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

Summary

Official Symbol: IMPDH1provided by HGNC
Official Full Name: inosine monophosphate dehydrogenase 1provided by HGNC
Primary source: HGNC:HGNC:6052
See related: Ensembl:ENSG00000106348 MIM:146690; AllianceGenome:HGNC:6052
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; IMPDH-I; 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]
Expression: Ubiquitous expression in fat (RPKM 19.1), appendix (RPKM 15.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128392277..128409982, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (129704030..129721735, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (128032331..128050036, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Title: IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.
Title: c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.
IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma.
Title: IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma.
MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells.
Title: MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells.
Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.
Title: Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.
Inosine 5'-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic beta Cells.
Title: Inosine 5'-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic β Cells.
IMPDH1 retinal variants control filament architecture to tune allosteric regulation.
Title: IMPDH1 retinal variants control filament architecture to tune allosteric regulation.
Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).
Title: Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).
IMPDH1/YB-1 Positive Feedback Loop Assembles Cytoophidia and Represents a Therapeutic Target in Metastatic Tumors.
Title: IMPDH1/YB-1 Positive Feedback Loop Assembles Cytoophidia and Represents a Therapeutic Target in Metastatic Tumors.
IMP dehydrogenase rod/ring structures in acral melanomas.
Title: IMP dehydrogenase rod/ring structures in acral melanomas.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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

Associated conditions

Description	Tests
Leber congenital amaurosis 11 MedGen: C1840284 OMIM: 613837 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	Compare labs
Retinitis pigmentosa 10 MedGen: C1867299 OMIM: 180105 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in GMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GTP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: inosine-5'-monophosphate dehydrogenase 1

Names: IMP (inosine 5'-monophosphate) dehydrogenase 1; IMP (inosine monophosphate) dehydrogenase 1; IMPD 1; IMPDH 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_001291450.1

EC 1.1.1.205

NP_899066.1

EC 1.1.1.205

XP_016867662.1

EC 1.1.1.205

XP_024302523.1

EC 1.1.1.205

XP_024302524.1

EC 1.1.1.205

XP_024302525.1

EC 1.1.1.205

XP_024302526.1

EC 1.1.1.205

XP_047276289.1

EC 1.1.1.205

XP_047276290.1

EC 1.1.1.205

XP_054214122.1

EC 1.1.1.205

XP_054214123.1

EC 1.1.1.205

XP_054214124.1

EC 1.1.1.205

XP_054214125.1

EC 1.1.1.205

XP_054214126.1

EC 1.1.1.205

XP_054214127.1

EC 1.1.1.205

XP_054214128.1

EC 1.1.1.205

XP_054214129.1

EC 1.1.1.205

XP_054214130.1

EC 1.1.1.205

XP_054214131.1

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

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000883.4 → NP_000874.2 inosine-5'-monophosphate dehydrogenase 1 isoform a

See identical proteins and their annotated locations for NP_000874.2

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

Q5H9Q6

Related

ENSP00000345096.6, ENST00000338791.11

Conserved Domains (3) summary

cd00381
Location:114 → 578

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 ...

cd04602
Location:200 → 315

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 ...

PTZ00314
Location:99 → 595

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_001102605.2 → 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

Q5H9Q6

Related

ENSP00000346219.5, ENST00000354269.9

Conserved Domains (3) summary

cd00381
Location:104 → 568

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 ...

cd04602
Location:190 → 305

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 ...

PTZ00314
Location:89 → 585

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_001142573.2 → NP_001136045.1 inosine-5'-monophosphate dehydrogenase 1 isoform e

See identical proteins and their annotated locations for NP_001136045.1

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)

AC010655, AK122994, CD014008, DC299597

UniProtKB/Swiss-Prot

A4D0Z6, A4D0Z7, A6NDW5, A6NNI6, B3KNP7, B3KVM8, B4DE09, C9JV30, J3KNX8, P20839, Q8N194, Q96NU2

UniProtKB/TrEMBL

C9J381

Related

ENSP00000417296.1, ENST00000470772.5

Conserved Domains (3) summary

cd00381
Location:29 → 493

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 ...

cd04602
Location:115 → 230

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 ...

PTZ00314
Location:14 → 510

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_001142574.2 → NP_001136046.1 inosine-5'-monophosphate dehydrogenase 1 isoform f

See identical proteins and their annotated locations for NP_001136046.1

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)

AC010655, AK122994, AK293413, CD014008, DC299597

Consensus CDS

CCDS55161.1

UniProtKB/TrEMBL

C9J381

Related

ENSP00000420185.1, ENST00000480861.5

Conserved Domains (3) summary

cd00381
Location:29 → 488

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 ...

cd04602
Location:110 → 225

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 ...

