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

Gene ID: 3614, updated on 4-Nov-2018

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; 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; 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

Genomic context

See IMPDH1 in Genome Data Viewer
Location:
7q32.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (128392277..128409989, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128032331..128050045, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 27 pseudogene Neighboring gene proline rich transmembrane protein 4 Neighboring gene uncharacterized LOC107986845 Neighboring gene ribosomal protein L37 pseudogene 16 Neighboring gene RNA, U7 small nuclear 54 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 EXP
Inferred from Experiment
more info
PubMed 
IMP dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
GTP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lymphocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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_016867661.1
XP_016867662.1
XP_024302523.1
XP_024302524.1
XP_024302525.1
XP_024302526.1

NCBI Reference Sequences (RefSeq)

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_000883.3NP_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/Swiss-Prot
    P20839
    UniProtKB/TrEMBL
    B3KRZ3
    Related
    ENSP00000345096.6, OTTHUMP00000212382, ENST00000338791.10, OTTHUMT00000349458
    Conserved Domains (3) summary
    cd00381
    Location:114578
    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:200315
    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:99595
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  2. NM_001102605.1NP_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/Swiss-Prot
    P20839
    Related
    ENSP00000346219.5, OTTHUMP00000212379, ENST00000354269.9, OTTHUMT00000349454
    Conserved Domains (3) summary
    cd00381
    Location:104568
    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:190305
    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:89585
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  3. NM_001142573.1NP_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)
    AK122994, CD014008, DC299597
    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000417296.1, OTTHUMP00000212390, ENST00000470772.5, OTTHUMT00000349469
    Conserved Domains (3) summary
    cd00381
    Location:29493
    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:115230
    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:14510
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  4. NM_001142574.1NP_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)
    AK122994, AK293413, CD014008, DC299597
    Consensus CDS
    CCDS55161.1
    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000420185.1, OTTHUMP00000212386, ENST00000480861.5, OTTHUMT00000349462
    Conserved Domains (3) summary
    cd00381
    Location:29488
    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:110225
    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:14505
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  5. NM_001142575.1NP_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)
    AK054640, AK122994, CD014008, DC299597
    Consensus CDS
    CCDS47700.1
    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000420803.1, OTTHUMP00000212385, ENST00000496200.5, OTTHUMT00000349461
    Conserved Domains (3) summary
    smart00116
    Location:159206
    CBS; Domain in cystathionine beta-synthase and other proteins
    cd00381
    Location:29468
    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:14485
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  6. NM_001142576.1NP_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/Swiss-Prot
    P20839
    Related
    ENSP00000399400.2, OTTHUMP00000212381, ENST00000419067.6, OTTHUMT00000349456
    Conserved Domains (3) summary
    cd00381
    Location:86545
    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:167282
    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:86562
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  7. NM_001304521.1NP_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/Swiss-Prot
    P20839
    UniProtKB/TrEMBL
    Q6ZNB1
    Conserved Domains (3) summary
    cd00381
    Location:50509
    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:131246
    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:50526
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  8. NM_183243.2NP_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/Swiss-Prot
    P20839
    Related
    ENSP00000265385.8, OTTHUMP00000212380, ENST00000348127.10, OTTHUMT00000349455
    Conserved Domains (1) summary
    PTZ00314
    Location:63559
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    128392277..128409989 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000496892.1, ENST00000648462.1
    Conserved Domains (1) summary
    PTZ00314
    Location:50526
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  2. XM_024446756.1XP_024302524.1  inosine-5'-monophosphate dehydrogenase 1 isoform X2

    Conserved Domains (1) summary
    PTZ00314
    Location:63559
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  3. XM_024446755.1XP_024302523.1  inosine-5'-monophosphate dehydrogenase 1 isoform X1

    Conserved Domains (1) summary
    PTZ00314
    Location:89585
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  4. XM_017012172.1XP_016867661.1  inosine-5'-monophosphate dehydrogenase 1 isoform X5

    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000486056.1, ENST00000626419.2
    Conserved Domains (3) summary
    cd00381
    Location:37501
    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:123238
    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:22518
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  5. XM_024446758.1XP_024302526.1  inosine-5'-monophosphate dehydrogenase 1 isoform X4

    Conserved Domains (1) summary
    PTZ00314
    Location:22518
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  6. XM_017012173.1XP_016867662.1  inosine-5'-monophosphate dehydrogenase 1 isoform X6

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