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

    Gene ID: 3614, updated on 5-Nov-2017
    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
    Location:
    7q32.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC107986845 Neighboring gene ribosomal protein L37 pseudogene 16 Neighboring gene RNA, U7 small nuclear 54 pseudogene

    • 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

    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 EXP
    Inferred from Experiment
    more info
    PubMed 
    IMP dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    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 
    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
     
    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 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
     
    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_016867657.1
    XP_016867658.1
    XP_016867659.1
    XP_016867660.1
    XP_016867661.1
    XP_016867662.1

    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
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. 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
    2. XM_017012170.1XP_016867659.1  inosine-5'-monophosphate dehydrogenase 1 isoform X3

    3. XM_017012169.1XP_016867658.1  inosine-5'-monophosphate dehydrogenase 1 isoform X2

    4. XM_017012168.1XP_016867657.1  inosine-5'-monophosphate dehydrogenase 1 isoform X1

    5. XM_017012171.1XP_016867660.1  inosine-5'-monophosphate dehydrogenase 1 isoform X4

    6. XM_017012173.1XP_016867662.1  inosine-5'-monophosphate dehydrogenase 1 isoform X6

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

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