PTZ00314
Location:14 → 505

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_001142575.2 → NP_001136047.1 inosine-5'-monophosphate dehydrogenase 1 isoform g

See identical proteins and their annotated locations for NP_001136047.1

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)

AC010655, AK054640, AK122994, CD014008, DC299597

Consensus CDS

CCDS47700.1

UniProtKB/TrEMBL

C9J381

Related

ENSP00000420803.1, ENST00000496200.5

Conserved Domains (3) summary

smart00116
Location:159 → 206

CBS; Domain in cystathionine beta-synthase and other proteins

cd00381
Location:29 → 468

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

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_001142576.2 → 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

Q6ZNB1

Related

ENSP00000399400.2, ENST00000419067.6

Conserved Domains (3) summary

cd00381
Location:86 → 545

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 ...

cd04602
Location:167 → 282

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 ...

PTZ00314
Location:86 → 562

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_001304521.2 → NP_001291450.1 inosine-5'-monophosphate dehydrogenase 1 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks three consecutive in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (h) is shorter compared to isoform a.

Source sequence(s)

AK054667, AK122994, AK131294, BX406207, CD014008

UniProtKB/TrEMBL

Q6ZNB1

Conserved Domains (3) summary

cd00381
Location:50 → 509

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 ...

cd04602
Location:131 → 246

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 ...

PTZ00314
Location:50 → 526

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
NM_183243.3 → NP_899066.1 inosine-5'-monophosphate dehydrogenase 1 isoform b

See identical proteins and their annotated locations for NP_899066.1

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

Q6ZNB1

Related

ENSP00000265385.8, ENST00000348127.11

Conserved Domains (1) summary

PTZ00314
Location:63 → 559

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

128392277..128409982 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446757.2 → XP_024302525.1 inosine-5'-monophosphate dehydrogenase 1 isoform X3

UniProtKB/TrEMBL

Q6ZNB1

Related

ENSP00000496892.1, ENST00000648462.1

Conserved Domains (1) summary

PTZ00314
Location:50 → 526

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
XM_024446756.1 → XP_024302524.1 inosine-5'-monophosphate dehydrogenase 1 isoform X2

UniProtKB/TrEMBL

Q6ZNB1

Conserved Domains (1) summary

PTZ00314
Location:63 → 559

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
XM_024446755.1 → XP_024302523.1 inosine-5'-monophosphate dehydrogenase 1 isoform X1

UniProtKB/TrEMBL

Q5H9Q6

Conserved Domains (1) summary

PTZ00314
Location:89 → 585

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
XM_024446758.1 → XP_024302526.1 inosine-5'-monophosphate dehydrogenase 1 isoform X4

UniProtKB/TrEMBL

B3KRZ3

Conserved Domains (1) summary

PTZ00314
Location:22 → 518

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
XM_047420334.1 → XP_047276290.1 inosine-5'-monophosphate dehydrogenase 1 isoform X6
XM_047420333.1 → XP_047276289.1 inosine-5'-monophosphate dehydrogenase 1 isoform X5
XM_017012173.1 → XP_016867662.1 inosine-5'-monophosphate dehydrogenase 1 isoform X7

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

129704030..129721735 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358152.1 → XP_054214127.1 inosine-5'-monophosphate dehydrogenase 1 isoform X3
XM_054358151.1 → XP_054214126.1 inosine-5'-monophosphate dehydrogenase 1 isoform X2
XM_054358148.1 → XP_054214123.1 inosine-5'-monophosphate dehydrogenase 1 isoform X9
XM_054358150.1 → XP_054214125.1 inosine-5'-monophosphate dehydrogenase 1 isoform X1
XM_054358149.1 → XP_054214124.1 inosine-5'-monophosphate dehydrogenase 1 isoform X10
XM_054358147.1 → XP_054214122.1 inosine-5'-monophosphate dehydrogenase 1 isoform X8
XM_054358153.1 → XP_054214128.1 inosine-5'-monophosphate dehydrogenase 1 isoform X4
XM_054358156.1 → XP_054214131.1 inosine-5'-monophosphate dehydrogenase 1 isoform X6
XM_054358155.1 → XP_054214130.1 inosine-5'-monophosphate dehydrogenase 1 isoform X5
XM_054358154.1 → XP_054214129.1 inosine-5'-monophosphate dehydrogenase 1 isoform X11