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

Gene ID: 3614, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See IMPDH1 in Genome Data Viewer
Location:
7q32.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128392277..128409982, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129704030..129721735, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128032331..128050036, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26597 Neighboring gene RNA, U7 small nuclear 27 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999072-127999941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999942-128000810 Neighboring gene proline rich transmembrane protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128000811-128001679 Neighboring gene uncharacterized LOC107986845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128031425-128031926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128043787-128044403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128044404-128045019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128045637-128046251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18607 Neighboring gene ribosomal protein L37 pseudogene 16 Neighboring gene RNA, U7 small nuclear 54 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. The Impact of Terminal Peptide Extensions of Retinal Inosine 5 Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities.
    Title: The Impact of Terminal Peptide Extensions of Retinal Inosine 5´Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities.
  2. Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.
    Title: Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.
    Title: Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.
  8. 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.
  9. IMPDH1 retinal variants control filament architecture to tune allosteric regulation.
    Title: IMPDH1 retinal variants control filament architecture to tune allosteric regulation.
  10. 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).
Submit: New GeneRIF Correction See all GeneRIFs (43)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp781N0678

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 identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
NP_001096075.1
NP_001136045.1
NP_001136046.1
NP_001136047.1
NP_001136048.1
NP_001291450.1
NP_899066.1
XP_016867662.1
XP_024302523.1
XP_024302524.1
XP_024302525.1
XP_024302526.1
XP_047276289.1
XP_047276290.1
XP_054214122.1
XP_054214123.1
XP_054214124.1
XP_054214125.1
XP_054214126.1
XP_054214127.1
XP_054214128.1
XP_054214129.1
XP_054214130.1
XP_054214131.1

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

  1. NG_009194.1 RefSeqGene

    Range
    5001..22706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    128392277..128409982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. XM_047420334.1 → XP_047276290.1  inosine-5'-monophosphate dehydrogenase 1 isoform X6

  6. XM_047420333.1 → XP_047276289.1  inosine-5'-monophosphate dehydrogenase 1 isoform X5

  7. XM_017012173.1 → XP_016867662.1  inosine-5'-monophosphate dehydrogenase 1 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    129704030..129721735 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358152.1 → XP_054214127.1  inosine-5'-monophosphate dehydrogenase 1 isoform X3

  2. XM_054358151.1 → XP_054214126.1  inosine-5'-monophosphate dehydrogenase 1 isoform X2

  3. XM_054358148.1 → XP_054214123.1  inosine-5'-monophosphate dehydrogenase 1 isoform X9

  4. XM_054358150.1 → XP_054214125.1  inosine-5'-monophosphate dehydrogenase 1 isoform X1

  5. XM_054358149.1 → XP_054214124.1  inosine-5'-monophosphate dehydrogenase 1 isoform X10

  6. XM_054358147.1 → XP_054214122.1  inosine-5'-monophosphate dehydrogenase 1 isoform X8

  7. XM_054358153.1 → XP_054214128.1  inosine-5'-monophosphate dehydrogenase 1 isoform X4

  8. XM_054358156.1 → XP_054214131.1  inosine-5'-monophosphate dehydrogenase 1 isoform X6

  9. XM_054358155.1 → XP_054214130.1  inosine-5'-monophosphate dehydrogenase 1 isoform X5

  10. XM_054358154.1 → XP_054214129.1  inosine-5'-monophosphate dehydrogenase 1 isoform X11

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20839.2 GenPept UniProtKB/Swiss-Prot:P20839

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