Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 3614, updated on 4-May-2015
Official Symbol
IMPDH1provided by HGNC
Official Full Name
IMP (inosine 5'-monophosphate) dehydrogenase 1provided by HGNC
Primary source
HGNC: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; 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]
Orthologs
See IMPDH1 in MapViewer
Location:
7q31.3-q32
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (128392277..128409987, 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 LOC105375495 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
 
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
 
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
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
inosine-5'-monophosphate dehydrogenase 1
Names
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

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
    4996..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/TrEMBL
    B3KRZ3
    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000345096, OTTHUMP00000212382, ENST00000338791, 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 ...
    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 ...
    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, OTTHUMP00000212379, ENST00000354269, 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 ...
    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 ...
    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
    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 ...
    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 ...
    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
    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 ...
    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 ...
    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, OTTHUMP00000212385, ENST00000496200, 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 ...
    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, OTTHUMP00000212381, ENST00000419067, 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 ...
    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 ...
    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
    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 ...
    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 ...
    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, OTTHUMP00000212380, ENST00000348127, OTTHUMT00000349455
    Conserved Domains (3) summary
    cd00381
    Location:78542
    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
    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
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    128392277..128409987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715969.1XP_006716032.1  

    Conserved Domains (3) summary
    cd00381
    Location:78542
    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
    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
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  2. XM_006715968.1XP_006716031.1  

    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 ...
    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 ...
    PTZ00314
    Location:89585
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  3. XM_006715967.1XP_006716030.1  

    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 ...
    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 ...
    PTZ00314
    Location:99595
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  4. XM_006715970.2XP_006716033.1  

    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 ...
    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 ...
    PTZ00314
    Location:50526
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  5. XM_005250314.1XP_005250371.1  

    See identical proteins and their annotated locations for XP_005250371.1

    UniProtKB/Swiss-Prot
    P20839
    Related
    ENSP00000486056, ENST00000626419
    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 ...
    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 ...
    PTZ00314
    Location:22518
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  6. XM_006715971.1XP_006716034.1  

    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 ...
    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 ...
    PTZ00314
    Location:22518
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
  7. XM_011516157.1XP_011514459.1  

    Conserved Domains (3) summary
    COG0516
    Location:162386
    GuaB; IMP dehydrogenase/GMP reductase [Nucleotide transport and metabolism]
    cd00381
    Location:120372
    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 ...
    cl15354
    Location:56109
    CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  8. XM_011516156.1XP_011514458.1  

    Conserved Domains (3) summary
    COG0516
    Location:162386
    GuaB; IMP dehydrogenase/GMP reductase [Nucleotide transport and metabolism]
    cd00381
    Location:120372
    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 ...
    cl15354
    Location:56109
    CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    127965901..127983587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)