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    GMPS guanine monophosphate synthase [ Homo sapiens (human) ]

    Gene ID: 8833, updated on 5-Nov-2017
    Official Symbol
    GMPSprovided by HGNC
    Official Full Name
    guanine monophosphate synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:4378
    See related
    Ensembl:ENSG00000163655 MIM:600358; Vega:OTTHUMG00000158551
    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
    GATD7
    Summary
    In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 20.3), thyroid (RPKM 6.3) and 25 other tissues See more
    Orthologs
    Location:
    3q25.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (155869430..155943679)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155588325..155657150)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene chromosome 3 open reading frame 33 Neighboring gene solute carrier family 33 member 1 Neighboring gene uncharacterized LOC105374174 Neighboring gene SET pseudogene 14 Neighboring gene vomeronasal 2 receptor 1 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GMP synthase (glutamine-hydrolyzing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GMP synthase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    GMP synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    pyrophosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    GMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    purine nucleobase biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    purine ribonucleoside monophosphate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    GMP synthase [glutamine-hydrolyzing]
    Names
    GMP synthase
    GMP synthetase
    MLL/GMPS fusion protein
    glutamine amidotransferase
    guanine monophosphate synthetase
    guanosine 5'-monophosphate synthase
    testicular tissue protein Li 82
    NP_003866.1
    XP_011511565.1
    XP_016862911.1

    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_023247.1 RefSeqGene

      Range
      5001..72197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003875.2NP_003866.1  GMP synthase [glutamine-hydrolyzing]

      See identical proteins and their annotated locations for NP_003866.1

      Status: REVIEWED

      Source sequence(s)
      BC012178, BG721087, CB159072
      Consensus CDS
      CCDS46941.1
      UniProtKB/Swiss-Prot
      P49915
      UniProtKB/TrEMBL
      A0A140VJK6
      Related
      ENSP00000419851.1, OTTHUMP00000213048, ENST00000496455.6, OTTHUMT00000351260
      Conserved Domains (3) summary
      cd01742
      Location:28207
      GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase
      PRK00074
      Location:28693
      guaA; GMP synthase; Reviewed
      cd01997
      Location:238692
      GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...

    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_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      155869430..155943679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513263.2XP_011511565.1  GMP synthase [glutamine-hydrolyzing] isoform X1

      Conserved Domains (3) summary
      cd01742
      Location:34213
      GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase
      PRK00074
      Location:34699
      guaA; GMP synthase; Reviewed
      cd01997
      Location:244698
      GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...
    2. XM_017007422.1XP_016862911.1  GMP synthase [glutamine-hydrolyzing] isoform X2

      Conserved Domains (3) summary
      cd01742
      Location:21200
      GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase
      PRK00074
      Location:21686
      guaA; GMP synthase; Reviewed
      cd01997
      Location:231685
      GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      155551614..155618831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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