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    GUK1 guanylate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 2987, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GUK1provided by HGNC
    Official Full Name
    guanylate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:4693
    See related
    Ensembl:ENSG00000143774 MIM:139270; AllianceGenome:HGNC:4693
    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
    mouse all
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    Genomic context

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    See GUK1 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228140084..228148955)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227329084..227337952)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228327785..228336656)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CIAO2A pseudogene 2 Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228331588-228332114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228332115-228332639 Neighboring gene gap junction protein gamma 2 Neighboring gene uncharacterized LOC124904534 Neighboring gene IBA57 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Guanylate kinases from human erythrocytes, hog brain, and rat liver. Agarwal KC, et al. Methods Enzymol, 1978. PMID 211390
    2. [Increase in 5'-nucleotidase and decrease in guanylate kinase activity in the brain and liver of irradiated rats]. Savitskiĭ IV. Ukr Biokhim Zh (1978), 1990 Mar-Apr. PMID 2164269
    3. Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect. Dallapiccola B, et al. Ann Genet, 1980. PMID 6249178
    4. Guanosine-5'-phosphate synthetase and guanosine-5'-phosphate kinase in rat hepatomas and kidney tumors. Boritzki TJ, et al. Biochim Biophys Acta, 1981 Mar 13. PMID 6260205
    5. Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation. Fitzgibbon J, et al. FEBS Lett, 1996 May 6. PMID 8647247

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GUK1 expression in healthy palatal mucosa is strongly negatively correlated with serum cotinine levels
      Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
    2. HGS and GUK1 were significantly over expressed in GH-secreting adenomas, compared with ACTH-secreting adenomas and nonfunctioning tumors, and with PRL-secreting adenomas, respectively.
      Title: Hepatocyte growth factor-regulated tyrosine kinase substrate (HGS) and guanylate kinase 1 (GUK1) are differentially expressed in GH-secreting adenomas.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42686, FLJ43710

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables guanylate kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables guanylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanylate kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables guanylate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GDP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GDP-mannose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dGDP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dGMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycoprotein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleobase-containing small molecule interconversion TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in purine nucleotide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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
    XP_047274642.1
    XP_047274643.1
    XP_047274644.1
    XP_047274646.1
    XP_047274647.1
    XP_047274649.1
    XP_047274650.1
    XP_047274652.1
    XP_054192150.1
    XP_054192151.1
    XP_054192152.1
    XP_054192153.1
    XP_054192154.1
    XP_054192155.1
    XP_054192156.1
    XP_054192157.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_000858.7 → NP_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
      B1ANH1, Q16774
      UniProtKB/TrEMBL
      A0A024R3S8, Q6IBG8, Q96IN2
      Conserved Domains (1) summary
      TIGR03263
      Location:5 → 187
      guanyl_kin; guanylate kinase

    2. NM_001159390.2 → NP_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/TrEMBL
      B1ANH0
      Related
      ENSP00000401832.2, ENST00000453943.6
      Conserved Domains (2) summary
      TIGR03263
      Location:26 → 208
      guanyl_kin; guanylate kinase
      pfam00625
      Location:24 → 209
      Guanylate_kin; Guanylate kinase

    3. NM_001159391.3 → NP_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)
      AL359510, AW083682, BC091480, BE780558, BQ638787
      Consensus CDS
      CCDS1568.1
      UniProtKB/Swiss-Prot
      B1ANH1, Q16774
      UniProtKB/TrEMBL
      A0A024R3S8, Q6IBG8, Q96IN2
      Related
      ENST00000366716.1
      Conserved Domains (1) summary
      TIGR03263
      Location:5 → 187
      guanyl_kin; guanylate kinase

    4. NM_001242839.1 → NP_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
      B1ANH1, Q16774
      UniProtKB/TrEMBL
      A0A024R3S8, Q6IBG8, Q96IN2
      Related
      ENSP00000355691.1, ENST00000366730.5
      Conserved Domains (1) summary
      TIGR03263
      Location:5 → 187
      guanyl_kin; guanylate kinase

    5. NM_001242840.3 → NP_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, ENST00000366728.6
      Conserved Domains (2) summary
      TIGR03263
      Location:26 → 182
      guanyl_kin; guanylate kinase
      pfam00625
      Location:24 → 179
      Guanylate_kin; Guanylate kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047418686.1 → XP_047274642.1  guanylate kinase isoform X1

    2. XM_047418688.1 → XP_047274644.1  guanylate kinase isoform X2

    3. XM_047418696.1 → XP_047274652.1  guanylate kinase isoform X5

    4. XM_047418690.1 → XP_047274646.1  guanylate kinase isoform X3

    5. XM_005273104.6 → XP_005273161.1  guanylate kinase isoform X2

      See identical proteins and their annotated locations for XP_005273161.1

      Conserved Domains (2) summary
      TIGR03263
      Location:71 → 253
      guanyl_kin; guanylate kinase
      pfam00625
      Location:69 → 254
      Guanylate_kin; Guanylate kinase

    6. XM_047418687.1 → XP_047274643.1  guanylate kinase isoform X1

    7. XM_047418691.1 → XP_047274647.1  guanylate kinase isoform X3

    8. XM_047418693.1 → XP_047274649.1  guanylate kinase isoform X4

    9. XM_047418694.1 → XP_047274650.1  guanylate kinase isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      227329084..227337952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336182.1 → XP_054192157.1  guanylate kinase isoform X5

    2. XM_054336178.1 → XP_054192153.1  guanylate kinase isoform X3

    3. XM_054336176.1 → XP_054192151.1  guanylate kinase isoform X2

    4. XM_054336175.1 → XP_054192150.1  guanylate kinase isoform X1

    5. XM_054336179.1 → XP_054192154.1  guanylate kinase isoform X3

    6. XM_054336180.1 → XP_054192155.1  guanylate kinase isoform X4

    7. XM_054336177.1 → XP_054192152.1  guanylate kinase isoform X2

    8. XM_054336181.1 → XP_054192156.1  guanylate kinase isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16774.2 GenPept UniProtKB/Swiss-Prot:Q16774

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