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    GUK1 guanylate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 2987, updated on 5-Aug-2018

    Summary

    Official Symbol
    GUK1provided by HGNC
    Official Full Name
    guanylate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:4693
    See related
    Ensembl:ENSG00000143774 MIM:139270; Vega:OTTHUMG00000039503
    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
    GMK
    Summary
    The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in bone marrow (RPKM 25.0), adrenal (RPKM 18.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See GUK1 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (228140084..228148955)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228327668..228336656)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 96 member A pseudogene 2 Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene gap junction protein gamma 2 Neighboring gene IBA57 divergent transcript

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ42686, FLJ43710

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    guanylate kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    guanylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    guanylate kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    GDP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    GDP-mannose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    dATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    dGDP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    dGMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glycoprotein transport IEA
    Inferred from Electronic Annotation
    more info
     
    nucleobase-containing small molecule interconversion TAS
    Traceable Author Statement
    more info
     
    nucleotide phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    purine nucleotide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    guanylate kinase
    Names
    ATP:GMP phosphotransferase
    GMP kinase
    NP_000849.1
    NP_001152862.1
    NP_001152863.1
    NP_001229768.1
    NP_001229769.1
    XP_005273161.1

    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.

    mRNA and Protein(s)

    1. NM_000858.5NP_000849.1  guanylate kinase isoform b

      See identical proteins and their annotated locations for NP_000849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (b) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform c. Variants 2, 3, and 4 all encode the same isoform.
      Source sequence(s)
      AW083682, BC006249, BM790067
      Consensus CDS
      CCDS1568.1
      UniProtKB/Swiss-Prot
      Q16774
      UniProtKB/TrEMBL
      Q6IBG8
      Related
      ENSP00000317659.4, OTTHUMP00000037504, ENST00000312726.8, OTTHUMT00000095312
      Conserved Domains (1) summary
      TIGR03263
      Location:5187
      guanyl_kin; guanylate kinase
    2. NM_001159390.1NP_001152862.1  guanylate kinase isoform a

      See identical proteins and their annotated locations for NP_001152862.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (a) has a shorter and distinct C-terminus compared to isoform c.
      Source sequence(s)
      AW083682, BC091480, BM790067
      Consensus CDS
      CCDS53481.1
      UniProtKB/Swiss-Prot
      Q16774
      UniProtKB/TrEMBL
      Q6IBG8
      Related
      ENSP00000375738.3, ENST00000391865.7
      Conserved Domains (2) summary
      TIGR03263
      Location:26208
      guanyl_kin; guanylate kinase
      pfam00625
      Location:24209
      Guanylate_kin; Guanylate kinase
    3. NM_001159391.1NP_001152863.1  guanylate kinase isoform b

      See identical proteins and their annotated locations for NP_001152863.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (b) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform c. Variants 2, 3, and 4 all encode the same isoform.
      Source sequence(s)
      AW083682, BC091480, BE780558, BQ638787
      Consensus CDS
      CCDS1568.1
      UniProtKB/Swiss-Prot
      Q16774
      UniProtKB/TrEMBL
      Q6IBG8
      Related
      ENSP00000355679.1, OTTHUMP00000037741, ENST00000366718.5, OTTHUMT00000095944
      Conserved Domains (1) summary
      TIGR03263
      Location:5187
      guanyl_kin; guanylate kinase
    4. NM_001242839.1NP_001229768.1  guanylate kinase isoform b

      See identical proteins and their annotated locations for NP_001229768.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (b) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform c. Variants 2, 3, and 4 all encode the same isoform.
      Source sequence(s)
      AL359510, BI771824
      Consensus CDS
      CCDS1568.1
      UniProtKB/Swiss-Prot
      Q16774
      UniProtKB/TrEMBL
      Q6IBG8
      Related
      ENSP00000355691.1, OTTHUMP00000037748, ENST00000366730.5, OTTHUMT00000095315
      Conserved Domains (1) summary
      TIGR03263
      Location:5187
      guanyl_kin; guanylate kinase
    5. NM_001242840.1NP_001229769.1  guanylate kinase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (c).
      Source sequence(s)
      AL359510, BU194785
      Consensus CDS
      CCDS55689.1
      UniProtKB/Swiss-Prot
      Q16774
      Related
      ENSP00000355689.2, OTTHUMP00000037751, ENST00000366728.6, OTTHUMT00000095321
      Conserved Domains (2) summary
      TIGR03263
      Location:26182
      guanyl_kin; guanylate kinase
      pfam00625
      Location:24179
      Guanylate_kin; Guanylate kinase

    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_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      228140084..228148955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273104.5XP_005273161.1  guanylate kinase isoform X1

      See identical proteins and their annotated locations for XP_005273161.1

      UniProtKB/TrEMBL
      A0A024R3U5
      Related
      ENSP00000407604.1, OTTHUMP00000037738, ENST00000412265.5
      Conserved Domains (2) summary
      TIGR03263
      Location:71253
      guanyl_kin; guanylate kinase
      pfam00625
      Location:69254
      Guanylate_kin; Guanylate kinase
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