IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: IMPDH1provided by HGNC
Official Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 1provided by HGNC
Primary source: HGNC:6052
See related: Ensembl:ENSG00000106348; HPRD:08853; MIM:146690; Vega:OTTHUMG00000157713
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IMPD; RP10; IMPD1; LCA11; sWSS2608
Summary: 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 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]

Genomic context

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Location :: 7q31.3-q32

Sequence :: Chromosome: 7; NC_000007.13 (128032331..128050036, complement)

See IMPDH1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

p53 has a novel function in regulating purine biosynthesis, aided by miR-34a-dependent IMPDH repression.
Title: A p53-inducible microRNA-34a downregulates Ras signaling by targeting IMPDH.
IMPDH has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants.
Title: Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.
IMPDH1 mutation is associated with retinitis pigmentosa.
Title: Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa.
The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the autosomal dominant retinitis pigmentosa cases among Americans of European origin and Europeans.
Title: Mutation frequency of IMPDH1 gene of Han population in Ganzhou City.
resequenced IMPDH1 and IMPDH2 using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identified 73 single nucleotide polymorphisms in IMPDH1, 59 novel
Title: Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics.
Potential associations between the most frequent single nucleotide polymorphisms in both IMPDH genes and clinical outcome in renal transplant recipients.
Title: Polymorphisms in type I and II inosine monophosphate dehydrogenase genes and association with clinical outcome in patients on mycophenolate mofetil.
Inosine 5'-monophosphate dehydrogenase 1 haplotypes have a role in mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients
Title: Inosine 5'-monophosphate dehydrogenase 1 haplotypes and association with mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
The risk of subclinical acute rejection for recipients who cannot adapt in therapeutic drug monitoring of mycophenolic acid seems to be influenced by IMPDH1 rs2278293 polymorphism.
Title: Correlation of IMPDH1 gene polymorphisms with subclinical acute rejection and mycophenolic acid exposure parameters on day 28 after renal transplantation.
In this small sample of pediatric heart transplant patients receiving MMF, ABCC2, IMPDH1 and IMPDH2 SNPs were associated with MMF GI intolerance and bone marrow toxicity.
Title: Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.

Submit: New GeneRIF Correction See all (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.

Diagnosis Testing

The diagnosis of RP relies on documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing. Mutations in more than 50 different genes or loci are known to cause nonsyndromic RP. Molecular genetic testing is available on a clinical basis for many RP- related genes. For all other genes, molecular genetic testing is available on a research basis only.

Genetic Counseling

The mode of inheritance of RP is determined by family history and, in some instances, by molecular genetic testing. RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Females with an X-linked RP mutation may be unaffected or may show clinical symptoms. Such affected females are usually (but not always) less severely affected than males of the same age. Some digenic and mitochondrial forms have also been described. Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing.

References

PMID: 20301590

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:109827	BioGRID:108020	DDX3X	BioGRID	PubMed	Co-fractionation
BioGRID:109827	BioGRID:119246	GMNN	BioGRID	PubMed	Two-hybrid
BioGRID:109827	BioGRID:111635	HTRA1	BioGRID	PubMed	Two-hybrid
BioGRID:109827	BioGRID:109828	IMPDH2	BioGRID	PubMed	Affinity Capture-MS; Co-fractionation
BioGRID:109827	BioGRID:110114	LAMP2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109827	BioGRID:132223	SUMO4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109827	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109827	BioGRID:108822	XRCC6	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Drug metabolism - other enzymes, organism-specific biosystem (from KEGG)
Drug metabolism - other enzymes, organism-specific biosystem
Drug metabolism - other enzymes
Drug metabolism - other enzymes, conserved biosystem (from KEGG)
Drug metabolism - other enzymes, conserved biosystem
Drug metabolism - other enzymes
Guanine ribonucleotide biosynthesis IMP => GDP,GTP, organism-specific biosystem (from KEGG)
Guanine ribonucleotide biosynthesis IMP => GDP,GTP, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Purine metabolism
Guanine ribonucleotide biosynthesis IMP => GDP,GTP, conserved biosystem (from KEGG)
Guanine ribonucleotide biosynthesis IMP => GDP,GTP, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Purine metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
Nucleotide Metabolism, organism-specific biosystem (from WikiPathways)
Nucleotide Metabolism, organism-specific biosystemThe pathway outlined above focuses on purine metabolism and in particular that of guanine metabolism.
Purine metabolism, organism-specific biosystem (from KEGG)
Purine metabolism, organism-specific biosystem
Purine metabolism
Purine metabolism, organism-specific biosystem (from REACTOME)
Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
Purine metabolism, conserved biosystem (from KEGG)
Purine metabolism, conserved biosystem
Purine metabolism
Purine ribonucleoside monophosphate biosynthesis, organism-specific biosystem (from REACTOME)
Purine ribonucleoside monophosphate biosynthesis, organism-specific biosystemThe purine ribonucleotide inosine 5'-monophosphate (IMP) is assembled on 5-phospho-alpha-D-ribose 1-diphosphate (PRPP), with atoms derived from aspartate, glutamine, glycine, N10-formyl-tetrahydrofol...
purine nucleotides de novo biosynthesis II, organism-specific biosystem (from BIOCYC)
purine nucleotides de novo biosynthesis II, organism-specific biosystem
purine nucleotides de novo biosynthesis II
purine nucleotides degradation II (aerobic), organism-specific biosystem (from BIOCYC)
purine nucleotides degradation II (aerobic), organism-specific biosystem
purine nucleotides degradation II (aerobic)
purine nucleotides degradation II (aerobic), conserved biosystem (from BIOCYC)
purine nucleotides degradation II (aerobic), conserved biosystemGeneral Background The pathways of biosynthesis and degradation of mammalian purine and pyrimidine bases, nucleosides and nucleotides were elucidated in the 1950s and 1960s. Much work in the 1970s ...
urate biosynthesis/inosine 5'-phosphate degradation, organism-specific biosystem (from BIOCYC)
urate biosynthesis/inosine 5'-phosphate degradation, organism-specific biosystem
urate biosynthesis/inosine 5'-phosphate degradation
urate biosynthesis/inosine 5'-phosphate degradation, conserved biosystem (from BIOCYC)
urate biosynthesis/inosine 5'-phosphate degradation, conserved biosystemNitrogen is frequently the limiting nutrient for growth of many crop plants. Legumes solved this problem by establishing a symbiotic relationship with bacteria from the genus |FRAME: TAX-374|, which ...

