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

Gene ID: 3614, updated on 24-Aug-2014
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]
See IMPDH1 in Epigenomics, MapViewer
Location:
7q31.3-q32
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (128392277..128409988, 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 ribosomal protein L37 pseudogene 16 Neighboring gene RNA, U7 small nuclear 54 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
 
RNA binding IEA
Inferred from Electronic Annotation
more info
 
adenyl nucleotide 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 
Process Evidence Code Pubs
GMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
lymphocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
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 
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
NP_001096075.1
NP_001136045.1
NP_001136046.1
NP_001136047.1
NP_001136048.1
NP_899066.1

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 

    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 proteins identical to 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
    B3KRZ3
    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000345096, OTTHUMP00000212382, ENST00000338791, OTTHUMT00000349458
    Conserved Domains (3) summary
    cd00381
    Location:114578
    Blast Score: 1212
    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 ...
    cd04602
    Location:200315
    Blast Score: 506
    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 ...
    PTZ00314
    Location:99595
    Blast Score: 2061
    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, OTTHUMP00000212379, ENST00000354269, OTTHUMT00000349454
    Conserved Domains (3) summary
    cd00381
    Location:104568
    Blast Score: 1208
    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 ...
    cd04602
    Location:190305
    Blast Score: 509
    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 ...
    PTZ00314
    Location:89585
    Blast Score: 2057
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  3. NM_001142573.1NP_001136045.1  inosine-5'-monophosphate dehydrogenase 1 isoform e

    See proteins identical to 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
    Conserved Domains (3) summary
    cd00381
    Location:29493
    Blast Score: 1205
    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 ...
    cd04602
    Location:115230
    Blast Score: 501
    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 ...
    PTZ00314
    Location:14510
    Blast Score: 2043
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  4. NM_001142574.1NP_001136046.1  inosine-5'-monophosphate dehydrogenase 1 isoform f

    See proteins identical to 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
    Conserved Domains (3) summary
    cd00381
    Location:29488
    Blast Score: 1183
    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 ...
    cd04602
    Location:110225
    Blast Score: 502
    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 ...
    PTZ00314
    Location:14505
    Blast Score: 1999
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  5. NM_001142575.1NP_001136047.1  inosine-5'-monophosphate dehydrogenase 1 isoform g

    See proteins identical to 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, OTTHUMP00000212385, ENST00000496200, OTTHUMT00000349461
    Conserved Domains (3) summary
    smart00116
    Location:159206
    Blast Score: 116
    CBS; Domain in cystathionine beta-synthase and other proteins
    cd00381
    Location:29468
    Blast Score: 1116
    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 ...
    PTZ00314
    Location:14485
    Blast Score: 1896
    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, OTTHUMP00000212381, ENST00000419067, OTTHUMT00000349456
    Conserved Domains (3) summary
    cd00381
    Location:86545
    Blast Score: 1187
    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 ...
    cd04602
    Location:167282
    Blast Score: 504
    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 ...
    PTZ00314
    Location:86562
    Blast Score: 2010
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  7. NM_183243.2NP_899066.1  inosine-5'-monophosphate dehydrogenase 1 isoform b

    See proteins identical to 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, OTTHUMP00000212380, ENST00000348127, OTTHUMT00000349455
    Conserved Domains (3) summary
    cd00381
    Location:78542
    Blast Score: 1209
    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 ...
    cd04602
    Location:164279
    Blast Score: 508
    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 ...
    PTZ00314
    Location:63559
    Blast Score: 2058
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    128392277..128409988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715970.1XP_006716033.1  

    Conserved Domains (3) summary
    cd00381
    Location:50509
    Blast Score: 1193
    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 ...
    cd04602
    Location:131246
    Blast Score: 507
    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 ...
    PTZ00314
    Location:50526
    Blast Score: 2011
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  2. XM_005250313.2XP_005250370.1  

    UniProtKB/TrEMBL
    E7EQS0
    Conserved Domains (3) summary
    cd00381
    Location:50509
    Blast Score: 1184
    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 ...
    cd04602
    Location:131246
    Blast Score: 506
    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 ...
    PTZ00314
    Location:50526
    Blast Score: 2006
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  3. XM_006715969.1XP_006716032.1  

    Conserved Domains (3) summary
    cd00381
    Location:78542
    Blast Score: 1218
    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 ...
    cd04602
    Location:164279
    Blast Score: 508
    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 ...
    PTZ00314
    Location:63559
    Blast Score: 2061
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  4. XM_006715968.1XP_006716031.1  

    Conserved Domains (3) summary
    cd00381
    Location:104568
    Blast Score: 1216
    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 ...
    cd04602
    Location:190305
    Blast Score: 509
    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 ...
    PTZ00314
    Location:89585
    Blast Score: 2060
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  5. XM_006715967.1XP_006716030.1  

    Conserved Domains (3) summary
    cd00381
    Location:114578
    Blast Score: 1219
    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 ...
    cd04602
    Location:200315
    Blast Score: 506
    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 ...
    PTZ00314
    Location:99595
    Blast Score: 2065
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  6. XM_005250314.1XP_005250371.1  

    See proteins identical to XP_005250371.1

    UniProtKB/Swiss-Prot
    P20839
    Conserved Domains (3) summary
    cd00381
    Location:37501
    Blast Score: 1205
    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 ...
    cd04602
    Location:123238
    Blast Score: 501
    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 ...
    PTZ00314
    Location:22518
    Blast Score: 2043
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  7. XM_006715971.1XP_006716034.1  

    Conserved Domains (3) summary
    cd00381
    Location:37501
    Blast Score: 1215
    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 ...
    cd04602
    Location:123238
    Blast Score: 502
    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 ...
    PTZ00314
    Location:22518
    Blast Score: 2048
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  8. XM_006715973.1XP_006716036.1  

    Conserved Domains (3) summary
    COG0516
    Location:162386
    Blast Score: 285
    GuaB; IMP dehydrogenase/GMP reductase [Nucleotide transport and metabolism]
    cd00381
    Location:120372
    Blast Score: 1004
    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 ...
    cd04602
    Location:56109
    Blast Score: 245
    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 ...
  9. XM_006715972.1XP_006716035.1  

    Conserved Domains (3) summary
    COG0516
    Location:162386
    Blast Score: 291
    GuaB; IMP dehydrogenase/GMP reductase [Nucleotide transport and metabolism]
    cd00381
    Location:120372
    Blast Score: 1011
    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 ...
    cd04602
    Location:56109
    Blast Score: 245
    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 ...

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    122393708..122411003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    127965901..127983582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)