | | | | - | | | | - | | - | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | - | | | |
| ExUns: | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
|---|
|
| SP1: | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for IMPDH1
|
Expression
for IMPDH1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| IMPDH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCGCCTGCC
About this image
See IMPDH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IMPDH1
SOURCE GeneReport for Unigene cluster: Hs.654401
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839Tissue specificity: IMP type I is the main species in normal leukocytes and type II predominates over type I in thetumor
SABiosciences Custom PCR Arrays for IMPDH1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IMPDH1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IMPDH1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IMPDH1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IMPDH1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPDH1 |
Orthologs
for IMPDH1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for IMPDH1 gene from 9/39 species (see all 39) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
IMPDH16 |
-- |
92(a) |
1 ↔ 1 |
GL343799.1(159566-194499) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BC046868.12 |
-- |
77.8(n) |
|
BC046868.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
impdh1a1 |
inosine 5'-phosphate dehydrogenase 1a |
78.59(n)
91.36(a) |
|
431724 NM_001002177.1 NP_001002177.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
ras1 , 3 |
GMP biosynthesis IMP dehydrogenase3
raspberry1 |
68(a)3
67.47(n)1
70.42(a)1 |
|
9E23
438731 NM_167240.11 NP_727441.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
T22D1.31 |
Protein T22D1.3 |
56.85(n)
59.12(a) |
|
177457 NM_001028224.2 NP_001023395.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
(YAR075W)4
IMD41 |
Non-functional protein with homology IMP dehydrogenase; more4
Imd4p1 |
59.05(n)1
63.93(a)1 |
|
1(228844-229317)4
8549481 NP_013656.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G163506AT1G794706 |
inosine-5'-monophosphate dehydrogenase |
47(a)46(a) |
many ↔ manymany ↔ many |
1(5590951-5593007) 1(29894598-29897166) |
rice
(Oryza sativa) |
Liliopsida |
-- |
CBS domain containing membrane protein, putative, ... |
47(a) |
1 → many |
3(32358614-32364146) |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
guaB6 |
IMP dehydrogenase |
39(a) |
possible ortholog |
Chromosome(2630626-2632092) |
ENSEMBL Gene Tree for IMPDH1 (if available)
TreeFam Gene Tree for IMPDH1 (if available) |
Paralogs
for IMPDH1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for IMPDH1 gene
- GMPR22 GMPR2 IMPDH22
4 SIMAP similar genes for IMPDH1 using alignment to 12 protein entries: IMDH1_HUMAN (see all proteins):IMPDH DKFZp781N0678 IMPDH2 GMPR2
IMPDH1 for paralogs About GeneDecksing
5/10 Pseudogenes.org Pseudogenes for IMPDH1 (see all 10)
PGOHUM00000238546 PGOHUM00000248981 PGOHUM00000240456 PGOHUM00000237952 PGOHUM00000243070
|
Genomic Variants
for IMPDH1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for IMPDH1 (128032331 - 128050306 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for IMPDH1
4 CNVs: 52081 100115 52080 4558
Human Gene Mutation Database (HGMD): IMPDH1
Locus Specific Mutation Databases (LSDB): IMPDH1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IMPDH1 |
|
Disorders
/ Diseases
for IMPDH1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
IMPDH1 for disorders About GeneDecksing
OMIM gene information: 146690
OMIM disorders: 180105
UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839
Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10) [MIM:180105]. RP leads to degenerationof retinal photoreceptor cells. 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. RP10inheritance is autosomal dominant Defects in IMPDH1 are the cause of Leber congenital amaurosis type 11 (LCA11) [MIM:613837]. LCA11 is a severedystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor andoften accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia andkeratoconus
16  diseases for IMPDH1: About MalaCardsretinitis pigmentosa retinitis pigmentosa-10 retinitis leber congenital amaurosis
leber congenital amaurosis 11 retinal degeneration hyperopia nystagmus
keratoconus retinal disease neurodegeneration blindness
pneumonia tuberculosis malaria mycobacterium tuberculosis
2 diseases from the University of Copenhagen DISEASES database for IMPDH1:Retinitis pigmentosa Leber congenital amaurosis 4 Novoseek disease relationships for IMPDH1 gene About this table
GeneTests: IMPDH1
Leber Congenital Amaurosis
Genetic Association Database (GAD): IMPDH1
Human Genome Epidemiology (HuGE) Navigator: IMPDH1 (14 documents)
Export disorders for IMPDH1 gene to outside databases
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Publications
for IMPDH1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for IMPDH1 gene, integrated from 9 sources (see all 83):
(articles sorted by number of sources associating them with IMPDH1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. (PubMed id 16384941)1, 2, 7, 9 Bowne S.J....Daiger S.P. (2006)
- Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. (PubMed id 11875050)1, 2, 3, 9 Bowne S.J.... Daiger S.P. (2002)
- Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. (PubMed id 11875049)1, 2, 3, 9 Kennan A.... Humphries P. (2002)
- Two distinct cDNAs for human IMP dehydrogenase. (PubMed id 1969416)1, 2, 3 Natsumeda Y.... Suzuki K. (1990)
- IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients. (PubMed id 17851563)1, 7, 9 Wang J....Burckart G.J. (2008)
- Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. (PubMed id 16038673)1, 4, 9 Wada Y....Tamai M. (2005)
- Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. (PubMed id 15851576)1, 4, 9 Wada Y....Dryja T.P. (2005)
- Expression of inosine monophosphate dehydrogenase type I and type II after mycophenolate mofetil treatment: a 2-year follow-up in kidney transplantation. (PubMed id 17713475)1, 7, 9 Sanquer S....Lang P. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Inosine 5'-monophosphate dehydrogenase binds nucleic acids in vitro and in vivo. (PubMed id 14766016)1, 2 McLean J.E....Hedstrom L. (2004)
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External Searches for IMPDH1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing IMPDH1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing IMPDH1 gene
(According to HUGE)
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Specialized Databases showing IMPDH1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for IMPDH1 | Pharmacogenomics, SNPs, Pathways | | Mutations of the IMPDH1 gene | http://www.retina-international.org/files/sci-news/impdhmut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IMPDH1 |
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| Patent Information for IMPDH1 gene:
Search GeneIP for patents involving IMPDH1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for IMPDH1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for IMPDH1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IMPDH1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IMPDH1 | | | OriGene Protein Over-expression Lysate for IMPDH1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for IMPDH1 | | OriGene 3'-UTR Clone for IMPDH1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IMPDH1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IMPDH1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for IMPDH1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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