General gene information

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Markers

IMPDH1 (e-PCR)
- UniSTS:57869

D7S480 (e-PCR)
- UniSTS:40507

STS-AA035276 (e-PCR)
- UniSTS:64334

IMPDH1__6462.2 (e-PCR)
- UniSTS:468070

D7S514 (e-PCR), detects polymorphism
- UniSTS:73722

STS-R52542 (e-PCR)
- UniSTS:23546

Genotypes

See IMPDH1 SNP Geneview Report
See IMPDH1 SNP Genotype Report
See IMPDH1 SNP Variation Viewer Report

Related pseudogene(s)

11 found Review record(s) in Gene

Homology

Homologs of the IMPDH1 gene: The IMPDH1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

DKFZp781N0678

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
IMP dehydrogenase activity	IEA Inferred from Electronic Annotation more info
RNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleic acid binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
GMP biosynthetic process	IEA Inferred from Electronic Annotation more info
nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
purine nucleobase metabolic process	TAS Traceable Author Statement more info
purine ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inosine-5'-monophosphate dehydrogenase 1

Names: inosine-5'-monophosphate dehydrogenase 1; IMPD 1; IMPDH 1; IMPDH-I; IMP dehydrogenase 1; IMP (inosine monophosphate) dehydrogenase 1

NP_000874.2

EC 1.1.1.205

NP_001096075.1

EC 1.1.1.205

NP_001136045.1

EC 1.1.1.205

NP_001136046.1

EC 1.1.1.205

NP_001136047.1

EC 1.1.1.205

NP_001136048.1

EC 1.1.1.205

NP_899066.1

EC 1.1.1.205

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009194.1 RefSeqGene

Range

5001..22706

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000883.3 → NP_000874.2 inosine-5'-monophosphate dehydrogenase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK092452, AK122994, CD014010, DA566139, DC326380

Consensus CDS

CCDS34749.1

UniProtKB/TrEMBL

A4D0Z6

UniProtKB/TrEMBL

B3KRZ3

UniProtKB/TrEMBL

B3KVM8

Related

ENSP00000345096, OTTHUMP00000212382, ENST00000338791, OTTHUMT00000349458

Conserved Domains (4) summary

cd04602
Location:200 – 315
Blast Score: 454

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:326 – 567
Blast Score: 890

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:99 – 595
Blast Score: 2008

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:114 – 194
Blast Score: 325

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_001102605.1 → NP_001096075.1 inosine-5'-monophosphate dehydrogenase 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK122994, BC033622, CD014010, DA566139

Consensus CDS

CCDS43643.1

UniProtKB/TrEMBL

B3KVM8

UniProtKB/TrEMBL

J3KNX8

UniProtKB/Swiss-Prot

P20839

Related

ENSP00000346219, OTTHUMP00000212379, ENST00000354269, OTTHUMT00000349454

Conserved Domains (4) summary

cd04602
Location:190 – 305
Blast Score: 456

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:316 – 557
Blast Score: 887

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:89 – 585
Blast Score: 2003

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:104 – 184
Blast Score: 325

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_001142573.1 → NP_001136045.1 inosine-5'-monophosphate dehydrogenase 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AK122994, CD014008, DC299597

UniProtKB/TrEMBL

B3KVM8

UniProtKB/Swiss-Prot

P20839

Conserved Domains (4) summary

cd04602
Location:115 – 230
Blast Score: 450

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:241 – 482
Blast Score: 881

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:14 – 510
Blast Score: 1991

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:29 – 109
Blast Score: 322

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_001142574.1 → NP_001136046.1 inosine-5'-monophosphate dehydrogenase 1 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (f) is shorter at the N-terminus and lacks an internal segment compared to isoform a.

Source sequence(s)

AK122994, AK293413, CD014008, DC299597

Consensus CDS

CCDS55161.1

UniProtKB/TrEMBL

B3KVM8

UniProtKB/Swiss-Prot

P20839

Conserved Domains (4) summary

cd04602
Location:110 – 225
Blast Score: 451

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:236 – 477
Blast Score: 882

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:14 – 505
Blast Score: 1948

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:29 – 103
Blast Score: 296

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_001142575.1 → NP_001136047.1 inosine-5'-monophosphate dehydrogenase 1 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) is shorter at the N-terminus and lacks an internal segment compared to isoform a.

Source sequence(s)

AK054640, AK122994, CD014008, DC299597

Consensus CDS

CCDS47700.1

UniProtKB/TrEMBL

B3KVM8

UniProtKB/Swiss-Prot

P20839

Related

ENSP00000420803, OTTHUMP00000212385, ENST00000496200, OTTHUMT00000349461

Conserved Domains (4) summary

cd04602
Location:90 – 205
Blast Score: 448

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:216 – 457
Blast Score: 878

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:14 – 485
Blast Score: 1847

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:29 – 85
Blast Score: 221

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_001142576.1 → NP_001136048.1 inosine-5'-monophosphate dehydrogenase 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (dz) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC010655, CD014008, DA980797

Consensus CDS

CCDS47699.1

UniProtKB/TrEMBL

C9JV30

Related

ENSP00000399400, OTTHUMP00000212381, ENST00000419067, OTTHUMT00000349456

Conserved Domains (4) summary

cd04602
Location:167 – 282
Blast Score: 452

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:293 – 534
Blast Score: 890

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:86 – 562
Blast Score: 1959

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:86 – 161
Blast Score: 303

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_183243.2 → NP_899066.1 inosine-5'-monophosphate dehydrogenase 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK122994, BC033622, CD014010

Consensus CDS

CCDS34748.1

UniProtKB/TrEMBL

B3KVM8

UniProtKB/Swiss-Prot

P20839

Related

ENSP00000265385, OTTHUMP00000212380, ENST00000348127, OTTHUMT00000349455

Conserved Domains (4) summary

cd04602
Location:164 – 279
Blast Score: 454

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:290 – 531
Blast Score: 885

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

PTZ00314
Location:63 – 559
Blast Score: 2001

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:78 – 158
Blast Score: 324

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

128032331..128050036, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

122393708..122411003, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

127415442..127433147, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

131375656..131393360, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01057673.1 (35282..38704)	None
genomic	ABBA01057674.1	None
genomic	ABBA01057675.1	None
genomic	AC010655.7 (62025..80000)	None
genomic	AMYH01017917.1 (19783..33295)	None
genomic	AMYH01017918.1	None
genomic	CH236947.1	EAL24310.1
		EAL24311.1
genomic	CH471070.1	EAW83649.1
		EAW83650.1
		EAW83651.1
		EAW83652.1
		EAW83653.1
mRNA	AK054640.1	BAB70780.1
mRNA	AK054667.1	BAG51409.1
mRNA	AK092452.1	BAG52555.1
mRNA	AK122994.1	BAG53840.1
mRNA	AK131294.1	BAD18464.1
mRNA	AK293413.1	BAG56920.1
mRNA	AK297943.1	BAG60259.1
mRNA	BC033622.1	AAH33622.2
mRNA	BX406207.2	None
mRNA	CD014008.1	None
mRNA	CD014010.1	None
mRNA	CR933672.1	CAI45968.1
mRNA	DA566139.1	None
mRNA	DA980797.1	None
mRNA	DC299597.1	None
mRNA	DC326380.1	None
mRNA	J05272.1	AAA36114.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P20839.2	GenPept	UniProtKB/Swiss-Prot:P20839

Additional links

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Additional Links

Epigenomics
MIM 146690
Retina International Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene (IMPDH1) impdhmut.htm
UCSC UCSC
UniGene Hs.654401